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8:00AM 11/13/2014 – Welcome from Gary Gottlieb, M.D., Partners HealthCare @10th Annual Personalized Medicine Conference at the Harvard Medical School, Boston

Posted in Academic Publishing, Conference Coverage with Social Media, Personalized and Precision Medicine & Genomic Research, Scientific & Biotech Conferences: Press Coverage, tagged Bioinformatics, Brigham and Women's Hospital, Children's Hospital of Philadelphia, computational genomics, curated database, Emory University School of Medicine, exons, Genomic Health, Health Information Technology, healthcare, healthIT, HIPAA, Information technology, laboratory medicine, Massachusetts General Hospital, Medical laboratory, Molecular Medicine, personalised medicine, Population Health Management, Public–private partnership, Whole genome sequencing on November 13, 2014| Leave a Comment »

8:00AM 11/13/2014 – 10th Annual Personalized Medicine Conference at the Harvard Medical School, Boston

REAL TIME Coverage of this Conference by Dr. Aviva Lev-Ari, PhD, RN – Director and Founder of LEADERS in PHARMACEUTICAL BUSINESS INTELLIGENCE, Boston http://pharmaceuticalintelligence.com

8:00 A.M. Welcome from Gary Gottlieb, M.D.

Opening Remarks:

Partners HealthCare is the largest healthcare organization in Massachusetts and whose founding members are Brigham and Women’s Hospital and Massachusetts General Hospital. Dr. Gottlieb has long been a supporter of personalized medicine and he will provide his vision on the role of genetics and genomics in healthcare across the many hospitals that are part of Partners HealthCare.

Opening Remarks and Introduction

Scott Weiss, M.D., M.S. @PartnersNews
Scientific Director, Partners HealthCare Personalized Medicine;
Associate Director, Channing Laboratory/
Professor of Medicine, Harvard Medical School @harvardmed

Welcome

Engine of innovations

lower cost – Accountable care
robust IT infrastructure on the Unified Medical Records
Lab Molecular Medicine and Biobanks
1. Lab Molecular medicine
2. Biobank
3. Translations Genomics: RNA Sequencing
4. Medical Records integration of coded diagnosis linked to Genomics

BIOBANKS – Samples and contact patients, return actionable procedures

LIFE STYLE SURVEY – supplements the medical record

GENOTYPING and SEQUENCING – less $50 per sequence available to researcher / investigators

RECRUITMENT – subject to biobank, own Consents – e-mail patient – consent online consenting — collects 16,000 patients per month – very successful Online Consent

LAB Molecular Medicine – CLIA — genomics test and clinical care – EGFR identified as a bio-marker to cancer in 3 month a test was available. Best curated medical exon databases Emory Genetics Lab (EMVClass) and CHOP (BioCreative and MitoMAP and MitoMASTER). Labs are renowned in pharmacogenomics and interpretability.

IT – GeneInsight – IT goal Clinicians empowered by a workflow geneticist assign cases, data entered into knowledge base, case history, GENEINSIGHT Lab — geneticists enter info in a codified way will trigger a report for the Geneticist – adding specific knowledge standardized report enters Medical Record. Available in many Clinics of Partners members.

Example: Management of Patient genetic profiles – Relationships built between the lab and the Clinician

Variety of Tools are in development

GenInsight Team –>> Pathology –>> Sunquest Relationship

Mass General (MGH) & Brigham Women’s (BWH) — Chart in EM will have the Genetic Profile of a Patients checking in

The Future

Genetic testing –>> other info (Pathology, Exams, Life Style Survey, Meds, Imaging) — Integrated Medical Record

Clinic of the Future-– >> Diagnostics – Genomics data and Variants integrated at the Clinician desk

Gary Gottlieb, M.D. @PartnersNews
President and CEO, Partners HealthCare

Translational Science

Partners 6,000 MDs, MGH – 200 years as Teaching Hospital of HMS, BWH – magnets in HealthCare

2001 – Center for Genomics was started at Partners, 2008 Genomics and Other Omis, Population Health, PM – Innovations at Partners.

