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Archive for the ‘Personalized and Precision Medicine & Genomic Research’ Category

Real Time Conference Coverage: Advancing Precision Medicine Conference, Afternoon Session Track 1 October 3 2025

Reporter: Stephen J. Williams, PhD

Leaders in Pharmaceutical Business Intellegence will be covering this conference LIVE over X.com at

@pharma_BI

@StephenJWillia2

@AVIVA1950

@AdvancingPM

using the following meeting hashtags

#AdvancingPM #precisionmedicine #WINSYMPO2025

WIN SYMPOSIUM

1:50-4:05

SESSION 4

From Targets to Trials:
Translating Discovery into Impact

1:50-2:10

Beyond Checkpoint Inhibitors: Targeted Immunotherapeutic Approaches for the Management of Solid Tumors

Andrea Ferreira-Gonzalez
  • we need to turn these immuno-cold tumors into immuno ‘hot’ tumors so immunotherapy will be effective and recognize them
  • however each immunotherapies have their own toxicities
  • immunocheck points inhibitors: 50% of patients get very rough adverse events and have to stop therapy and give immunosuppressives
  • 60 yo female with urothelial carcinoma with chemo induced rash given pembrolizumab but got worse rash… had Steven Johnson Syndrome… fatal outcome from one cycle of PD-L1 inhibitor
  • so now we are giving these immune checkpoints earlier before even surgery… the overall survival better but there are certain personalized toxicities
  • up to 35% patients with cancer have chronic immuno related adverse events and dose limiting toxicities
  • 50% have low grade multiple toxicities (and they treat these AEs with steroids)
  • we have no biomarkers for these PD/PDL1 inhibitor adverse events

 

2:10-2:30

Implementing Molecular Profiling in Early Phase Clinical Trials: Precision from Bench to Bedside

Andrea Ferreira-Gonzalez
  • power of biomarkers: BRCA2 null women with ovarian cancer success with olaparib even though at time was not approved except the biomarker known
  • every week they discuss with internal tumor board and consult with Foundation Medicine; however a mutational panel is great but need to understand the underlying effect on tumor biology
  • there are a handful of tumor agnostic targeted agents: based on biomarkers
  • she thinks digital twins will be helpful in determining cohort selection for clinical trails
  • she would like multiomics to be performed on every patient but how would this be done, especially in the ecosystem of the USA
  • from attendee question to speaker panel (from Indai): they have been running tmolecular boards but problem is when new targets or fusion proteins become known without a priori knowledge of them and no combination know what to do?

 

:30-2:40

Q&A

Andrea Ferreira-Gonzalez
Andrea Ferreira-Gonzalez

2:40-3:20

Non- CME Session: Venture Philanthropy

Andrea Ferreira-Gonzalez

Eric Heil, MBAManaging PartnerMedical Excellence Capital

  • started a venture fund and then a 501(c) to give small grants
  • in venture philanthropy it is not traditional grant writing but more of a personal relationship; he says find other companies they have backed and ask them
  • all about networking
  • looked at 1400 deals but only invested in 13
  • back years ago his company biotech got ten million after 2009 from TAP but now it seems smaller bridge money
John Lehr, President & CEO, Parkinson's Foundation

John LehrPresident & CEOParkinson’s Foundation

  • runs venture philanthropy which is more like a mix of venture fund and granting agency
  • most run a for profit venture but mix model with 501c to fund small grants
Dr. Blaine Robinson

Dr. Blaine Robinson, PhDVice President of the Therapy Acceleration Program (TAP)Blood Cancer United

  • runs Blood Cancer United that offers grants for blood based research
  • they run three pillars: venture biotech funding, clinical trial funding, and academic research but most they take equity in biotechs
  • so venture philanthropy is more of equity investing and using those funds to fund younger companies like bridge between first round and series C
  • Blood Cancer United looking for million and above investment “first in class’; was early with Kite and UPenn (where are they now… are they still with them?)

