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Eight Subcellular Pathologies driving Chronic Metabolic Diseases – Methods for Mapping Bioelectronic Adjustable Measurements as potential new Therapeutics: Impact on Pharmaceuticals in Use

Posted in Acute Myocardial Infarction, Adaptive Immune Response to Biomaterials and Tissue Repair, Advanced Drug Manufacturing Technology, Amino acids, Apoptosis, Apoptosis, Artificial intelligence applications for cardiology, Artificial Intelligence in Medicine - Application for Diagnosis, Artificial Intelligence in Medicine - Applications in Therapeutics, Atherogenic Processes & Pathology, Autoimmune Inflammatory DIseases, Autologous Cell Therapy, Automated Cell Processing, Autophagosome, Autophagy, Autophagy-Modulating Proteins, “Antibody–enzyme conjugates”, Bio Instrumentation in Experimental Life Sciences Research, Biochemical pathways, Bioengineering & reverse engineering design, Biological Engineering, Biomarkers & Medical Diagnostics, Biomedical Measurement Science, Ca2+ triggered activation, Calcium Signaling, Calmodulin, Calmodulin Kinase and Contraction, Cancer - General, Cardiac muscle regeneration, Cardiovascular Pharmacogenomics, Cell Biology, Signaling & Cell Circuits, 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Eight Subcellular Pathologies driving Chronic Metabolic Diseases – Methods for Mapping Bioelectronic Adjustable Measurements as potential new Therapeutics: Impact on Pharmaceuticals in Use

Curators:

 

THE VOICE of Aviva Lev-Ari, PhD, RN

In this curation we wish to present two breaking through goals:

Goal 1:

Exposition of a new direction of research leading to a more comprehensive understanding of Metabolic Dysfunctional Diseases that are implicated in effecting the emergence of the two leading causes of human mortality in the World in 2023: (a) Cardiovascular Diseases, and (b) Cancer

Goal 2:

Development of Methods for Mapping Bioelectronic Adjustable Measurements as potential new Therapeutics for these eight subcellular causes of chronic metabolic diseases. It is anticipated that it will have a potential impact on the future of Pharmaceuticals to be used, a change from the present time current treatment protocols for Metabolic Dysfunctional Diseases.

According to Dr. Robert Lustig, M.D, an American pediatric endocrinologist. He is Professor emeritus of Pediatrics in the Division of Endocrinology at the University of California, San Francisco, where he specialized in neuroendocrinology and childhood obesity, there are eight subcellular pathologies that drive chronic metabolic diseases.

These eight subcellular pathologies can’t be measured at present time.

In this curation we will attempt to explore methods of measurement for each of these eight pathologies by harnessing the promise of the emerging field known as Bioelectronics.

Unmeasurable eight subcellular pathologies that drive chronic metabolic diseases

  1. Glycation
  2. Oxidative Stress
  3. Mitochondrial dysfunction [beta-oxidation Ac CoA malonyl fatty acid]
  4. Insulin resistance/sensitive [more important than BMI], known as a driver to cancer development
  5. Membrane instability
  6. Inflammation in the gut [mucin layer and tight junctions]
  7. Epigenetics/Methylation
  8. Autophagy [AMPKbeta1 improvement in health span]

Diseases that are not Diseases: no drugs for them, only diet modification will help

Image source

Robert Lustig, M.D. on the Subcellular Processes That Belie Chronic Disease

https://www.youtube.com/watch?v=Ee_uoxuQo0I

 

Exercise will not undo Unhealthy Diet

Image source

Robert Lustig, M.D. on the Subcellular Processes That Belie Chronic Disease

https://www.youtube.com/watch?v=Ee_uoxuQo0I

 

These eight Subcellular Pathologies driving Chronic Metabolic Diseases are becoming our focus for exploration of the promise of Bioelectronics for two pursuits:

  1. Will Bioelectronics be deemed helpful in measurement of each of the eight pathological processes that underlie and that drive the chronic metabolic syndrome(s) and disease(s)?
  2. IF we will be able to suggest new measurements to currently unmeasurable health harming processes THEN we will attempt to conceptualize new therapeutic targets and new modalities for therapeutics delivery – WE ARE HOPEFUL

In the Bioelecronics domain we are inspired by the work of the following three research sources:

  1. Biological and Biomedical Electrical Engineering (B2E2) at Cornell University, School of Engineering https://www.engineering.cornell.edu/bio-electrical-engineering-0
  2. Bioelectronics Group at MIT https://bioelectronics.mit.edu/
  3. The work of Michael Levin @Tufts, The Levin Lab
Michael Levin is an American developmental and synthetic biologist at Tufts University, where he is the Vannevar Bush Distinguished Professor. Levin is a director of the Allen Discovery Center at Tufts University and Tufts Center for Regenerative and Developmental Biology. Wikipedia
Born: 1969 (age 54 years), Moscow, Russia
Education: Harvard University (1992–1996), Tufts University (1988–1992)
Affiliation: University of Cape Town
Research interests: Allergy, Immunology, Cross Cultural Communication
Awards: Cozzarelli prize (2020)
Doctoral advisor: Clifford Tabin
Fields: Developmental biology, synthetic biology
SOURCE
Most recent 20 Publications by Michael Levin, PhD
SOURCE
SCHOLARLY ARTICLE
The nonlinearity of regulation in biological networks
1 Dec 2023npj Systems Biology and Applications9(1)
Co-authorsManicka S, Johnson K, Levin M…
VIEW PDF10.1038/S41540-023-00273-W
3

3 total citations on Dimensions.

Article has an altmetric score of 20
SCHOLARLY ARTICLE
Toward an ethics of autopoietic technology: Stress, care, and intelligence
1 Sep 2023BioSystems231
Co-authorsWitkowski O, Doctor T, Solomonova E…
VIEW PDF10.1016/J.BIOSYSTEMS.2023.104964
Article has an altmetric score of 36
SCHOLARLY ARTICLE
Closing the Loop on Morphogenesis: A Mathematical Model of Morphogenesis by Closed-Loop Reaction-Diffusion
14 Aug 2023Frontiers in Cell and Developmental Biology11:1087650
Co-authorsGrodstein J, McMillen P, Levin M
VIEW PDF10.3389/FCELL.2023.1087650
Article has an altmetric score of 22
SCHOLARLY ARTICLE
Correcting instructive electric potential patterns in multicellular systems: External actions and endogenous processes.
30 Jul 2023Biochim Biophys Acta Gen Subj1867(10):130440
Co-authorsCervera J, Levin M, Mafe S
VIEW MORE INFO10.1016/J.BBAGEN.2023.130440
Article has an altmetric score of 20
SCHOLARLY ARTICLE
Regulative development as a model for origin of life and artificial life studies
1 Jul 2023BioSystems229
Co-authorsFields C, Levin M
10.1016/J.BIOSYSTEMS.2023.104927
1

1 citation on Dimensions.

Article has an altmetric score of 19
SCHOLARLY ARTICLE
The Yin and Yang of Breast Cancer: Ion Channels as Determinants of Left–Right Functional Differences
1 Jul 2023International Journal of Molecular Sciences24(13)
Co-authorsMasuelli S, Real S, McMillen P…
VIEW PDF10.3390/IJMS241311121
Article has an altmetric score of 7
SCHOLARLY ARTICLE
Bioelectricidad en agregados multicelulares de células no excitables- modelos biofísicos
Jun 2023Revista Española de Física32(2)
Co-authorsCervera J, Levin M, Mafé S
SCHOLARLY ARTICLE
Bioelectricity: A Multifaceted Discipline, and a Multifaceted Issue!
1 Jun 2023Bioelectricity5(2):75
Co-authorsDjamgoz MBA, Levin M
10.1089/BIOE.2023.0022.EDITORIAL
SCHOLARLY ARTICLE
Control Flow in Active Inference Systems – Part I: Classical and Quantum Formulations of Active Inference
1 Jun 2023IEEE Transactions on Molecular, Biological, and Multi-Scale Communications9(2):235-245
Co-authorsFields C, Fabrocini F, Friston K…
10.1109/TMBMC.2023.3272150
2

2 total citations on Dimensions.

Article has an altmetric score of 1
SCHOLARLY ARTICLE
Control Flow in Active Inference Systems – Part II: Tensor Networks as General Models of Control Flow
1 Jun 2023IEEE Transactions on Molecular, Biological, and Multi-Scale Communications9(2):246-256
Co-authorsFields C, Fabrocini F, Friston K…
10.1109/TMBMC.2023.3272158
2

2 total citations on Dimensions.

Article has an altmetric score of 1
SCHOLARLY ARTICLE
Darwin’s agential materials: evolutionary implications of multiscale competency in developmental biology
1 Jun 2023Cellular and Molecular Life Sciences80(6)
Co-authorsLevin M
VIEW PDF10.1007/S00018-023-04790-Z
1

1 citation on Dimensions.

Article has an altmetric score of 61
SCHOLARLY ARTICLE
Morphoceuticals: Perspectives for discovery of drugs targeting anatomical control mechanisms in regenerative medicine, cancer and aging
1 Jun 2023Drug Discovery Today28(6)
Co-authorsPio-Lopez L, Levin M
VIEW PDF10.1016/J.DRUDIS.2023.103585
1

1 citation on Dimensions.

Article has an altmetric score of 17
SCHOLARLY ARTICLE
Morphoceuticals: Perspectives for discovery of drugs targeting anatomical control mechanisms in regenerative medicine, cancer and aging
Jun 2023DRUG DISCOVERY TODAY28(6):1-13
Co-authorsPio-Lopez L, Levin M
VIEW MORE INFO10.1016/J.DRUDIS.2023.103585THIS
SCHOLARLY ARTICLE
Cellular signaling pathways as plastic, proto-cognitive systems: Implications for biomedicine
12 May 2023Patterns4(5)
Co-authorsMathews J, Chang A, Devlin L…
VIEW PDF10.1016/J.PATTER.2023.100737
3

3 total citations on Dimensions.

Article has an altmetric score of 18
SCHOLARLY ARTICLE
Making and breaking symmetries in mind and life
14 Apr 2023Interface Focus13(3)
Co-authorsSafron A, Sakthivadivel DAR, Sheikhbahaee Z…
VIEW PDF10.1098/RSFS.2023.0015
Article has an altmetric score of 7
SCHOLARLY ARTICLE
The scaling of goals from cellular to anatomical homeostasis: an evolutionary simulation, experiment and analysis
14 Apr 2023Interface Focus13(3)
Co-authorsPio-Lopez L, Bischof J, LaPalme JV…
VIEW PDF10.1098/RSFS.2022.0072
1

1 citation on Dimensions.