Please Click on Link Video on 20 years of PartnersHealthcare

Video of Dr. Gottlieb at ECRI conference 2012

Why is personalized medicine important to Partners?

From Healthcare system to the Specific Human Conditions

Lab translate results to therapy
Biobank +50,000 specimens links to Medical Records of patients – relevant to Clinician, Genomics to Clinical Applications

Questions from the Podium

test results are not yet available online for patients
clinicians and liability – delays from Lab to decide a variant needs to be reclassified – alert is triggered. Lab needs time to accumulated knowledge before reporting a change in state.
Training Clinicians in above type of IT infrastructure: Labs around the Nations deal with VARIANT RECLASSIFICATION- physician education is a must, Clinicians have access to REFERENCE links.
All clinicians accessing this IT infrastructure — are trained. Most are not yet trained
Coordination within Countries and Across Nations — Platforms are Group specific – PARTNERS vs the US IT Infrastructure — Genomics access to EMR — from 20% to 70% Nationwide during the Years of the Obama Adm.
Shakeout in SW linking Genetic Labs to reach Gold Standard

Click to see Advanced Medical Education Partners Offers

– See more at: http://personalizedmedicine.partners.org/Education/Personalized-Medicine-Conference/Program.aspx#sthash.qGbGZXXf.dpuf

@PartnersNews

G Protein–Coupled Receptor and S-Nitrosylation in Cardiac Ischemia and Acute Coronary Syndrome

Posted in Cardiovascular Research, Cell Biology, Signaling & Cell Circuits, Disease Biology, Small Molecules in Development of Therapeutic Drugs, Frontiers in Cardiology and Cardiovascular Disorders, Metabolomics, Myocardial metabolism, Myocardial ischemia, myocardial perfusion, Myocardial adenine nucleotide metabolism, Nitric Oxide in Health and Disease, Population Health Management, Genetics & Pharmaceutical, Pre-Clinical Animal Model Development, Proteomics, Technology Transfer: Biotech and Pharmaceutical, tagged Acute coronary syndrome, Case Western Reserve University, congestive heart failure, convergence, Emory University School of Medicine, eNOS, GKR2, Heart Failure, nitric oxide, Nitric oxide synthase, NOS, post-ischemia injury, S-Nitrosylation Signaling, signaling pathways, Temple University School of Medicine on November 2, 2013| Leave a Comment »

G Protein–Coupled Receptor and S-Nitrosylation in Cardiac Ischemia

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

This recently published article delineates a role of G-protein-coupled receptor with S-nitrosylation in outcomes for acute coronary syndrome.

Convergence of G Protein–Coupled Receptor and S-Nitrosylation Signaling Determines the Outcome to Cardiac Ischemic Injury

Z. Maggie Huang1, Erhe Gao1, Fabio Vasconcelos Fonseca2,3, Hiroki Hayashi2,3, Xiying Shang1, Nicholas E. Hoffman1, J. Kurt Chuprun1, Xufan Tian4, Doug G. Tilley1, Muniswamy Madesh1, David J. Lefer5, Jonathan S. Stamler2,3,6, and Walter J. Koch1*

1 Center for Translational Medicine, Temple University School of Medicine, Philadelphia, PA

2 Institute for Transformative Molecular Medicine, Case Western Reserve Univ SOM, Cleveland, OH

3 Department of Medicine, Case Western Reserve University, Cleveland, OH

4 Department of Biochemistry, Thomas Jefferson University, Philadelphia, PA

5 Department Surgery, Div of Cardiothoracic Surgery, Emory University School of Medicine, Atlanta, GA

6 University Hospitals Harrington Discovery Institute, Cleveland, OH

Sci. Signal., 29 Oct 2013; 6(299), p. ra95 http:dx.doi.org/10.1126/scisignal.2004225

Abstract

Heart failure caused by ischemic heart disease is a leading cause of death in the developed world. Treatment is currently centered on regimens involving

G protein–coupled receptors (GPCRs) or nitric oxide (NO).