3:20-4:10

eNSCLC Testing

Andrea Ferreira-Gonzalez
  • lung cancer has seemed to be ahead with respect to biomarkers and precision therapies
  • at least with NCCN guidelines they are up to 14 therapeutic biomarkers not diagnostic biomarkers so very ahead on the clinical decision making on actionable mutations for lung cancer
  • so most of the testing is genomic mutational spectrum for oncogenic drivers
  • there are three protein based biomarkers: Met, PDL1,
  • FISH is still used for some fusions
  • NGS is more sensitive test but takes 2-4 weeks
  • the number of  detected EGFR variants are increasing so it is affecting the drug specificity
  • recently NRG1 fusions have been approved as a heregulin HER3 biomarker;
  • 15% which were detected as negative for fusions the patients actually responded because fusions were hard to detect; many false positives
  • 76% did not meet MET eligbility but only 13% were high enough for MET marker but was enough for FDA approval
  • some drugs beneficial for mutated version and some good for over expressed like MET or HER2 but where the mutation or exon skipping is important for therapy choice
  • we need better biobanking because we need more tissue; we loose more tissue during sectioning and not splitting blocks into two (one for diagnostic one for therapeutic)
  • liquid biopsy will find some mutations but other ones not very sensitivity in liquid biopsy like MET mutations (mutations may be assay specific)
  • some muts in bone marrow may just be in aging progenitor cells and sometimes in oncogene like BRAF but not cancer but dlonal homatopoesis (increased risk for myeloproliferative diseases but not solid tumors like melanoma)
  • clonal homatopoesis actually common so watch out when just relying on liquid biopsy

 

 

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Conference Coverage 2025 Advancing Precision Medicine Conference, Philadelphia PA October 3-4 2025

Reporter: Stephen J. Williams, PhD

The Annual Advanced Precision Medicine Conference will be held at the Pennsylvania Convention Center October 3-4 2025 in Philadelphia PA.   Advancing Precision Medicine is an organization dedicated to provide education and discourse among medical professionals to advance the field of precision therapeutics and diagnostics in cancer, cardiovascular, and other diseases.  The Annual symposium is held in Philadelphia.

The event will consist of two parallel tracks composed of keynote addresses, panel discussions and fireside chats which will encourage audience participation. Over the course of the two-day event leaders from industry, healthcare, regulatory bodies, academia and other pertinent stakeholders will share an intriguing and broad scope of content.

This event will consist of three immersive tracks, each crafted to explore the multifaceted dimensions of precision medicine. Delve into Precision Oncology, where groundbreaking advancements are reshaping the landscape of cancer diagnosis and treatment. Traverse the boundaries of Precision Medicine Outside of Oncology, as we probe into the intricate interplay of genetics, lifestyle, and environment across a spectrum of diseases and conditions including rare disease, cardiology, ophthalmology, and neurodegenerative disease. Immerse yourself in AI for Precision Medicine, where cutting-edge technologies are revolutionizing diagnostics, therapeutics, and patient care. Additionally, explore the emerging frontiers of Spatial Biology and Mult-Omics, where integrated approaches are unraveling the complexities of biological systems with unprecedented depth and precision.

https://www.advancingprecisionmedicine.com/ 

Leaders in Pharmaceutical Business Intellegence will be covering this conference LIVE over X.com at

@pharma_BI

@StephenJWillia2

@AVIVA1950

@AdvancingPM

using the following meeting hashtags

#AdvancingPM #precisionmedicine #WINSYMPO2025

APM is a mission-driven team dedicated to advancing clinical practice through education in precision medicine, oncology, and pathology. Our expert-led programs bring together clinicians, pathologists, pharmacists, nurses, and researchers from across the country.

What We Offer

In 2025, we’re proud to offer three specialized event series—each tailored to a different corner of the healthcare ecosystem:

Register here for the 2025 Conference: https://www.advancingprecisionmedicine.com/apm-home/apm-annual-conference-and-exhibition-in-philadelphia/ 

Where discovery meets application – and science transforms lives.

What’s New in 2025?

Four Specialized Tracks:

Track 1 – 2025 WIN Symposium: Progress and Challenges in Precision Oncology
Presented in partnership with Advancing Precision Medicine

As the official 2025 WIN Symposium, this dedicated track will explore the evolving landscape of precision oncology, highlighting both groundbreaking advances and the ongoing challenges of translating molecular insights into clinical impact. Curated by the WIN Consortium, the program will feature global leaders in cancer research, diagnostics, and therapeutic innovation—offering a comprehensive view of how precision medicine is reshaping oncology across tumor types and care settings.

Track 2 – Day 1 – Multi-Omics Integration, Day 2 – Precision Medicine Outside of Oncology

From genomics and transcriptomics to proteomics and metabolomics—this track highlights how multi-layered data is revolutionizing systems biology and clinical decision-making.

Diving into applications across cardiovascular, neurology, rare disease, infectious disease, and other therapeutic areas where precision tools are reshaping clinical practice.