Article has an altmetric score of 30
SCHOLARLY ARTICLE
The collective intelligence of evolution and development
Apr 2023Collective Intelligence2(2):263391372311683SAGE Publications
Co-authorsWatson R, Levin M
VIEW PDF10.1177/26339137231168355
Article has an altmetric score of 65
SCHOLARLY ARTICLE
Bioelectricity of non-excitable cells and multicellular pattern memories: Biophysical modeling
13 Mar 2023Physics Reports1004:1-31
Co-authorsCervera J, Levin M, Mafe S
10.1016/J.PHYSREP.2022.12.003
2

2 total citations on Dimensions.

Article has an altmetric score of 25
SCHOLARLY ARTICLE
There’s Plenty of Room Right Here: Biological Systems as Evolved, Overloaded, Multi-Scale Machines
1 Mar 2023Biomimetics8(1)
Co-authorsBongard J, Levin M
VIEW PDF10.3390/BIOMIMETICS8010110
4

4 total citations on Dimensions.

Article has an altmetric score of 26
SCHOLARLY ARTICLE
Transplantation of fragments from different planaria: A bioelectrical model for head regeneration
7 Feb 2023Journal of Theoretical Biology558
Co-authorsCervera J, Manzanares JA, Levin M…
VIEW PDF10.1016/J.JTBI.2022.111356
SCHOLARLY ARTICLE
Bioelectric networks: the cognitive glue enabling evolutionary scaling from physiology to mind
1 Jan 2023Animal Cognition
Co-authorsLevin M
VIEW PDF10.1007/S10071-023-01780-3
2

2 total citations on Dimensions.

Article has an altmetric score of 62
SCHOLARLY ARTICLE
Biological Robots: Perspectives on an Emerging Interdisciplinary Field
1 Jan 2023Soft Robotics
Co-authorsBlackiston D, Kriegman S, Bongard J…
10.1089/SORO.2022.0142
1

1 citation on Dimensions.

Article has an altmetric score of 56
SCHOLARLY ARTICLE
Cellular Competency during Development Alters Evolutionary Dynamics in an Artificial Embryogeny Model
1 Jan 2023Entropy25(1)
Co-authorsShreesha L, Levin M
VIEW PDF10.3390/E25010131
5

5 total citations on Dimensions.

Article has an altmetric score of 16
SCHOLARLY ARTICLE
Endless forms most beautiful 2.0: teleonomy and the bioengineering of chimaeric and synthetic organisms (July, blac073, 2022)
1 Jan 2023BIOLOGICAL JOURNAL OF THE LINNEAN SOCIETY138(1):141
Co-authorsClawson WP, Levin M
VIEW PDFVIEW MORE INFO10.1093/BIOLINNEAN/BLAC116
SCHOLARLY ARTICLE
Future medicine: from molecular pathways to the collective intelligence of the body
1 Jan 2023Trends in Molecular Medicine
Co-authorsLagasse E, Levin M
10.1016/J.MOLMED.2023.06.007

THE VOICE of Dr. Justin D. Pearlman, MD, PhD, FACC

PENDING

THE VOICE of  Stephen J. Williams, PhD

Ten TakeAway Points of Dr. Lustig’s talk on role of diet on the incidence of Type II Diabetes

 

  1. 25% of US children have fatty liver
  2. Type II diabetes can be manifested from fatty live with 151 million  people worldwide affected moving up to 568 million in 7 years
  3. A common myth is diabetes due to overweight condition driving the metabolic disease
  4. There is a trend of ‘lean’ diabetes or diabetes in lean people, therefore body mass index not a reliable biomarker for risk for diabetes
  5. Thirty percent of ‘obese’ people just have high subcutaneous fat.  the visceral fat is more problematic
  6. there are people who are ‘fat’ but insulin sensitive while have growth hormone receptor defects.  Points to other issues related to metabolic state other than insulin and potentially the insulin like growth factors
  7. At any BMI some patients are insulin sensitive while some resistant
  8. Visceral fat accumulation may be more due to chronic stress condition
  9. Fructose can decrease liver mitochondrial function
  10. A methionine and choline deficient diet can lead to rapid NASH development

 

Read Full Post »

Genomic data can predict miscarriage and IVF failure

Posted in Advanced Computing Platform, Artificial Intelligence - Breakthroughs in Theories and Technologies, Artificial Intelligence - General, Artificial Intelligence Applications in Health Care, Artificial Intelligence in Health Care - Tools & Innovations, Artificial Intelligence in Medicine - Application for Diagnosis, Artificial Intelligence in Medicine - Applications in Therapeutics, BioIT: BioInformatics, BioIT: BioInformatics, NGS, Clinical & Translational, Pharmaceutical R&D Informatics, Clinical Genomics, Cancer Informatics, Biological Engineering, Biological Networks, Biological Networks, Gene Regulation and Evolution, Biomarkers & Medical Diagnostics, Cell Level, Computational Biology/Systems and Bioinformatics, Computational Histopathology, Deep Learning in Pathology, Developmental biology, Diagnostics and Lab Tests, Digital HealthCare – biotech & internet joint ventures, Disease Biology, Genomic Testing: Methodology for Diagnosis, Genomics Pharmacy, HealthCare IT, Healthcare Reform, Machine Learning, MicroEngineering Cell-Tissue & Systems, Placenta, Preimplantation Genetic Diagnosis and Reproductive Genomics, Reproductive Andrology, Embryology, Genomic Endocrinology, Preimplantation Genetic Diagnosis and Reproductive Genomics, Reproductive Biology & Bio Instrumentation, therapeutics, Tissue Engineering, Translational Research, Women Health, tagged , , , , , on June 15, 2022| 1 Comment »

Reporter and Curator: Dr. Sudipta Saha, Ph.D.

Infertility is a major reproductive health issue that affects about 12% of women of reproductive age in the United States. Aneuploidy in eggs accounts for a significant proportion of early miscarriage and in vitro fertilization failure. Recent studies have shown that genetic variants in several genes affect chromosome segregation fidelity and predispose women to a higher incidence of egg aneuploidy. However, the exact genetic causes of aneuploid egg production remain unclear, making it difficult to diagnose infertility based on individual genetic variants in mother’s genome. Although, age is a predictive factor for aneuploidy, it is not a highly accurate gauge because aneuploidy rates within individuals of the same age can vary dramatically.

Researchers described a technique combining genomic sequencing with machine-learning methods to predict the possibility a woman will undergo a miscarriage because of egg aneuploidy—a term describing a human egg with an abnormal number of chromosomes. The scientists were able to examine genetic samples of patients using a technique called “whole exome sequencing,” which allowed researchers to home in on the protein coding sections of the vast human genome. Then they created software using machine learning, an aspect of artificial intelligence in which programs can learn and make predictions without following specific instructions. To do so, the researchers developed algorithms and statistical models that analyzed and drew inferences from patterns in the genetic data.

As a result, the scientists were able to create a specific risk score based on a woman’s genome. The scientists also identified three genes—MCM5, FGGY and DDX60L—that when mutated and are highly associated with a risk of producing eggs with aneuploidy. So, the report demonstrated that sequencing data can be mined to predict patients’ aneuploidy risk thus improving clinical diagnosis. The candidate genes and pathways that were identified in the present study are promising targets for future aneuploidy studies. Identifying genetic variations with more predictive power will serve women and their treating clinicians with better information.

References:

https://medicalxpress-com.cdn.ampproject.org/c/s/medicalxpress.com/news/2022-06-miscarriage-failure-vitro-fertilization-genomic.amp

https://pubmed.ncbi.nlm.nih.gov/35347416/

https://pubmed.ncbi.nlm.nih.gov/31552087/

https://pubmed.ncbi.nlm.nih.gov/33193747/

https://pubmed.ncbi.nlm.nih.gov/33197264/

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Biomolecular Condensates: A new approach to biology originated @MIT – Drug Discovery at DewPoint Therapeutics, Cambridge, MA gets new leaders, Ameet Nathwani, MD (ex-Sanofi, ex-Novartis) as CEO and Arie Belldegrun, PhD on R&D

Posted in Bio Instrumentation in Experimental Life Sciences Research, Biological Engineering, Biological Networks, Gene Regulation and Evolution, Biomedical Measurement Science, BioTechnology - Venture Creation, BioTechnology - Venture Creation, Venture Capital, Gene Regulation, Genetics & Innovations in Treatment, Genetics & Pharmaceutical, Genome Biology, Genomics Pharmacy on October 15, 2020| Leave a Comment »

Biomolecular Condensates: A new approach to biology originated @MIT – Drug Discovery at DewPoint Therapeutics, Cambridge, MA gets new leaders, Ameet Nathwani, MD (ex-Sanofi, ex-Novartis) as Chief Executive Officer and Arie Belldegrun, PhD (ex-Kite Therapeutics) on R&D

Curator & Reporter: Aviva Lev-Ari, PhD, RN

 

Hooked by the science, Arie Belldegrun joins a group of influentials who believe Dewpoint may have the key to the next big thing in biotech

A new approach to biology

“The real voyage of discovery consists, not in seeking new landscapes, but in having new eyes.” Marcel Proust

Starting with the study of P granules in C.elegans embryos in 2009, Tony Hyman, working with his collaborators like Frank Julicher, Cliff Brangwynne, Simon Alberti, Mike Rosen, and Rohit Pappu, began to unravel the mysteries of biomolecular condensates. These scientists realized that P granules behave like liquid droplets that form by phase separation (think of oil droplets in salad dressing) and called them condensates.

In subsequent studies, they found to their surprise that many compartments inside cells had the behavior of condensates: they are liquid-like and form by phase separation.

Inspired by the work of Tony and his colleagues, Richard Young, Phillip Sharp, and Arup Chakraborty at MIT applied these approaches to the study of gene expression, similarly shedding light on many important questions in gene control.

a video thumbnail

Rick Young on condensates and gene control.

a video thumbnail

Tony Hyman on how cells form compartments. (From LatestThinking.org via CC BY 4.0; trimmed for length.)