These regimens are thought to target distinct molecular pathways. We showed that

these pathways are interdependent and converge on the effector GRK2 (GPCR kinase 2) to regulate myocyte survival and function.

Ischemic injury coupled to

GPCR activation, including GPCR desensitization and myocyte loss,
required GRK2 activation,

and we found that cardioprotection mediated by inhibition of GRK2 depended on

endothelial nitric oxide synthase (eNOS) and
was associated with S-nitrosylation of GRK2.

Conversely, the cardioprotective effects of NO bioactivity were absent in a knock-in mouse with a form of GRK2 that cannot be S-nitrosylated. Because GRK2 and eNOS inhibit each other,

the balance of the activities of these enzymes in the myocardium determined the outcome to ischemic injury. Our findings suggest new insights into

the mechanism of action of classic drugs used to treat heart failure and
new therapeutic approaches to ischemic heart disease.

* Corresponding author. E-mail: walter.koch@temple.edu
Citation: Z. M. Huang, E. Gao, F. V. Fonseca, H. Hayashi, X. Shang, N. E. Hoffman, J. K. Chuprun, X. Tian, D. G. Tilley, M. Madesh, D. J. Lefer, J. S. Stamler, W. J. Koch, Convergence of G Protein–Coupled Receptor and S-Nitrosylation Signaling Determines the Outcome t

Editor’s Summary

Sci. Signal., 29 Oct 2013; 6(299), p. ra95 [DOI: 10.1126/scisignal.2004225]

NO More Heart Damage

Damage caused by the lack of oxygen and nutrients that occurs during myocardial ischemia can result in heart failure. A therapeutic strategy that helps to limit the effects of heart failure is to

increase signaling through G protein–coupled receptors (GPCRs)
by inhibiting GRK2 (GPCR kinase 2), a kinase that
- desensitizes GPCRs.

Another therapeutic strategy provides S-nitrosothiols, such as nitric oxide, which can be

added to proteins in a posttranslational modification called S-nitrosylation.

Huang et al. found that the ability of S-nitrosothiols to enhance cardiomyocyte survival after ischemic injury required the S-nitrosylation of GRK2, a modification that inhibits this kinase. Mice bearing a form of GRK2 that could not be S-nitrosylated

were more susceptible to cardiac damage after ischemia.

These results suggest that therapeutic strategies that promote the S-nitrosylation of GRK2 could be used to treat heart failure after myocardial ischemia.

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Blood markers for Alzheimer’s disease

Posted in Alzheimer's Disease, tagged Alzheimer, Alzheimer's Disease Neuroimaging Initiative, Alzheimers Disease, Blood test, cerebrospinal fluid, Emory University School of Medicine, protein, Washington University in St. Louis on September 5, 2012| 2 Comments »

Reported by Dr. Venkat S Karra, Ph.D.

A series of proteins in blood could form the basis of a test for Alzheimer’s disease in the future, say scientists in the US. They employed proteomics to identify proteins that were expressed at different levels in the blood of patients with Alzheimer’s disease or mild cognitiive impairment compared with those of healthy control patients. The results are described in Neurology.

Four plasma analytes remained after cross-checking against the findings of the Alzheimer’s Disease Neuroimaging Initiative (ADNI). They are apolipoprotein E, B-type natriuretic peptide, C-reactive protein and pancreatic polypeptide. Their levels also correlated with the cerebrospinal fluid contents of beta-amyloid proteins, which have been associated with the onset of Alzheimer’s disease. It is still too early to say for sure that a blood test based on these proteins would work. One of the next steps should be to confirm the link between the biomarkers in blood and cerebrospinal fluid.

source: spectroscopynow