 

Why Attend?

  • Cutting-Edge Innovation: Explore AI-powered solutions, multi-omics workflows, clinical trial design, and real-world implementation.
  • Renowned Speakers: Hear from global thought leaders in translational research, biotech innovation, and personalized therapeutics.
  • Dynamic Format: Keynotes, fireside chats, panels, and audience-interactive discussions across four concurrent tracks.
  • Unmatched Networking: Collaborate with scientists, startups, executives, regulators, and investors shaping tomorrow’s care.
  • Philadelphia Advantage: Centrally located near premier academic institutions, hospitals, incubators, and venture capital networks.

Who Should Attend?

Researchers, clinicians, data scientists, regulatory experts, startup founders, investors, tech transfer professionals, and healthcare leaders.

Let’s advance a future that is more predictive, preventive, and precise—together.

Keynote Speaker

  • William Kaelin, Jr, MD

    2019 Nobel Laureate
    Sidney Farber Professor, Harvard Medical School and Dana-Farber Cancer Institute

2019 Nobel Laureate

Sidney Farber Professor of Medicine at Harvard Medical School and Dana-Farber Cancer Institute 

Senior Physician-Scientist at Brigham and Women’s Hospital

Howard Hughes Medical Institute Investigator

William Kaelin is the Sidney Farber Professor of Medicine at Harvard Medical School and Dana-Farber Cancer Institute, Senior Physician-Scientist at Brigham and Women’s Hospital and Howard Hughes Medical Institute Investigator. He obtained his undergraduate and M.D. degrees from Duke University and completed his training in Internal Medicine at the Johns Hopkins Hospital, where he served as chief medical resident. He was a clinical fellow in Medical Oncology at the Dana-Farber Cancer Institute and later a postdoctoral fellow in David Livingston’s laboratory, during which time he was a McDonnell Scholar.

A Nobel Laureate, Dr. Kaelin received the 2019 Nobel Prize in Physiology or Medicine. He is a member of the National Academy of Sciences, the American Academy of Arts and Sciences, the National Academy of Medicine, the American Society of Clinical Investigation, and the American College of Physicians. He previously served on the National Cancer Institute Board of Scientific Advisors, the AACR Board of Trustees, and the Institute of Medicine National Cancer Policy Board. He is a recipient of the Paul Marks Prize for cancer research from the Memorial Sloan-Kettering Cancer Center; the Richard and Hinda Rosenthal Prize from the AACR; the Doris Duke Distinguished Clinical Scientist award; the 2010 Canada International Gairdner Award; ASCI’s Stanley J. Korsmeyer Award; the Scientific Grand Prix of the Foundation Lefoulon-Delalande; the Wiley Prize in Biomedical Sciences; the Steven C. Beering Award; the AACR Princess Takamatsu Award; the ASCO Science of Oncology Award; the Helis Award; the Albert Lasker Basic Medical Research Prize; the Massry Prize; the Harriet P. Dustan Award for Science as Related to Medicine from the American College of Physicians.

Dr. Kaelin’s research seeks to understand how, mechanistically, mutations affecting tumor-suppressor genes cause cancer. His laboratory is currently focused on studies of the VHL, RB-1, and p53 tumor suppressor genes. His long-term goal is to lay the foundation for new anticancer therapies based on the biochemical functions of such proteins. His work on the VHL protein helped to motivate the eventual successful clinical testing of VEGF inhibitors for the treatment of kidney cancer. Moreover, this line of investigation led to new insights into how cells sense and respond to changes in oxygen, and thus has implications for diseases beyond cancer, such as anemia, myocardial infarction, and stroke. His group also showed that leukemic transformation by mutant IDH was reversible, setting the stage for the development and approval of mutant IDH inhibitors, and discovered how thalidomide-like drugs kill myeloma cells by degrading two otherwise undruggable transcription factors,

2025 Steering Committee

Presentations

A diverse group of more than 90 key opinion leaders will convene to explore the critical forces shaping the future of healthcare. Representing a range of disciplines—including genomics, bioinformatics, clinical research, biopharma, technology, and investment—these experts will lead discussions on the latest advancements and challenges in precision medicine.

Topics will include the evolution of genomic sequencing technologies, ethical considerations in managing patient data, the integration of AI in diagnostics, and strategies for translating innovation into clinical practice. The inclusion of investors and strategic partners will also bring a vital perspective on funding models, commercialization pathways, and the acceleration of cutting-edge therapies. Together, these voices will offer a comprehensive view of the trends transforming personalized healthcare on a global scale.