Foundational Papers in Biomolecular Condensates

Germline P granules are liquid droplets that localize by controlled dissolution/condensation (Science, June 2009)

Liquid-Liquid Phase Separation in Biology (Annual Review of Cell & Developmental Biology, Oct 2014)

A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation (Cell, Aug 2015)

Biomolecular condensates: organizers of cellular biochemistry (Nature Review Cell Biology, Feb 2017)

A Phase Separation Model for Transcriptional Control. (Cell, March 2017)

Transcription Factors Activate Genes through the Phase-Separation Capacity of Their Activation Domains (Cell, Nov 2018)

SOURCE

https://dewpointx.com/

 

Press releases and Dewpoint in the news

 

  • Dewpoint Therapeutics Appoints Ameet Nathwani as Chief Executive Officer

    Dewpoint

  • New York Times interviews Rick Young and Amy Gladfelter on the role of condensate “droplets” in COVID-19

    New York Times

  • Dewpoint Therapeutics raises $77 million to go after ‘undruggable’ diseases

    Boston Globe

  • Hooked by the science, Arie Belldegrun joins a group of influentials who believe Dewpoint may have the key to the next big thing in biotech

    Endpoint News

  • Dewpoint Therapeutics to put ‘pedal to the metal’ with $77M round

    FierceBiotech

  • Dewpoint Therapeutics Raises $77M Series B Financing to Advance the Development of Drugs That Target Biomolecular Condensates

    Dewpoint

  • 21 biotech startups that are set to take off, according to top VCs

    Business Insider

  • Proteins — and labs — coming together to prevent Rett Syndrome

    Whitehead Institute

  • Dewpoint Therapeutics Collaborates with Merck to Evaluate Novel Approach for the Treatment of HIV

    Dewpoint

  • Discovery of how cancer drugs find their targets could lead to a new toolset for drug development

    Whitehead Institute

SOURCE

https://dewpointx.com/news/

Other related article published in this Online Open Access Scientific Journal include: 

Economic Potential of a Drug Invention (Prof. Zelig Eshhar, Weitzman Institute, registered the patent) versus a Cancer Drug in Clinical Trials: CAR-T as a Case in Point, developed by Kite Pharma, under Arie Belldegrun, CEO, acquired by Gilead for $11.9 billion, 8/2017.

https://pharmaceuticalintelligence.com/2017/10/04/economic-potential-of-a-drug-invention-prof-zelig-eshhar-weitzman-institute-registered-the-patent-versus-a-cancer-drug-in-clinical-trials-car-t-as-a-case-in-point-developed-by-kite-pharma-unde/

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Injectable inclisiran (siRNA) as 3rd anti-PCSK9 behind mAbs Repatha and Praluent

Posted in Atherogenic Processes & Pathology, Drug Delivery Platform Technology, Exosomes: Natural Carriers for siRNA Delivery, FDA Regulatory Affairs, Frontiers in Cardiology and Cardiovascular Disorders, Gene Therapy & Gene Editing Development, Genome Biology, Genomics Pharmacy, Origins of Cardiovascular Disease, Pharmacotherapy of Cardiovascular Disease on November 18, 2019| Leave a Comment »

Injectable inclisiran (siRNA) as 3rd anti-PCSK9 behind mAbs Repatha and Praluent

Reporter: Aviva Lev-Ari, PhD, RN

UPDATED on 4/27/2021

Combining AstraZeneca’s ‘good’ cholesterol booster with PCSK9 inhibition shows promise in heart disease

The drug, dubbed MEDI5884, is designed to neutralize a circulating enzyme called endothelial lipase. The protein regulates HDL in the blood by breaking down lipids called phospholipids. Previous studies have found increased endothelial lipase levels in people with obesity and coronary artery disease.

In monkeys, blocking endothelial lipase with MEDI5884 increased plasma HDL-C in a dose-dependent manner, the AZ team reported in a study published in Science Translational Medicine. At the highest dose tested, researchers recorded a roughly twofold increase in HDL-C within two weeks. The effect lasted throughout the two-month study.

RELATED: Regeneron’s Evkeeza, carrying big price tag, wins FDA approval in ultra-rare cholesterol disease

The AZ team also tested the drug in a small group of healthy volunteers in a phase 1 study. The treatment increased HDL-C—though to a lesser extent than it had in the monkeys—without causing any major side effects, the researchers said. The drug also increased the size and number of HDL particles.

Oddly, the researchers also observed a concurrent increase in bad cholesterol in both monkeys and humans. So they decided to combine MEDI5884 with an anti-PCSK9 antibody drug. The FDA has approved two PCSK9 inhibitors to lower LDL-C and reduce CV risks: Sanofi and Regeneron’s Praluent and Amgen’s Repatha.

In monkeys pretreated with a PCSK9 inhibitor, MEDI5884 raised HDL-C to a similar degree while the magnitude of the increase in LDL-C was reduced, according to the team.

PCSK9 drugs once carried megablockbuster potential thanks to their strong LDL-lowering effects, but neither Praluent nor Repatha has lived up to expectations. Payer pressure and an ongoing price war haven’t helped either player in the market.

The AZ team suggested combining endothelial lipase inhibition with a PCSK9 blockade could enhance the efficacy of each component. “[I]t is intriguing to consider dual inhibition of EL and PCSK9 and the potential for synergy that may arise from combined action of the two complementary mechanisms, both targeting different aspects of [reverse cholesterol transport],” the scientists wrote in the study.

SOURCE

https://www.fiercebiotech.com/research/combination-astrazeneca-s-booster-good-cholesterol-and-pcsk9-inhibition-shows-promise-for?mkt_tok=Mjk0LU1RRi0wNTYAAAF8sqquETWOW6kv9ecI1ikHVxrB3MWy4NubkNVJKoZOj4sPNcjIYQiDqfMjH6GAiU0bTgxkNFh_lPioA6TvQOFf_kjQSRvue6JVXWUKGDW1qltaaE4&mrkid=993697

Next stop, filing for approval. The Medicines Company has said it plans to submit inclisiran for FDA review by the end of 2019 and EMA review in the first quarter of 2020. If the drug’s approved it’ll be the third anti-PCSK9 behind mAbs Repatha and Praluent, and could try to compete on price to gain market share.

The company’s been very careful not to disclose its pricing plans for inclisiran, said ORION-10 principal investigator Dr. Scott Wright, professor and cardiologist at the Mayo Clinic. But, Wright said, The Medicines Co. and other companies he advises on clinical trial design “have learned the lesson from the sponsors of the monoclonal antibodies [against PCSK9], they’re not going to come in and price a drug that’s out of proportion to what the market will bear.” 

Because the anti-PCSK9 mAbs were initially priced beyond what patients and insurers were willing to pay, “now most of the physicians that I meet have a resistance to using them just because they’re fearful about the pre-approval process” with insurers, said Wright. “They’re much easier to get approved and paid for today than they’ve ever been, but that message is not out in the medical community yet.”

SOURCE

From: “STAT: AHA in 30 Seconds” <newsletter@statnews.com>

Reply-To: “STAT: AHA in 30 Seconds” <newsletter@statnews.com>

Date: Monday, November 18, 2019 at 2:59 PM

To: Aviva Lev-Ari <AvivaLev-Ari@alum.berkeley.edu>

Subject: Interim look at Amarin data, an inclisiran update, & Philly’s giant heart

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scPopCorn: A New Computational Method for Subpopulation Detection and their Comparative Analysis Across Single-Cell Experiments

Posted in Advanced Computing Platform, Artificial Intelligence Applications in Health Care, Artificial Intelligence in Health Care - Tools & Innovations, Artificial Intelligence in Medicine - Applications in Therapeutics, Big Data & Analytics, BioIT: BioInformatics, BioIT: BioInformatics, NGS, Clinical & Translational, Pharmaceutical R&D Informatics, Clinical Genomics, Cancer Informatics, Biotechnology, Cancer Genomics, Cardiovascular Pharmacogenomics, Cell Biology, Clinical Genomics, Computational Biology/Systems and Bioinformatics, Data Science, Genome Biology, Genomic Analysis of EKG Electrophysiology Genomics, Genomic Endocrinology, Genomic Expression, Genomic Testing: Methodology for Diagnosis, Genomics Pharmacy, Immuno-Oncology & Genomics, Nutrigenomics, Personalized and Precision Medicine & Genomic Research, Pharmacogenomics, Preimplantation Genetic Diagnosis and Reproductive Genomics, Reproductive Andrology, Embryology, Genomic Endocrinology, Preimplantation Genetic Diagnosis and Reproductive Genomics, RNA Biology, RNA Biology, Cancer and Therapeutics, Single Cell Genomics, Single-cell sequencing, Uncategorized, tagged , , , , , on July 16, 2019| Leave a Comment »

scPopCorn: A New Computational Method for Subpopulation Detection and their Comparative Analysis Across Single-Cell Experiments

Reporter and Curator: Dr. Sudipta Saha, Ph.D.

4.2.5

4.2.5   scPopCorn: A New Computational Method for Subpopulation Detection and their Comparative Analysis Across Single-Cell Experiments, Volume 2 (Volume Two: Latest in Genomics Methodologies for Therapeutics: Gene Editing, NGS and BioInformatics, Simulations and the Genome Ontology), Part 4: Single Cell Genomics

Present day technological advances have facilitated unprecedented opportunities for studying biological systems at single-cell level resolution. For example, single-cell RNA sequencing (scRNA-seq) enables the measurement of transcriptomic information of thousands of individual cells in one experiment. Analyses of such data provide information that was not accessible using bulk sequencing, which can only assess average properties of cell populations. Single-cell measurements, however, can capture the heterogeneity of a population of cells. In particular, single-cell studies allow for the identification of novel cell types, states, and dynamics.

One of the most prominent uses of the scRNA-seq technology is the identification of subpopulations of cells present in a sample and comparing such subpopulations across samples. Such information is crucial for understanding the heterogeneity of cells in a sample and for comparative analysis of samples from different conditions, tissues, and species. A frequently used approach is to cluster every dataset separately, inspect marker genes for each cluster, and compare these clusters in an attempt to determine which cell types were shared between samples. This approach, however, relies on the existence of predefined or clearly identifiable marker genes and their consistent measurement across subpopulations.

Although the aligned data can then be clustered to reveal subpopulations and their correspondence, solving the subpopulation-mapping problem by performing global alignment first and clustering second overlooks the original information about subpopulations existing in each experiment. In contrast, an approach addressing this problem directly might represent a more suitable solution. So, keeping this in mind the researchers developed a computational method, single-cell subpopulations comparison (scPopCorn), that allows for comparative analysis of two or more single-cell populations.

The performance of scPopCorn was tested in three distinct settings. First, its potential was demonstrated in identifying and aligning subpopulations from single-cell data from human and mouse pancreatic single-cell data. Next, scPopCorn was applied to the task of aligning biological replicates of mouse kidney single-cell data. scPopCorn achieved the best performance over the previously published tools. Finally, it was applied to compare populations of cells from cancer and healthy brain tissues, revealing the relation of neoplastic cells to neural cells and astrocytes. Consequently, as a result of this integrative approach, scPopCorn provides a powerful tool for comparative analysis of single-cell populations.

This scPopCorn is basically a computational method for the identification of subpopulations of cells present within individual single-cell experiments and mapping of these subpopulations across these experiments. Different from other approaches, scPopCorn performs the tasks of population identification and mapping simultaneously by optimizing a function that combines both objectives. When applied to complex biological data, scPopCorn outperforms previous methods. However, it should be kept in mind that scPopCorn assumes the input single-cell data to consist of separable subpopulations and it is not designed to perform a comparative analysis of single cell trajectories datasets that do not fulfill this constraint.

Several innovations developed in this work contributed to the performance of scPopCorn. First, unifying the above-mentioned tasks into a single problem statement allowed for integrating the signal from different experiments while identifying subpopulations within each experiment. Such an incorporation aids the reduction of biological and experimental noise. The researchers believe that the ideas introduced in scPopCorn not only enabled the design of a highly accurate identification of subpopulations and mapping approach, but can also provide a stepping stone for other tools to interrogate the relationships between single cell experiments.

References:

https://www.sciencedirect.com/science/article/pii/S2405471219301887

https://www.tandfonline.com/doi/abs/10.1080/23307706.2017.1397554

https://ieeexplore.ieee.org/abstract/document/4031383

https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0927-y

https://www.sciencedirect.com/science/article/pii/S2405471216302666

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First Cost-Effectiveness Study of Multi-Gene Panel Sequencing in Advanced Non-Small Cell Lung Cancer Shows Moderate Cost-Effectiveness, Exposes Crucial Practice Gap

Posted in Cancer and Current Therapeutics, Cancer Informatics, Genetics & Innovations in Treatment, Genetics & Pharmaceutical, Genome Biology, Genomic Expression, Genomic Testing: Methodology for Diagnosis, Genomics Pharmacy, Mutagenesis, Personalized and Precision Medicine & Genomic Research on June 27, 2019| Leave a Comment »

First Cost-Effectiveness Study of Multi-Gene Panel Sequencing in Advanced Non-Small Cell Lung Cancer Shows Moderate Cost-Effectiveness, Exposes Crucial Practice Gap, Volume 2 (Volume Two: Latest in Genomics Methodologies for Therapeutics: Gene Editing, NGS and BioInformatics, Simulations and the Genome Ontology), Part 1: Next Generation Sequencing (NGS)

First Cost-Effectiveness Study of Multi-Gene Panel Sequencing in Advanced Non-Small Cell Lung Cancer Shows Moderate Cost-Effectiveness, Exposes Crucial Practice Gap

WASHINGTON (June 27, 2019) — The results of the first economic modeling study to estimate the cost-effectiveness of “multi-gene panel sequencing” (MGPS) as compared to standard-of-care, single-gene tests for patients with advanced non-small cell lung cancer (aNSCLC) show that the MGPS tests are moderately cost-effective but could deliver more value if patients with test results identifying actionable genetic mutations consistently received genetically guided treatments. The results of the study, which was commissioned by the Personalized Medicine Coalition (PMC), underline the need to align clinical practices with an era of personalized medicine in which physicians can use diagnostic tests to identify specific biological markers that inform targeted prevention and treatment plans.

The study, which was published yesterday in JCO Clinical Cancer Informatics, analyzed the clinical and economic value of using MGPS testing to identify patients with tumors that over-express genetic mutations that could be targeted by available therapies designed to inhibit the function of those genes — a mainstay of modern care for aNSCLC patients. Using data provided by Flatiron Health, researchers examined clinical and cost information associated with the care of 5,688 patients with aNSCLC treated between 2011 – 2016, separating them into cohorts who received MGPS tests that assess at least 30 genetic mutations at once and those who received only “single-marker genetic testing” (SMGT) of less than 30 genes.

Compared to SMGT, the MGPS testing strategy, including downstream treatment and monitoring of disease, incurred costs equal to $148,478 for each year of life that it facilitated, a level suggesting that MGPS is moderately cost-effective compared to commonly cited thresholds in the U.S., which range from $50,000 to $200,000 per life year (LY) gained.

The authors of the study point out, however, that physicians only prescribed a targeted therapy to some of the patients whose MGPS test results revealed actionable mutations. MGPS tests can only improve downstream patient outcomes if actionable results are used to put the patient on a targeted treatment regimen that is more effective than the therapy they would otherwise have been prescribed. It is therefore impossible for the cost of an MGPS test to translate into additional LYs if actionable results do not result in the selection of a targeted treatment regimen.

Although MGPS testing revealed actionable mutations in 30.1 percent of the patients in the study cohort, only 21.4 percent of patients who underwent MGPS testing received a targeted treatment.

The study’s authors calculated that if all MGPS-tested patients with actionable mutations had received a targeted therapy, MGPS testing would deliver measurably better value ($110,000 per LY gained).

“This research underlines the importance of ensuring that clinical practices keep pace with scientific progress in personalized medicine so that we can maximize the benefits of diagnostic tests that can improve patient care and make the health system more efficient by ensuring that safe and effective targeted therapies are prescribed to those patients who will benefit,” said PMC President Edward Abrahams.

The study’s authors include Dr. Lotte Steuten, Vice President and Head of Consulting, The Office of Health Economics, London, U.K., and Affiliate Associate Faculty Member, Hutchinson Institute for Cancer Outcomes Research, Fred Hutchinson Cancer Research Center; Dr. Bernardo Goulart, Associate Faculty Member, Hutchinson Institute for Cancer Outcomes Research, Fred Hutchinson Cancer Research Center; Dr. Neal Meropol, Vice President, Research Oncology, Flatiron Health; Dr. Daryl Pritchard, Senior Vice President, Science Policy, Personalized Medicine Coalition; and Dr. Scott Ramsey, Director, Hutchinson Institute for Cancer Outcomes Research, Fred Hutchinson Cancer Research Center.

###

About the Personalized Medicine Coalition:

The Personalized Medicine Coalition, representing innovators, scientists, patients, providers and payers, promotes the understanding and adoption of personalized medicine concepts, services and products to benefit patients and the health system. For more information, please visit www.personalizedmedicinecoalition.org.

SOURCE

From: Personalized Medicine Coalition <pmc@personalizedmedicinecoalition.org>

Reply-To: “Christopher Wells (PMC)” <cwells@personalizedmedicinecoalition.org>

Date: Thursday, June 27, 2019 at 9:32 AM

To: Aviva Lev-Ari <AvivaLev-Ari@alum.berkeley.edu>

Subject: First Cost-Effectiveness Study of MGPS in aNSCLC Shows Moderate Cost-Effectiveness, Exposes Crucial Practice Gap

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Tweets and Re-Tweets by @Pharma_BI ‏and @AVIVA1950 at 2019 Petrie-Flom Center Annual Conference: Consuming Genetics: Ethical and Legal Considerations of New Technologies, Friday, May 17, 2019 from 8:00 AM to 5:00 PM EDT @Harvard_Law

Posted in Conference Coverage with Social Media, Genetics & Innovations in Treatment, Genetics & Pharmaceutical, Genome Biology, Genomic Testing: Methodology for Diagnosis, Genomics Pharmacy on May 20, 2019| Leave a Comment »

Tweets and Re-Tweets by @Pharma_BI ‏and @AVIVA1950 at 2019 Petrie-Flom Center Annual Conference: Consuming Genetics: Ethical and Legal Considerations of New Technologies, Friday, May 17, 2019 from 8:00 AM to 5:00 PM EDT @Harvard_Law

 

Tweets by @Pharma_BI ‏and @AVIVA1950

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    AMAZING conference on Genomics and Ethics

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    Amazing Conference LIVE 2019 Petrie-Flom Center Annual Conference: : and Considerations of New Technologies, Friday, May 17, 2019 from 8:00 AM to 5:00 PM EDT via

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    Concluding remark cited by ⁦⁩ ⁦⁩ ⁦⁩ Great Panel on the Impact of Genetic Information new conceptual approach prioritizing parental autonomy with restriction built in

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    ⁦⁩ ⁦⁩ ⁦⁩ NIPT test for fetal sex blood type Trisonomy Whole Genome-wide analysis routinization of procedure READY at Birth impact intrafamilial discrimination babySeqProject G2P ⁦⁩

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    Leila Jamal, NIAID benefit the patient, positive autonomy, benefiesence – how potentially impactful is the Test Information Nondirectiveness – Why? distance from eugenics + abortion politics persons and patient autonomy

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    Leila Jamal, NIAID Genetic and Genomics Testing: Prenata, Pediatric, Vancer, other: Cardiology, Neurology, Hematology, Infectious diseases, pharmaco genomics, DTC, Ancestry

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    Emily Qian, Genetic Counselor, Veritas Genetics – Physician-Mediated Elective Whole Genome Sequencing Tests: Impacts on Informed Consent DTC Physician-initiated Genetic Testing Physician-initiated DTC Informed consent is a process

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    ⁦⁩ ⁦⁩ Recommendation based on best evidence guidelines available

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    Natalie RamGenetic Genealogy and the Problem of Familial Forensic Identification Familial Forensic Identification – Privacy for information held by Telephone companies Involuntarily Identification by genetic data genetic markers

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    Natalie Ram, Assistant Professor of Law, University of Baltimore School of Law – Genetic Genealogy and the Problem of Familial Forensic Identification Opt in to share genetic data on the platforms opt in national DB

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    Natalie Ram, Univ of Baltimore School of Law Genetic relatedness is stickier than social relations Voluntary sharing of genetic information – no other party can protect genetic information of any person, thu, if shared voluntarily

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    ⁦⁩ ⁦⁩ gene APO-E e-2, e-3, e-4 If e-4 variant risk AD is 40% 23andMe since 2011 rest for e-4 unlock result # copies of e-4 are present little clinical value post diagnosis recommendation do not depend on e-4

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    Jonathan Kahn, Precision Medicine and the Resurgence of Race in Genomic Medicineprecision medicine – classification of individuals into subpopulations that differ in their susceptability to a particular disease

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    Kif Augustine-Adams, BYU Law School – Generational Failures of Law and Ethics: Rape, Mormon Orthodoxy, the Revelatory Power of Ancestry DNAComplex Sorrows: Anscestry DNA – 20 Millions records. Complete anonymity and privacy collapsed