Networking Opportunities

Our precision medicine event, hosting over 500 attendees, offers invaluable networking opportunities. Bringing together professionals, researchers, and industry leaders, the event facilitates engaging discussions, knowledge-sharing, and potential partnerships, driving advancements in precision medicine.

Why Exhibit

Exhibiting at the event provides a unique opportunity to showcase your cutting-edge solutions and connect with key stakeholders in the rapidly advancing field of personalized healthcare. As an exhibitor, you’ll gain visibility among industry leaders, researchers, and professionals, allowing you to forge strategic partnerships, highlight your contributions to precision medicine, and stay at the forefront of innovations shaping the future of healthcare. Don’t miss the chance to position your company as a leader in this dynamic and transformative space, driving meaningful collaborations and contributing to the advancement of precision medicine.

THE LOCATION

APM Annual Conference 2025

Pennsylvania Convention Center
1101 Arch Street
Philadelphia, PA 19107

Philadelphia

Registration Fees

Student – free
Academic/Government/Non-Profit  – free
Healthcare Providers – free 
Investors – free
Vendor/Technology Provider $999

Other Live Conference Proceedings can be found on this Online Open Access Journal at:

Press Coverage

including a list of previous conference at:

Part Two: List of BioTech Conferences 2013 to Present

including Live Coverage of the 2024 Advancing Precision Medicine conference at:

Real Time Coverage Advancing Precision Medicine Annual Conference, Philadelphia PA November 1,2 2024

 

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The Payload Revolution: Redefining the Future of Antibody-Drug Conjugates (ADCs)

Curator: Dr. Sudipta Saha, Ph. D.

 

Antibody-Drug Conjugates (ADCs) are at the forefront of targeted cancer therapy. While much attention has focused on antibody engineering and linker technology, the real breakthrough may lie in the payload—the cytotoxic compound delivered to tumor cells.

Historically, ADC payloads have relied on microtubule inhibitors like MMAE and MMAF, and topoisomerase I inhibitors such as SN-38 and Exatecan. These payloads are potent but limited in diversity, making differentiation difficult in a crowded therapeutic landscape.

The next wave of innovation introduces unconventional payloads with novel mechanisms:

  • ISACs (Immune-Stimulating ADCs) activate the immune system locally.
  • Protein degraders eliminate cancer-critical proteins without inhibiting them directly.
  • Urease-based and membrane-disrupting agents affect the tumor microenvironment.
  • RNA polymerase inhibitors and peptide-based payloads offer precision with reduced systemic toxicity.

This shift also places new demands on linker design. Linkers must now accommodate payloads with diverse chemical properties and release them selectively at the tumor site. A payload–linker mismatch could compromise both safety and efficacy.

Ultimately, the focus is shifting toward payloads not just as cytotoxins, but as precision-guided interventions. This evolution could redefine how ADCs are developed and positioned in treatment regimens, enabling breakthroughs in resistant and heterogeneous cancers. The ADC revolution is payload-powered—and the future belongs to those who can innovate at the molecular level.

References:

https://www.linkedin.com/posts/asmitasinghsharma_%F0%9D%97%A7%F0%9D%97%B5%F0%9D%97%B2-%F0%9D%97%99%F0%9D%98%82%F0%9D%98%81%F0%9D%98%82%F0%9D%97%BF%F0%9D%97%B2-activity-7336738434645901312-wfz1

https://www.nature.com/articles/s41573-022-00590-3

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10301933

https://www.cell.com/fulltext/S0092-8674(22)01299-7

https://ascopubs.org/doi/full/10.1200/JCO.22.02474

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257482

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Sleeping Threats: Immune System’s Watch on Dormant Cancer

Curator: Dr. Sudipta Saha, Ph. D.

 

The immune system’s role in regulating dormant cancer cells has been increasingly elucidated, revealing a complex interplay that influences metastasis and cancer recurrence. Dormant cells, which enter a non-proliferative state, can evade immune detection and remain quiescent for prolonged periods.


Mechanisms of immune evasion include down-regulation of antigen presentation and residence within immune-privileged niches such as bone marrow. Both innate and adaptive immunity, particularly CD8+ T cells and natural killer cells, are involved in maintaining dormancy and preventing metastatic outgrowth.


Micro-environmental factors that modulate immune surveillance and dormancy status have been identified. Changes in cytokine profiles and inflammation can disrupt dormancy, leading to cancer cell reactivation and metastasis.


Therapeutic approaches to sustain dormancy or eliminate dormant cells are under development. These include immune checkpoint inhibitors, cancer vaccines, and cytokine modulators aimed at enhancing immune recognition and clearance.


By targeting dormant cancer cells through immune modulation, it is anticipated that metastasis can be delayed or prevented, significantly improving long-term patient outcomes and reducing cancer mortality.

References:

https://www.cancer.gov/news-events/cancer-currents-blog/2025/metastasis-dormant-cancer-cells-immune-system

https://www.nature.com/articles/nrc2256

https://pubmed.ncbi.nlm.nih.gov/33681821/

https://pubmed.ncbi.nlm.nih.gov/33811127/

https://www.nature.com/articles/nrc3910

https://pubmed.ncbi.nlm.nih.gov/27015306

 

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Cancer Surgery Rethought: Immunotherapy Takes the Lead

Curator: Dr. Sudipta Saha, Ph.D.

In a recent phase 2 study published in The New England Journal of Medicine, the efficacy of nonoperative management was assessed in patients with mismatch repair–deficient (dMMR) solid tumors. Instead of undergoing curative-intent surgery, patients with stage I to III dMMR tumors were administered immune checkpoint inhibitors.

The study was conducted across two cohorts involving 117 patients. After two years of follow-up, a recurrence-free survival rate of 92% (95% CI, 86 to 99) was achieved. It was found that complete clinical responses could be maintained without surgical intervention, and substantial preservation of organ function was observed.

The avoidance of surgery was associated with fewer treatment-related complications and a significant improvement in patients’ quality of life. It has been emphasized that dMMR tumors, being highly immunogenic, respond exceptionally well to immune checkpoint blockade, thereby offering a viable alternative to conventional surgery-based treatment plans.

While the study’s findings have been considered ground breaking, long-term data have been recommended to fully validate this approach. Future studies are expected to refine patient selection criteria and monitoring strategies to ensure sustained outcomes.

Overall, a potential shift in the standard of care for patients with early-stage dMMR tumors has been proposed, highlighting how personalized immunotherapy can redefine oncological practice.

References

https://www.nejm.org/doi/full/10.1056/NEJMoa2404512

https://pubmed.ncbi.nlm.nih.gov/28734759

https://pubmed.ncbi.nlm.nih.gov/26028255

https://www.mdpi.com/2072-6694/12/9/2679

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Shaping the Future: The Rise of Structural Nanomedicine

Curator: Dr. Sudipta Saha, Ph.D.

In their 2025 review, Mirkin, Mrksich, and Artzi describe how the field of structural nanomedicine is being transformed to revolutionize biomedical science. Therapeutic materials are now being designed with precise nanoscale architectures to optimize biological interactions, improve efficacy, and reduce side effects.

It is explained that, unlike traditional drug delivery methods, structural nanomedicine is centered on the engineering of form and function at the molecular level. Advances in DNA and RNA nanotechnology, self-assembling peptide systems, and engineered nanoparticles have been utilized to create customizable platforms capable of navigating complex biological environments. These structures are being programmed to respond to specific physiological triggers, thereby enabling targeted delivery and controlled release.

A strong emphasis is placed on how rational design principles—borrowed from materials science, chemistry, and bioengineering—are driving innovation. Examples are presented where precisely constructed nanostructures have been shown to outperform conventional therapies in cancer treatment, immunomodulation, and regenerative medicine.

Attention is drawn to the challenges that must still be addressed, including the scalability of manufacturing, regulatory barriers, and the need for deeper insights into nano-bio interactions at the systems level. It is argued that interdisciplinary collaboration will be required for the successful translation of structural nanomedicine from laboratory research to clinical application.

Ultimately, structural nanomedicine is portrayed as a paradigm shift—where passive carrier systems are being replaced by dynamic, functional architectures that actively engage in therapeutic processes. Optimism is expressed that through continued technological convergence, a new generation of precision therapies tailored to individual patients will be realized.

This review is recommended for researchers, clinicians, and industry professionals seeking to remain informed about future directions in biomedical innovation.

References

https://www.nature.com/articles/s44222-025-00306-5

https://www.nature.com/articles/s41551-019-0351-1

https://www.nature.com/articles/382607a0

https://pubs.acs.org/doi/10.1021/acsnano.3c06564

https://www.nature.com/articles/s41565-023-01447-7

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Resitu Medical Sets Stage for Breakthrough in Breast Tumour Removal

Curator: Dr. Sudipta Saha, Ph.D.