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    Regulating Consumer Genetic Technologies Conclusions: DTC policies are over the place, FDA poised to regulate Big Data, Human Genomics Somatic vs Germline are key distinctions NY Dept Health 3rd Party Certification in Genomics

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    Scott Schweikart, Council on Ethical and Judicial Affairs, American Medical Association and Legal Editor, AMA Journal of Ethics – Human Gene Editing: An Ethical Analysis and Arguments for Regulatory Guidance National and Global Levels

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    Catherine M. Sharkey, The Emerging Role of the FDA Genetic predisposition – BRCA I & II approved Testing Pharmaco-genetic Test authorization incorrect interpretation, incorrect action based on results False positive and False negative

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    Scott Schweikart, AMA Ethical concernsTechnologiesCRISPR-Cas-9 Somatic vs GermlineAMA: Individual liberty (1) Autonomy & Gene Editing (2) Non-maleficence and Beneficence (3) Social Justice Treatment vs Enhancement National Regulations

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    Patricia J. Zettler, Regulators can do: Promote self regulations vs restrict community labs Drugs: premarket approval by FDA 11/2017: any use of CRISPR is subjected to regulation Bio hacking materials are distributed outside channels

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    Patricia J. Zettler, FDA agency – regulation can’t reach everything, Not seen wide range abuse, FDA encourage learning and information dissemination and Educate

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    Maxwell J. Mehlman, Governing Non-Traditional Biology On-Line gene editing equipment CRISPR-Cas9 – IGEM – international Competition in community of Scientists Biological weapons – issues of Prior Art impeding patentability may come up

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    Maxwell J. Mehlman Harm to subjects Biosafety Safety Phase I Gene drives in Human?? – Human gene editing: “Nanoparticle and liposomal delivery” and “Allelic drive using CRISPR”

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    ⁦⁩ ⁦⁩ regulatory options: liabilities, legal requirements industry restrictions on access to material community labs, NTB IRBs self-governing bodies FBI surveillance

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    Barbara J. Evans Is it FDA duty on Cosmetic enhancement Genome is Software, US is not good in regulating software The Harm Principle, Legal Paternalism benevolent vs non-benevolent Legal Moralism – no body is harmed but it’s just wrong

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    Barbara J. Evans Multiple Agencies: In the 80’s on Future Products of Biotechnology: EPA, FDA, USDA, OSHA, CPSC, NIH, NEPA, ESA, APA Skepticism that compulsory regulation for compliance with norms

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    Barbara J. Evans Regulatory Challenges Citizen Science and DIY Bio democratization of science and medicine narrative, new frontiers for institutional science narrative nostalgia narrative, political narrative: “hacker” portrayals

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    ⁦⁩ in Preparing for Future Products of Biotechnology, NAS

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    Nita Farahany, Professor Law, Philosophy Duke Law School need new Framework if anonymity is dead, most uses are diverted for medicinePrivacy is improving, ACA – protects from preexisting conditionsIndividual costs vs societal benefits

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    Liza Vertinsky Courts: Pushing the boundaries: (1) Privacy (2) publicity rights (3) property (commodificationPresidential Figures: Infidelity gene, gambling geneLegal pathways Junk DNA Law enforcement databasesAlternative legal framing

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    Kayte Spector-Bagdady, Data coming into Academia – Genetic data partnerships Academia (41% NIH funding) and Industry: Use of existing private data, company performs analysisPatients: using data and specimens in ways they do not wish

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    Kayte Spector-Bagdady, to secondary research: stay anonymousPublic health covers Informed consent forms – conceptualize for secondary research protocols Transparency In BioBank Research 67% commercialization of biospecimens agree

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    Property and Health Data: Excludability, Alienability and Divisibility, Valuation and compensation, Unstewarded and Orphan data, duration, tracking Propertization of medical information effect on biomedical research

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    Genetic “Property” Statues: @CO – genetic information pertain to the individual health data – common law Personal Property vs Information as Property object

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    direct consumer protection may get that by Claim of conversion – Common Law Genetic Testing companies are protected by three legal laws consumers as employees face genetic information been accessed by employers via Wellness Programs

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    Courts shows a newfound openness to claims for genetic conversion claims will not stifle reaserch or create moral harms consumers genetics, claims for genetic conversion necessary to adequately protect people’s interests in their DNA

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    ⁦⁩ ⁦⁩ three new regulations of ownership of genetic test information ownership even Dx of breast cancer Insurance may not cover BRCA testing

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    ⁦⁩ ⁦⁩ employment law and genetic testing property ownership

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    Family not in treatment relationship with the Researcher – Court rejected the claim family donated to research unfair benefir of the Hospital from the data and tissue donatedClaim of conversion – Common LawGene by Gene Family Tree DNA

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    Insurance may or may not cover BRCA testing Law suit on that matter is pending

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    Life insurance company initiated genetic testing: (a) Gatekeeping policy underwriting new comer applicants (b) Wellness Employer wellness programs incentivize healthy behavior Incorporate genetic testing into wellness Programs Testing

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    wellness Programs Test for preventing genetic conditions Like BRCA, Lynch syndrome, preventable – win/win proposition –>>> Healthier employees. Studies show shift of cost from employer to employee and employer have access to genetic i

 

 

RE-TWEETS

 

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    Max Mehlman thinks “DIYBio” is problematic b/c often team efforts; “biohacking” has negative connotations. Suggests “non-traditional biology.”

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    In reviewing how reviewed various tests, Catherine Sharkey discusses how some were reviewed through De Novo and others through 510(k) pathway and benefits and drawbacks of each.

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    . invokes THE CONE OF SILENCE. NO MORE DATA FROM THIS TALK! Medical/scientific publishing norms are weird.

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    A very full house today (480 people registered!) for the Consuming Genetics conference . opening a day that promises to be fascinating. Kudos also for selecting hot topics and amazing speakers.

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    Talking about her ⁦team’s ⁩ paper ⁦⁩ shows most patients want notification of commercial use of biospecimens, most are uncomfortable about profit from biospecimens, but feel better if reinvested in research. ⁦⁩

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    You don’t have to identify as a biohacker to understand their goals, interests, and culture.

    “I don’t identify as a biohacker.” with a distinctly atypical disclaimer–but not out of place here at
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    Blog post about about my upcoming presentation at Petrie-Flom Center’s upcoming Consumer Genetics conference this Friday, May 17.

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    Incredibly difficult topic.

    Excellent, powerful talk-made not weaker bec/no solution is in sight. People want anonymity as adoption “birth parents” for good personal reasons, & had justified expectations of it. Children have real interests in knowing. Genetic genealogy means it will (almost) always be known …
    1 retweet2 likes
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    I asked Maxwell Mehlman how he envisioned biohackers could form an IRB-style review process. One suggestion was to engage with insitutional IRBs. Raise your hand if you think an establishment IRB would approve enhancement experiments? (I don’t…)

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    Gene editing has become cheaper, easier to do in community labs. Max Mehlman ⁦⁩ compares it to where Steve Jobs and Bill Gates began with the personal computer. But US gov has listed as a “weapon of mass destruction” ⁦⁩

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    Thanks to for hosting another great conference!

    Is ⁦⁩ ‘s test for APOE associated with Alzheimer’s different ethically speaking from its other tests? ⁦⁩ ⁦⁩ discuss ⁦⁩
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    “Diversity” means a LOT of different things–it’s very easy to slip back and forth (problematically) between molecular/genetic diversity and social constructs of race. Just using “diversity” elides and blurs important concepts. – Jonathan Kahn @

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    Audience member during Q&A calls the first group of talks “very very interesting — and terrifying.” That’s what we’re here for, folks. These issues are real and we’re happy you’re here to talk about them with us.

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    Just FYI my research showed you cannot waive statutory nondiscrim rights (under GINA or others) but can waive right to judicial forum to decide if there has been a violation (2009 Pyett v 14 Penn Plaza decision-ie case after GINA-overturned 30 years of precedence)

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    FYI in Perlmutter & Peerenboom, the claim was not ownership in the DNA material. It was in the genetic information contained within it

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    “If I want to edit my genes and make my skin glow green, whose business is that?” Barbara Evans on paternalism issues in our views of regulating DIYbio

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    Takeaways from Regulating : Hazel: existing DTC genetic privacy policies are all over the place Sharkey: in an era of big data, FDA is poised to pose enhanced role as health information regulator Schweikart: in gene editing, somatic ≠ germline editing

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     May 16

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    I have been waiting so long for this and is finally here!

    Kicking off what I expect to be a fascinating evening of discussions of consumer genetics at the American Acedemy of Arts and Sciences organized by kudos …
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    Many of the regulatory issues/possibilities raised by DIYbio will presented by (co-authors and ) “What can we do with what we’ve already got?”

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     May 17

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    Moderators summary: In today’s panel we heard: -Property law won’t work -Anonymity is dead -Data is being commercialized and we don’t realize it -May be need for publicity rights for DNA. But there is hope. Good things are being done with this data.

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     May 17

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    Is ⁦⁩ right, asks Vertinsky ⁦⁩,to be worried about “genetic ” publishing of information derived from your genetic information (especially discarded DNA). Or a presidential candidate ? What role for law? ⁦⁩

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    Interesting points by : Because many biohacking materials exchanges may not take place in traditional commercial contexts, attempting to regulate the trade of materials could prove difficult for FDA.

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    We have not seen much FDA involvement in “genetic biohacking” says , but that might be a shame.Don’t need “harsh involvement” but “engagement” such as education — e.g., how long you can leave potato salad out at picnic, does not mean enforcement

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    On genetic ownership and federalism. ⁦⁩ discusses the 5 states that have protected genetic property and skeptical about how well thought out the common law property approach has been. ⁦⁩ ⁦⁩

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    “When you’re doing something that’s really high risk and cutting edge, maybe you SHOULD experiment on yourself–maybe that’s the most ethical way.” Barbara Evans talks up self-experimentation (reffing previous Nobels) @

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     May 17

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    I feel simultanously very overwhelmed and very excited

    A very full house today (480 people registered!) for the Consuming Genetics conference . opening a day that promises to be fascinating. Kudos also …
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    “Whatever the boundaries of FDA’s authority are [re: biohacking]…there are important questions about how it should use that authority.” @

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    One person uploading info to a genetic database illuminates hundreds or thousands of other people–those people’s info isn’t “voluntarily” in datasets. Genetic databases familial searches aren’t voluntary. Natalie Ram @

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    DIY gene therapy, CRISPR, etc. – failures likely to cause more harm (inadvertent) than successes. Speaker at analogizes to regulation of drones, beer, computer hacking many stakeholders with competing interests.