Resitu Medical, a Swedish company specializing in minimally invasive breast tumour removal, has announced the appointment of Stefan Sowa as its new Chief Executive Officer. Strategic leadership is being strengthened as the company moves towards commercialization in both European and American markets.

A novel electrosurgical device, designed to excise entire breast lesions during the biopsy procedure, is being developed by Resitu. The device is intended to minimize the need for open surgery by allowing intact removal of tissue with minimal bleeding, guided by real-time ultrasound imaging. Preclinical studies are currently being conducted, and preparations for FDA clearance and CE marking are underway.

ISO 13485 certification for the design, development, manufacturing, and sales of the device has been successfully obtained. Investment has been secured from major shareholders, including Novoaim, ALMI Invest Stockholm, and STOAF, to support the finalization of the product and the initiation of serial production for clinical trials.

Through the use of its technology, false negatives are hoped to be reduced, while patient outcomes and diagnostic accuracy are expected to be significantly improved. The burden on healthcare systems may also be alleviated by minimizing the need for recalls and secondary biopsies.

Positive attention has been garnered at major medical conferences, with workshops hosted at events such as the Uppsala Breast Meeting, and favourable media coverage has been achieved. With Stefan Sowa at the helm, Resitu’s innovative device is poised to transform breast cancer management practices globally.

References

https://news.cision.com/let-em-know-ab/r/resitu-strengthens-c-suite-with-new-ceo-as-it-prepares-for-commercialization-of-its-breast-tumor-rem,c4140424

https://www.resitu.com

https://www.who.int/news-room/fact-sheets/detail/breast-cancer

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Unlocking the Secrets of Longevity: A 117-Year-Old Woman’s Genes Defied Aging

Curator: Dr. Sudipta Saha, Ph.D.

A recent study led by the University of Barcelona has shed light on the genetic factors contributing to exceptional human longevity. The research focused on Maria Branyas Morera, who was recognized as the world’s oldest living person until her passing at age 117 in August 2024. The findings revealed that her unique genetic makeup allowed her cells to function as if they were 17 years younger, and her gut microbiota resembled that of an infant.

Branyas Morera attributed her remarkable lifespan to “luck and good genetics.” Beyond her genetic advantages, she maintained a healthy lifestyle characterized by a Mediterranean diet, regular physical activity, and strong family bonds. These factors likely contributed to her prolonged cognitive clarity and minimal health issues, primarily limited to joint pain and hearing loss.

This study adds to a growing body of research exploring the genetic foundations of longevity. For instance, the Okinawa Centenarian Study has examined over 600 centenarians from Okinawa, Japan, uncovering genetic markers associated with extended lifespan and reduced incidence of age-related diseases.

Similarly, the New England Centenarian Study has identified specific genetic variations linked to longevity, providing insights into the biological mechanisms that allow some individuals to live significantly longer than average.

Researchers hope that understanding these genetic factors can inform the development of treatments for age-related diseases, challenging the notion that aging and illness are inextricably linked. By studying individuals like Branyas Morera, scientists aim to uncover strategies to promote healthier aging across the broader population.

However, it’s important to note that while genetics play a crucial role in exceptional longevity, lifestyle factors such as diet, exercise, and social connections also significantly impact overall health and lifespan. The interplay between genetic predisposition and environmental influences continues to be a critical area of research in understanding human aging.

References

https://www.theguardian.com/world/2025/mar/13/supercentenarian-aging-genes-study?CMP=oth_b-aplnews_d-1

https://www.theguardian.com/science/2024/oct/13/why-everything-you-think-about-living-to-100-might-be-wrong?utm_source=chatgpt.com

https://www.theguardian.com/commentisfree/2024/oct/13/good-news-everyone-we-appear-to-have-reached-peak-longevity?utm_source=chatgpt.com

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Real Time Coverage Morning Session on Precision Oncology: Advancing Precision Medicine Annual Conference, Philadelphia PA November 2 2024

Reporter: Stephen J. Williams, Ph.D.

9:20-9:50

How Can We Close the Clinical Practice Gaps in Precision Medicine?