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    Excellent talk by showing that in the face of clinicians can be legally damned if they do use revealed info and also damned if they don’t–potentially liable for patient’s misguided medical decisions

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     May 17

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    “We need to rethink our Informed Consent methods for our secondary research protocols” – given all the confusion arising among Patients, their Doctors and the Researchers working with the data specimens about the use of the data, says – at Wasserstein Hall

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    How do we deal with Publicity Rights in DNA? Thought-provoking talk by Professor Vertinsky of The “Genetic Paparazzi” conundrum – at Wasserstein Hall

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    argues against recognizing Property Rights in personal health data: “A vast amount of ‘orphan Biomedical data’ is useless” – doesn’t help advance research in the field Other protections already available and more suitable

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    Leading up to Friday’s Conference on Consuming Genetics () here’s a post about my topic: why law isn’t a good fit for health data.

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     May 17

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    Professor Kif Augustine-Adams of says that individual privacy settings on Consumer Genetics testing have limited power; total anonymity is a myth. It is only a matter of time before the relational nature of DNA makes all connections identifiable. – at Wasserstein Hall

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     May 17

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    “Wellness Programs” by Employers or Insurance underwriters – how should they deal with collecting genetic data? suggests Employers / Insurers only act as mediators between members and DTC genetic testing companies, and only get aggregate, anonymized data – at Harvard Law School

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     May 17

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    Natalie Ram: there’s an idea of voluntariness re: searching & genetic information. THAT’S FICTION. Genetic relatedness is different–it’s sticky! “I could decline my aunt’s FaceBook request…but [she] can still serve as reliable-as-ever genetic informant on me.”

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    A lot of thought-provoking posts this month from leading scholars in law, ethics, genetics. Get immersed in the issues before Friday’s conference!

    We have a digital symposium running as a complement to our Annual Conference on this week— Check it out! Posts include this one and many more! “Ethnic Identity and Genomics Research: Toward Creating Culturally Sensitive Policies and Practices” …
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    When employer “wellness programs” incentivize employees to use , consider what goes to , what to or , & what does employee have about any of this.

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    Looking forward to joining this awesome line-up of speakers at ‘s conference & talking about ‘s, ‘s & my work. Thx to , & for organizing!

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    It’s not every day that a serious conference on discusses Brad Pitt in a bath leaving behind sperm that later impregnates a woman and the legal challenges that emerge. Well done – you managed to get everyone’s attention 🙂

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    Anguishing story told with elegance and grace. We are all utterly unprepared for generations of secrets unearthed by 26 million ++ kits sold to date.

    You can hear a pin drop in the auditorium as Kif Augustine tells a very personal tale about how reveals a story of rape and a lost half sister. Secrets, lies, ancestry, DNA, and Mormon Orthodoxy in 1959 Utah.
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    “Civilized societies are nearby, believe it or not!” explains how when is implemented in Canada, it means the government pays for it. (We are all v jealous about your developed country to the north, Vardit)

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    Jonathan Kahn ⁦⁩ ⁦⁩ discusses the fall and rise of race in genetic medicine, its science and politics. ⁦⁩

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    Yes! And we should continue to strive to have racial and ethnic representation to ensure that genomic research and policy doesn’t continue to exacerbate racial disparities

    Terrific representation of women at ! Speakers: 14F, 6M Moderators: 4F, 2M…
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    Fascinating discussions today at the conference

    Are celebs and politicians who have cleaning crews come in when they leave a place, like Madonna, paranoid or prophetic? It’s only a matter of time until we’re dealing with “genetic paparazzi” says Liza Vertinsky.
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    Potential consequences are greater when editing germline compared with somatic cells, because its modification can allow for the generational transmission of altered genes. laying out priciplist bioethical concerns of

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    Health information should not be treated as property to protect individuals, says . Instead, we should continue to enhance existing regulatory and liability rules to safeguard individual privacy and data security.

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    There has been a relunctance by courts to recognize information as property, but that could change drastically when it comes to genetic data.

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    Sir Wm. Blackstone is always a hit on the big screen — from my talk today on why health data isn’t property .

    Major disconnect with the ideas of ways to convert health data into what we have traditionally considered property-like rights. ⁦⁩
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    FDA involvement with DTC tests hasn’t shut them down. Five have been approved, and FDA has been flexible in its approval pathway (4 de novo, 1 510(k)). – Catherine Sharkey @

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    Emily Qian of is a genetic counselor and is co-author on one of the blog posts in our symposium:

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    At the Ethics Conference on Consuming Genomics. There was a question about why patients decline participating in precision medicine research. Check out our paper on why patients decline genomic sequencing

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    Great turnout at DTC genomics conference today. Tour de force discussion of the issues facing the personal genomics industry and consumers today.

    With over 400 registrants ⁦⁩ is off to a great start. Follow that hashtag for our conference “Consuming Genetics: Ethical and Legal Considerations of New Technologies”
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    “Informed consent is a process” that should include: test’s purpose, possible results of the test, test’s limitations/consequences, confidentiality/privacy, risks of testing and familial implications, and voluntary participation.

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    The amazing ⁦⁩ closes out the conference by discussing the ethics of non-invasive prenatal testing (NIPT), it’s ethical challenges, and how whole genome NIPT may make “the fetus transparent.” ⁦⁩

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    .: what about DNA vigilantes who upload information to databases explicitly to help law enforcement? Natalie Ram: BAM I ALREADY WROTE THAT ARTICLE CHECK IT OUT. (forthcoming , mayyyybe here? )

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    23andMe does a pretty good job situating and contextualizing results, but APOE testing may have little benefit ⁦⁩

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    Is ⁦⁩ ‘s test for APOE associated with Alzheimer’s different ethically speaking from its other tests? ⁦⁩ ⁦⁩ discuss ⁦⁩

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    Ultrasound technology made the uterus transparent, so parents could see their child before it was born. In the future, could make the fetus itself transparent, so parents can see the whole genome. Many associated ethical challenges, both pre- and post-birth

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    Great talk by one of the authors at on the need for laws and regulations to protect the privacy rights of genetic testing consumers and assuage concerns about information

    The case opened our eyes to how law enforcement can use direct-to-consumer testing data. A recent article explores privacy and discrimination issues and loopholes in the era of direct-to-consumer genetic testing:
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    Johnathan on The Fall and Rise of Race in Genomics: – not a thing (2000) – a stepping stone to true targeting (2005) – useful to classify subpopulations (2011) – under-representation of ethnically diverse subpopulations are necessary for good data (2019)

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    When tests allow the breach of anonymity and privacy of relatives who don’t want to be known–including in cases of rape–what should we do? Answers aren’t easy. -Kif Augustine-Adams

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    Listening to the brilliant discuss the concept of non-directiveness in genetic counseling.

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    Grateful for the opportunity to participate in the Annual Conference – thanks Carmel Sachar & Cristine Hutchison-Jones for a great line-up & planning- learned a lot & left with many more ?s to consider

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    & : “The more jurisdictions that adopt a cautionary approach to their own regulations for genome editing (particularly heritable genome editing) the more likely negative world-wide consequences can be mitigated.”

    Check out this blog post by AMA Journal of Ethics legal editor, . Published as part of ‘s 2019 conference, “Consuming Genetics: Ethical and Legal Considerations of New Technologies.”
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    There’s no prospect of potentially suing because of the disclaimers and forced arbitration put into agreements by the company ⁦⁩

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    explains the ways employer wellness programs is only a “theoretical win-win.” Minimal results come at the cost at privacy, and all of which can also show up in insurace realms as well. (Ex: Life insurers also implementing wellness policies)

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    Although increasing access to predictive/actionable genetic tests could theoretically be beneficial, we should be cautious about using third-parties, like life insurers, to disseminate these tests to their consumers without greater regulatory protections.

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    . has examined for years whether we should own our genetic info. Three reactions: Lay: yeah, duh Lawyers: no, duh (see Moore v Regents of U of Cal) Clinicians/researchers: Good God No! Disaster! (Not live-tweeting b/c draft here: )

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     May 17

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    Property Conversion in Genetic Property Rights – who owns the rights? “Researchers need to be transparent and use adequate informed consent” – claims for generic conversion should not stifle research or create moral harms, suggests – at Wasserstein Hall

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    We’re so proud of our friend and Academic Fellowship alum ! ✨🕺🏻

    It’s official! Tenure and promotion to full professor!
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    Why is most insurance typically a state issue? FYI – Congress essentially “blessed” and preserved a state regulatory system of the insurance industry with passage of the McCarran-Ferguson Act of 1945. It makes it politically difficult to push this at federal level

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    DTC genetic testing customers lack legal protections. Genetic conversations might offer them some rights… ?

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    . takeaway: Wellness programs aren’t necessarily bad, but question is what data goes to consumers, what data to employers and insurers, and what can they do with it?

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    . takeaway: w/r/t liability, companies are essentially immune because of disclaimers & arbitration clauses; doctors may be on the hook.

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     May 17

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    Q by : What do we tell GCs/trainees when we get a DTC result that needs to be confirmed but insurance won’t pay for confirmation? Answer: not very clear, but might be liable if we do nothing. Yikes!

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    Major disconnect with the ideas of ways to convert health data into what we have traditionally considered property-like rights. ⁦⁩

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    Great point from about how to treat “control group” genetic data, from those without the indicative genetic information, in arguments for genetic ownership/remuneration arguments.

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    The story of a mom who contacts her (donor conceived) five-year-old’s grandmother — then gets threatened by a sperm bank

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    The ethical debate about anonymity is MOOT. There is no anonymity for sperm donors, nor are there any federal laws regarding anonymity of sperm donors. (Some states address medical information/disclosure but not anonymity)

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    Three observations: 1. Biomedical data/samples are governed by method of procurement 2. Contributors care about use 3. Specimens/data procured differently end up being used similarly (lots of mixing between academia & industry). ==>TENSION. – @

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    Rights to privacy or publicity – What will the courts decide? Well, it’s unclear because there are gaps in the existing laws. Liza Vertinsky also looking at the underlying implications of the choices of legal pathways

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    . is an active moderator! Asking excellent questions (including mine–how do we react to patients not ‘getting’ consent info?, and then ‘s on right not to be a genetic parent! Need to think on your feet w/ Nita around!)

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    Learning a lot today but among the most fascinating: ?

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    Wondering how panelists and fellow attendees feel about this lack of anonymity? and individuals conceived from egg or who want to know about their background never consented to anonymity of donors

    Anonymous sperm donation: not a thing anymore! testing has made it effectively impossible. –
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    Yeah that looks simple! Barbara Evans on what the regulatory pathway issupposed to look like and what makes it challenging in the world of genetics using charts from 2017 reports. And an ode to the “pink golden retriever” we all want

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    You’re welcome!