Susanne Munksted, Diaceutics

Studies are showing that genetic tests are being ordered at a sufficient rate however it appears there are problems in interpretation and developing treatment plans based on omics testing results

 

  • 30 % of patients in past and now currently half of all patients are not being given the proper treatment based on genomic testing results (ASCO)
  • E.g. only 1.5% with NTRK fusions received a NTRK based therapy (this was > 4000 patients receiving wrong therapy)
  • A lung oncologist may only see one patient with NTRK fusion in three years

 

Precision Medicine Practice Gaps

48% of oncologist surveyed  agreed pathologist needs to be more informed and relevant in the decision making process with regard to tests needing to be ordered

95% said need to flip cost issues ; what does it cost not to get a test … i.e. what is the cost of the wrong therapy

We need a new commercialization model for therapeutic development for this new era of “n of one” patient

9:50-10:15

Implementation of a CLIA-based Reverse Phase Protein Array Assay for Precision Oncology Applications: Proteomics and Phosphoproteomics at the Bedside (CME Eligible)

Emanuel Petricoin, George Mason University

There are some tumor markers approved by FDA that cant just be measured by NGS and are correlated with a pathologic complete response

 

  • Many point mutations will have no actionable drug
  • Many alterations are post-genomic meaning there is a post translational component to many prognostic biomarkers
  • Prevalence of point mutation with no actionable mutation is a limit of NGS
  • It is important to look at phospho protein spectrum as a potential biomarker

 

Reverse phase protein proteomic analysis

  • Made into CLIA based array
  • They trained centers around the US on the technology and analysis
  • Basing proteomics or protein markers by traditional IHC requires much antibody validation so if the mass spectrometry field can catch up it would be very powerful
  • With multiple MRM.MS there is too low abundance of phosphoproteins to allow for good detection

 

They  conducted the I-SPY2 trial for breast cancer and determining if phosphoproteins could be a good biomarker panel

  • They found they could predict a HER2 response better than NGS
  • There were patients who were predicted HER2 negative that actually had an activated HER2 signaling pathway by proteomics so NGS must have had a series of false negatives
  • HER2 co phosphorylation predicts pathologic complete response and predicts therapy by herceptin
  • They found patients classified as HER2 negative by FISH were HER2 positive by proteomics and had HER2 activation

10:15-11:10

Liquid Biopsy MRD to Escalate or De-escalate Therapy (CME Eligible)

Adrian Lee

Adrian Lee, UPMC

Marija Balic, UPMC

Howard McLeod

Howard McLeod, Utah Tech University

Muhammed, Murtaza, University of Wisconsin-Madison

 

11:15-11:25  PRODUCT PRESENTATION  204A

SpaceIQ™ – Powering Next Generation Precision Therapeutics with AI-Driven Spatial Biomarkers

Dusty Majumdar, PredxBio 

Single Cell and Spatial Omics

 

  • Single cell transcriptomics technology have been scaled up very nicely over the past ten years
  • Spatial informatics field is lacking in innovations
  • Can get a terabyte worth of data from analysis of one slide

11:25-11:35  PRODUCT PRESENTATION  204C

10x Genomics

11:40-12:35

Transcriptomics and AI in Transforming Precision Diagnosis

Maher Albitar, Genomic Testing Cooperative

Transciptomica and AI:Transforming Precision diagnosis

-The Genomics Testing Coopererative at www.genomictestingcooperative.com

 

Advantages of transcriptomics

– mutation frequency and allele variant detection now at 80% (higher sensitivity in mutation detection)

 

– transcriptomics has good detection of chromosomal translocations

– great surrogate for IHC and detect splicing alterations

– can use AI to predict % of PDL1 in tumor cells versus immune cells

– they have developed a software UMAP (uniform manifold approximation and projection) to supervise cluster analysis

– the group has used AI to predict prognosis and survival using transcriptomics data

Marija Balic, UPMC

Andrew Pecora, Hackensack University Medical Center 

12:35-1:00

The Impact of Multi-Omics in the Context of the APOLLO-2 Moonshot Program (CME Eligible)

 

 

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Real Time Coverage Morning Session on Precision Oncology: Advancing Precision Medicine Annual Conference, Philadelphia PA November 1 2024

Reporter: Stephen J. Williams, Ph.D.