    Swag at : branded umbrellas. In Cambridge, where it’s been raining for a month. Brilliant – thank you! 😉
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    Barbara Evans: Peer-review is no longer the threshold for good science it once was – grant review is. But if research is not funded…those protections aren’t there

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     May 17

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    How well are companies doing in complying with the privacy principles they themselves signed on to? James Hazel talks about the work he and Chris Slobogin ⁦⁩ ⁦⁩ have done. ⁦⁩

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    Excellent talk by Barbara Evans expressing skepticism about a top down regulatory approach on biohacking (“If I want to turn my skin bright green who’s the FDA to tell me I can’t?), citing Lisa Ikemoto’s excellent DIY Bio Hacking article

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    Terrific representation of women at ! Speakers: 14F, 6M Moderators: 4F, 2M Nicely done, folks.

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    Panel takeaways: * DTC privacy policies are all over the place, and Best practices are a good way forward. * FDA is poised to take an advanced role as a regulator in the field. * We must differentiate between germline and somatic editing for regulation

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    Catherine Sharkey asks us to consider the FDA may play in managing the conceptual risk and regulatory model for DTC genetic testing especially given the complexities that AI, machine learning, and big data add to this industry

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    You can hear a pin drop in the auditorium as Kif Augustine tells a very personal tale about how reveals a story of rape and a lost half sister. Secrets, lies, ancestry, DNA, and Mormon Orthodoxy in 1959 Utah.

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    And what does diversity mean? What does it do? Among other things, drives $$$$ funding in the research cycle.

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    Health equity is due to structural and systemic racism in the field present from its beginnings. Seeking more diversity in the workforce will not solve this “health equity” issue. As Jonathan Khan notes, these d&i initiatives can be used to elide responsibility

    Jonathan Kahn: Geneticists need to recognize their responsibility in the case of underrepresentation of racial diversiy in genetic databases and research.
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    Natalie Ram at talks about familial investigations for law enforcement. For a short, recent piece w/ & Amy McGuire: . Longer ago and longer (by far) in :

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    Natalie Ram uses her baby bump as the ultimate scholarly “flex” in showing the involuntary and immutable nature of informational revelation for the children we produce. How do these elements make the forensic use of that information different?

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    Ooh interesting! Natalie Ram argues that the involuntariness of familial info getting into databases means the Third Party Doctrine [which sucks anyway] shouldn’t apply. (here’s her piece, DNA by the Entirety: )

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    providing a range of policy/legal choices about how to address new forms of noninvasive prenatal testing

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The Journey of Antibiotic Discovery

Posted in Allergy and Infectious Diseases, Antibiotic resistance, Artificial Intelligence Applications in Health Care, Artificial Intelligence in Health Care - Tools & Innovations, Biological Networks, Electronic Health Record, Genomics Pharmacy, Health Care System by Country, Health Economics and Outcomes Research, Health Law & Patient Safety, Healthcare Reform, Human Immune System in Health and in Disease, Infectious Disease & New Antibiotic Targets, Infectious Disease Immunodiagnostics, Metabolomics, Microbiologial genetics, Microbiology, microbiome, Nutrigenomics, Personal Health Applications: Tech Innovations serves HealhCare, Pharmacogenomics, Population Health Management, Population Health Management, Genetics & Pharmaceutical, Population Health Management, Nutrition and Phytochemistry, Proteomics, tagged , , , , , on May 19, 2019| Leave a Comment »

The Journey of Antibiotic Discovery

Reporter and Curator: Dr. Sudipta Saha, Ph.D.

 

The term ‘antibiotic’ was introduced by Selman Waksman as any small molecule, produced by a microbe, with antagonistic properties on the growth of other microbes. An antibiotic interferes with bacterial survival via a specific mode of action but more importantly, at therapeutic concentrations, it is sufficiently potent to be effective against infection and simultaneously presents minimal toxicity. Infectious diseases have been a challenge throughout the ages. From 1347 to 1350, approximately one-third of Europe’s population perished to Bubonic plague. Advances in sanitary and hygienic conditions sufficed to control further plague outbreaks. However, these persisted as a recurrent public health issue. Likewise, infectious diseases in general remained the leading cause of death up to the early 1900s. The mortality rate shrunk after the commercialization of antibiotics, which given their impact on the fate of mankind, were regarded as a ‘medical miracle’. Moreover, the non-therapeutic application of antibiotics has also greatly affected humanity, for instance those used as livestock growth promoters to increase food production after World War II.

 

Currently, more than 2 million North Americans acquire infections associated with antibiotic resistance every year, resulting in 23,000 deaths. In Europe, nearly 700 thousand cases of antibiotic-resistant infections directly develop into over 33,000 deaths yearly, with an estimated cost over €1.5 billion. Despite a 36% increase in human use of antibiotics from 2000 to 2010, approximately 20% of deaths worldwide are related to infectious diseases today. Future perspectives are no brighter, for instance, a government commissioned study in the United Kingdom estimated 10 million deaths per year from antibiotic resistant infections by 2050.

 

The increase in antibiotic-resistant bacteria, alongside the alarmingly low rate of newly approved antibiotics for clinical usage, we are on the verge of not having effective treatments for many common infectious diseases. Historically, antibiotic discovery has been crucial in outpacing resistance and success is closely related to systematic procedures – platforms – that have catalyzed the antibiotic golden age, namely the Waksman platform, followed by the platforms of semi-synthesis and fully synthetic antibiotics. Said platforms resulted in the major antibiotic classes: aminoglycosides, amphenicols, ansamycins, beta-lactams, lipopeptides, diaminopyrimidines, fosfomycins, imidazoles, macrolides, oxazolidinones, streptogramins, polymyxins, sulphonamides, glycopeptides, quinolones and tetracyclines.

 

The increase in drug-resistant pathogens is a consequence of multiple factors, including but not limited to high rates of antimicrobial prescriptions, antibiotic mismanagement in the form of self-medication or interruption of therapy, and large-scale antibiotic use as growth promotors in livestock farming. For example, 60% of the antibiotics sold to the USA food industry are also used as therapeutics in humans. To further complicate matters, it is estimated that $200 million is required for a molecule to reach commercialization, with the risk of antimicrobial resistance rapidly developing, crippling its clinical application, or on the opposing end, a new antibiotic might be so effective it is only used as a last resort therapeutic, thus not widely commercialized.

 

Besides a more efficient management of antibiotic use, there is a pressing need for new platforms capable of consistently and efficiently delivering new lead substances, which should attend their precursors impressively low rates of success, in today’s increasing drug resistance scenario. Antibiotic Discovery Platforms are aiming to screen large libraries, for instance the reservoir of untapped natural products, which is likely the next antibiotic ‘gold mine’. There is a void between phenotanypic screening (high-throughput) and omics-centered assays (high-information), where some mechanistic and molecular information complements antimicrobial activity, without the laborious and extensive application of various omics assays. The increasing need for antibiotics drives the relentless and continuous research on the foreground of antibiotic discovery. This is likely to expand our knowledge on the biological events underlying infectious diseases and, hopefully, result in better therapeutics that can swing the war on infectious diseases back in our favor.

 

During the genomics era came the target-based platform, mostly considered a failure due to limitations in translating drugs to the clinic. Therefore, cell-based platforms were re-instituted, and are still of the utmost importance in the fight against infectious diseases. Although the antibiotic pipeline is still lackluster, especially of new classes and novel mechanisms of action, in the post-genomic era, there is an increasingly large set of information available on microbial metabolism. The translation of such knowledge into novel platforms will hopefully result in the discovery of new and better therapeutics, which can sway the war on infectious diseases back in our favor.

 

References:

 

https://www.mdpi.com/2079-6382/8/2/45/htm

 

https://www.ncbi.nlm.nih.gov/pubmed/19515346

 

https://www.ajicjournal.org/article/S0196-6553(11)00184-2/fulltext

 

https://www.ncbi.nlm.nih.gov/pubmed/21700626

 

http://www.med.or.jp/english/journal/pdf/2009_02/103_108.pdf

 

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Unwanted DNA deletions by CRISPR gene editing technology

Posted in Biological Engineering, Biological Networks, Gene Regulation and Evolution, Cancer and Current Therapeutics, Cancer Genomics, Cancer Prevention: Research & Programs, Cell Biology, Clinical Genomics, DNA repair, Gene Regulation, Gene Regulation and Evolution, Gene Therapy & Gene Editing Development, Genetics & Innovations in Treatment, Genetics & Pharmaceutical, Genome Biology, Genomic Endocrinology, Genomic Testing: Methodology for Diagnosis, Genomics Pharmacy, Molecular Genetics & Pharmaceutical, mRNA Therapeutics, Personalized and Precision Medicine & Genomic Research, Uncategorized, tagged , , , , on July 22, 2018| Leave a Comment »

Reporter and Curator: Dr. Sudipta Saha, Ph.D.

 

Researchers have embraced CRISPR gene-editing as a method for altering genomes, but some have reported that unwanted DNA changes may slip by undetected. The tool can cause large DNA deletions and rearrangements near its target site on the genome. Such alterations can confuse the interpretation of experimental results and could complicate efforts to design therapies based on CRISPR. The finding is in line with previous results from not only CRISPR but also other gene-editing systems.

 

CRISPR -Cas9 gene editing relies on the Cas9 enzyme to cut DNA at a particular target site. The cell then attempts to reseal this break using its DNA repair mechanisms. These mechanisms do not always work perfectly, and sometimes segments of DNA will be deleted or rearranged, or unrelated bits of DNA will become incorporated into the chromosome.

 

Researchers often use CRISPR to generate small deletions in the hope of knocking out a gene’s function. But when examining CRISPR edits, researchers found large deletions (often several thousand nucleotides) and complicated rearrangements of DNA sequences in which previously distant DNA sequences were stitched together. Many researchers use a method for amplifying short snippets of DNA to test whether their edits have been made properly. But this approach might miss larger deletions and rearrangements.

 

These deletions and rearrangements occur only with gene-editing techniques that rely on DNA cutting and not with some other types of CRISPR modifications that avoid cutting DNA. Such as a modified CRISPR system to switch one nucleotide for another without cutting DNA and other systems use inactivated Cas9 fused to other enzymes to turn genes on or off, or to target RNA. Overall, these unwanted edits are a problem that deserves more attention, but this should not stop anyone from using CRISPR. Only when people use it, they need to do a more thorough analysis about the outcome.