Notes from Precision Medicine for Rare Diseases 9:00AM – 10:50

Precision Medicine and markers Cure models vs disease models  Dr Ekker from UT MD Anderson

 

  • UT MD Anderson zebrafish disease model program now focusing more on figuring the mechanisms by which a disease model is reverted to normal upon CRISPR screens
  • Traditional drug development process long and expensive
  • 2nd in class only takes 4 years while 3rd in class drugs take only 1.5 years
  • Health-in-a-fish: using a CRE system to go from disease to normal
  • The theory is making a CRE or CURE avatar; taking a diseased zebrafish and reverse engineering the disease genome
  • He used transposon based CRE mutational mutants with protein trap and 3’ exon trap (transposon based mutagenesis)
  • He reverted the diseased gene by CRE
  • He feels that can scale up to using organoids to develop more cure based models

 

FDA Christine Nguyen MD regulatory perspective of framework of drug approval for rare diseases

  • 1 in 10 Amercians have rare diseases; 70% genetic and half are children
  • Due to Orphan Drug Act in 2023 half of novel drugs approved for rare diseases
  • CDER and FDA 550 unique drugs for over 1000 rare diseases
  • Clinical and surrogate validated endpoints are important for traditional approvals
  • For accelerated approval need predictive surrogate endpoint of clinical benefit
  • For accelerated approval needs completion of a confirmatory trials so FDA has new authority under FDORA; FDA can dictate trial milestones
  • Candidate surrogate endpoints: known to predict (validated) for traditional approval but reasonably likely to predict for accelerated approval
  • Does surrogate endpoint associated with a causal pathway?  Also important to understand the magnitude of benefit so surrogate should be quantitative not just qualitative
  • RDEA is a series of 3 public workshops at FY2027 to promote innovation and novel endpoints and guidance

 

Frank Sasinowski FDA regulatory flexibility beyond One Positive Adequate and Well Controlled Trial

  •  As we move to rare diseases we may only have one well controlled study so FDA feels we need new regulatory frameworks and guidelines especially for rare disease clinical trails especially with precision medicine
  • Accelerated approval does not mean your evidence is any less stringent that traditional approval (only difference is endpoint but quality of evidence the same)

 

  • Confirmatory evidence is a primary concern
  • In 2021 FDA coordinated with the two divisions CBER and CDER
  • Sometimes a primary endpoint shows positive benefit but secondary endpoints may not; FDA now feels that results from one well designed AWC gives confirmatory evidence
  • FDA can be flexible by taking in consideration the quantity and quality of confirmatory evidence and the totality of evidence
  • So pharmacology studies, natural history etc.  can be enough
  • For a drug like Lamzede for mannosidosis there were no positive endpoint studies or for ADA SCID disease there was other compelling evidence
  • The FDA does have flexibility when it comes to advanced precision medicines and ultr rare diseases

10:50 Do we Really Need Liquid Biopsy? A Panel Discussion on the Issues Hampering the full Adoption of Liquid Biopsy

  • In Mexico leading cancer is colorectal but only have the FIT test and noone except one organization who issupplying health access
  • Access to precision medicine is a concern:  the communication between the patient, who is pushing this more than healthcare, needs to be coordinated better with all stakeholders in care
  • We also need to educate many physicians even oncologists (like in Virginia) a better understanding of genetics and omics
  • FT3 consortium does testing to therapy (multistakeholder group comprised of patient advocacy groups); focus on amplifying global efforts to increase access; they are trying to make a roadmap to help access in other countries; when it comes to precision medicine it is usually the nurses that are aksing for training because they are usually the first responders for the patient’s questions
  • In rural areas just getting access to liquid biopsy is a concern and maybe satellite sites might be useful because the time to schedule is getting worse (like 3 or more months)
  •  A recent paper showed that liquid biopsy may actually perpetuate health disparities and not ameliorate them
  • BloodPAC: there are barriers to LB access and adoption so consortium felt that there were many areas that need to be addressed: financial, access, disparities, education
  • ctDNA to define variants was the past focus; there is growing realization that there are representatives populations in your R&D studies
  • Submission of data to BloodPac is easier to do for tissue not for liquid biopsy;  there is lack of harmonization across many of these databanks
  • Reimbursement: is a barrier to access for liquid biopsy
  • Illumina: challenge finding clinical utility for payers; FDA approval is not as hard; show improved outcomes for patients; Medicare is starting to approve some tests but the criteria bar keeps changing with payers; 
  • How do we leverage the on-market data to support performance of your diagnostic test or genomic panel

 

This event will be covered by the LPBI Group on Twitter.  Follow on

@Pharma_BI

@StephenJWillia2

@Aviva1950

@AdvancingPM

using the following meeting hashtags

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