 

References:

 

https://www.nature.com/articles/d41586-018-05736-3?utm_source=briefing-dy

 

https://www.ncbi.nlm.nih.gov/pubmed/28561021

 

https://www.ncbi.nlm.nih.gov/pubmed/30010673

 

https://www.ncbi.nlm.nih.gov/pubmed/24651067

 

https://www.ncbi.nlm.nih.gov/pubmed/25398350

 

https://www.ncbi.nlm.nih.gov/pubmed/24838573

 

https://www.ncbi.nlm.nih.gov/pubmed/25200087

 

https://www.ncbi.nlm.nih.gov/pubmed/25757625

 

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Acute Coronary Syndrome (ACS): Strategies in Anticoagulant Selection: Diagnostics Approaches – Genetic Testing Aids vs. Biomarkers (Troponin types and BNP)

Posted in Acute coronary syndrome, Acute Myocardial Infarction, Frontiers in Cardiology and Cardiovascular Disorders, Genetics & Innovations in Treatment, Genetics & Pharmaceutical, Genomic Testing: Methodology for Diagnosis, Genomics Pharmacy, Myocardial metabolism, Myocardial ischemia, myocardial perfusion, Myocardial adenine nucleotide metabolism, Origins of Cardiovascular Disease, Pharmacotherapy of Cardiovascular Disease on March 13, 2018| Leave a Comment »

Acute Coronary Syndrome (ACS): Strategies in Anticoagulant Selection: Diagnostics Approaches – Genetic Testing Aids vs. Biomarkers (Troponin types and BNP)

Curator: Aviva Lev-Ari, PhD, RN

UPDATED on 8/7/2018

Siemens’ high-sensitivity Troponin I (TnIH) assaysgot FDA clearance for use in diagnosing acute myocardial infarction. (Cardiovascular Business) The first high-sensitivity Troponin T test was cleared last year, as MedPage Today reported.

SOURCE

https://www.medpagetoday.com/cardiology/prevention/74423?xid=nl_mpt_cardiobreak2018-08-06&eun=g99985d0r&utm_source=Sailthru&utm_medium=email&utm_campaign=CardioBreak_080618&utm_term=SM%20CardioBreak%20Alert

UPDATED on 3/17/2018

An NT-proBNP <300 pg/ml strongly excludes the presence of acute HF.

J Am Coll Cardiol. 2018 Mar 20;71(11):1191-1200. doi: 10.1016/j.jacc.2018.01.021.

N-Terminal Pro-B-Type Natriuretic Peptide in the Emergency Department: The ICON-RELOADED Study

 

A breakthrough in emergence of

  • Genetic Testing Aids as a Personalized approach, genomics-based approach to selecting antiplatelet therapy, for reduction in ischemic and bleeding events, and
  • Biochemical Biomarker approaches for dosing anti-thrombotic drugs are presented here.

“This study fills in a part of the puzzle of genomic testing,” said Craig Beavers, PharmD, of the University of Kentucky in Lexington. “It shows we can use genomic information in clinical decision making. It was interesting that there appeared to be a change in prescribing based on genomics.”

SOURCE

https://www.medpagetoday.com/meetingcoverage/acc/71722?xid=nl_mpt_DHE_2018-03-13&eun=g99985d0r&pos=3&utm_source=Sailthru&utm_medium=email&utm_campaign=Daily%20Headlines%202018-03-13&utm_term=Daily%20Headlines%20-%20Active%20User%20-%20180%20days

At 12 months, 25.9% of patients receiving standard care had experienced the trial’s primary composite endpoint — cardiovascular death, non-fatal MI or stroke, and Bleeding Academic Research Consortium (BARC) 3-5 major bleeding — compared with 15.8% of patients receiving an anticoagulant drug on the basis of genetic testing (P<0.001), reported Diego Ardissino, MD, of Azienda Ospedaliero-Universitaria di Parma in Italy, and colleagues.

PHARMCLO is the first trial to combine clinical characteristics with genetic information to inform the choice of P2Y12 receptor antagonist in patients with ACS, Ardissino said in a presentation at the American College of Cardiology annual meeting. The study was simultaneously published in the Journal of the American College of Cardiology.

“Selecting treatment on the basis of genetic data in addition to considerations concerning the patients’ clinical characteristics may lead to a more personalized, and therefore more efficient, antiplatelet therapy, thus reducing both ischemic and bleeding risk,” he said. “PHARMCLO is the first step of a new approach that will see a shift in emphasis away from trying to discover ever-more potent anti-thrombotic drugs, and toward ensuring that the right therapy is given to each individual patient.”

However, PHARMCLO was halted after about a fourth of the intended population was recruited. The Ethics Committee of Modena (Italy) required the trial to be prematurely stopped because of a lack of in vitro diagnosis certification for the testing instruments. The original patients were still followed, Ardissino stated.

The authors enrolled 888 patients, and randomly assigned them to be tested for

  • three genes associated with resistance to clopidogrel (Plavix), and then were assigned a
  • treatment based on clinical data informed by the testing results.
  • Tested genes were ABCB1, 2C19*2 and 2C19*17 with the STQ3 system.
  • Another group was assigned to treatment without reference to genetic testing.
  • Standard of care treatment was with Clopidogrel, Ticagrelor (Brilinta), or Prasugrel (Effient).
  1. Clopidogrel was more frequently used in the standard arm (50.7% versus 43.3%), while
  2. Ticagrelor in the pharmacogenomic arm (42.6% versus 32.7%, P<0.05) and
  3. Prasugrel were used equally in both.

The primary endpoint hazard ratio was 0.58 versus the standard arm (95% CI 0.43-0.78, P<0.001).

Previous studies have shown Prasugrel and Ticagrelor to be superior to Clopidogrel at preventing ischemic events. However, prasugrel and ticagrelor, which are more potent, are also known to increase the risk of bleeding. The findings suggest that having more information about a specific patient’s likely response to clopidogrel can help doctors weigh this trade-off, Ardissino said.

 SOURCES

The STANDARD OF CARE in Diagnosis of Acute Coronary Syndrome (ACS) using BioMarkers in serum blood relays of values of Troponin types and BNP for dosing anti-thrombotic drugs.

The team at LPBI Group published the following articles on this topic:

A search into our Journal Archive for “Acute Coronary Syndrome” yielded 210 articles

https://pharmaceuticalintelligence.com/?s=Acute+Coronary+Syndrome

  1. High Sensitivity Troponin (hs cTn) Assays 

  • Previously undiscerned value of hs-troponin

Curators: Larry H. Bernstein, MD, FCAP and Aviva Lev-Ari, PhD, RN

https://pharmaceuticalintelligence.com/2016/06/18/previously-undiscerned-value-of-hs-troponin/

  • Recent Insights into the High Sensitivity Troponins for Acute Coronary Syndromes

Curator: Larry H Bernstein, MD, FCAP

https://pharmaceuticalintelligence.com/2014/09/08/recent-insights-into-the-high-sensitivity-troponins-for-acute-coronary-syndromes/

  • Dealing with the Use of the High Sensitivity Troponin (hs cTn) Assays: Preparing the United States for High-Sensitivity Cardiac Troponin Assays

Author and Curator: Larry H Bernstein, MD, FCAP and Author and Curator: Aviva Lev-Ari, PhD, RD

https://pharmaceuticalintelligence.com/2013/05/18/dealing-with-the-use-of-the-hs-ctn-assays/

  • Preparing the United States for High-Sensitivity Cardiac Troponin Assays

Curator: Larry H Bernstein, MD, FCAP

https://pharmaceuticalintelligence.com/2013/06/13/high-sensitivity-cardiac-troponin-assays/

 

2. BNP and proBNP

Brain natriuretic peptide (BNP), also known as B-type natriuretic peptide, is a hormone secreted by cardiomyocytes in the heart ventricles in response to stretching caused by increased ventricular blood volume, decrease in systemic vascular resistance and central venous pressure as well as an increase in natriuresis. The net effect of these peptides is a decrease in blood pressure due to the decrease in systemic vascular resistance and, thus, afterload. Additionally, the actions of both BNP and ANP result in a decrease in cardiac output due to an overall decrease in central venous pressure and preload as a result of the reduction in blood volume that follows natriuresis and diuresis.

SOURCE

Maisel A, Krishnaswamy P, Nowak R, McCord J, Hollander J, Duc P, Omland T, Storrow A, Abraham W, Wu A, Clopton P, Steg P, Westheim A, Knudsen C, Perez A, Kazanegra R, Herrmann H, McCullough P (2002). “Rapid measurement of B-type natriuretic peptide in the emergency diagnosis of heart failure“. N Engl J Med. 347 (3): 161–7. 

 

The team at LPBI Group published the following articles on this topic:

  • Effect of Coronary Atherosclerosis and Myocardial Ischemia on Plasma Levels of High-Sensitivity Troponin T and NT-proBNP in Patients With Stable Angina

https://pharmaceuticalintelligence.com/2016/02/17/effect-of-coronary-atherosclerosis-and-myocardial-ischemia-on-plasma-levels-of-high-sensitivity-troponin-t-and-nt-probnp-in-patients-with-stable-angina/

  • More on the Performance of High Sensitivity Troponin T and with Amino Terminal Pro BNP in Diabetes

Writer and Curator: Larry H. Bernstein, MD, FCAP

https://pharmaceuticalintelligence.com/2014/01/20/more-on-the-performance-of-high-sensitivity-troponin-t-and-with-amino-terminal-pro-bnp-in-diabetes/

  • Erythropoietin (EPO) and Intravenous Iron (Fe) as Therapeutics for Anemia in Severe and Resistant CHF: The Elevated N-terminal proBNP Biomarker

Co-Author of the FIRST Article: Larry H. Bernstein, MD, FCAP. Reviewer and Curator of the SECOND and of the THIRD Articles: Larry H. Bernstein, MD, FCAP and Article Architecture Curator: Aviva Lev-Ari, PhD, RN

https://pharmaceuticalintelligence.com/2013/12/10/epo-as-therapeutics-for-anemia-in-chf/

  • Highlights of LIVE Day 1: World Medical Innovation Forum – CARDIOVASCULAR • MAY 1-3, 2017  BOSTON, MA • UNITED STATES

Aviva Lev-Ari, PhD, RN

https://pharmaceuticalintelligence.com/2017/05/01/highlights-of-live-day-1-world-medical-innovation-forum-cardiovascular-%E2%80%A2-may-1-3-2017-boston-ma-%E2%80%A2-united-states/

 

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