Jeffrey BAHAR’s Post

Detecting pathogenic variants saves lives. For rare disease and germline cancer, diagnosis yield ranges from 10-40%. Resolving variants of uncertain significance (VUS) can significantly increase the total diagnostic yield and impact lives, specially for NICU/PICU and pan cancer patients. We just have to keep pushing the boundaries on all fronts of clinical genomics. Insufficient phenotypic data, sensitivity of prediction algorithms, and the absence of validated functional variants, these are all important aspects in resolving VUS. Read how Horizon implementing ranges of algorithms and clinical databases in resolving pathogenicity of VUS:  https://lnkd.in/ddci_SDB #precisionmedicine #VUS #genetictesting #rarediseases

#MilestonesMonday: Mesothelioma, an aggressive tumor that affects the lining of the lungs or abdomen, belongs to the unfortunate list of cancers that are aggressive, difficult to treat and have poor outcomes. But a combination of lab and clinical work in CCR now holds promise for a cancer that has been intractable for many years. CCR researchers have identified gene signatures associated with mesothelioma prognosis that can help determine a patient’s response to therapy. They have also shown that it is possible to treat this rare cancer with adoptive T-cell therapy. National Cancer Institute (NCI), National Institutes of Health (NIH): Intramural Research Program (IRP) ➡ Read the full findings here: https://lnkd.in/e64RGz83 #NewPublication #CancerResearch #Health #Medicine #Innovation

Clinical genetics suffer substantially from classifying of variants that are inconclusive, termed as Variant of Uncertain Significance (VUS). This presents a significant challenge in diagnostic yield, counselling and led to a never ending diagnostic odyssey. VUS paradox limits the implementation of precision medicine. Read: https://lnkd.in/ddci_SDB #rarediseases #cancer #genomics #VUS

With nearly two decades of expertise and numerous publications, Agilent's CGH platform is widely embraced in cytogenetics labs for pre and post-natal, preimplantation, and cancer clinical research. This platform enables rapid and reliable identification of aneuploidies, microdeletions, microduplications, and other chromosomal aberrations throughout the genome. The 2-color approach of Agilent's CGH platform provides genuine comparative genomic data, offering unparalleled flexibility in format and content. Visit - https://rb.gy/9uc40e . . #AgilentCGHPlatform #MicroarrayInnovation #ChromosomalAberrations #GenomicData #CytogeneticsResearch #PrecisionGenomics #AneuploidyDetection #ComparativeGenomics #ClinicalResearchTools #AgilentTechAdvantage #LabResearchAdvancements #LabindiaTrustedProducts #India #labindia

🎥 Watch Now: Metabolomics in the Tohoku Medical Megabank and identification of biomarkers in gynecological cancer 🎥 A highlight of the biocrates virtual event on Population Health and Cancer featured the esteemed Assistant Professor Eiji Hishinuma from Tohoku University. In his presentation, he demonstrated how metabolomics is emerging as a crucial tool in identifying biomarkers for gynecological cancer, utilizing large-scale biobank data to drive clinical advancements. Ass. Prof. Hishinuma discusses the critical role of metabolomics in the search for diagnostic biomarkers for various diseases, with a special focus on gynecological cancer. Despite the potential of metabolomics, the path to clinical application has been challenging due to the lack of reliable reference values for biomarkers. The Tohoku Medical Megabank Organisation (ToMMo) has made significant strides in this area, establishing a metabolome analysis flow for large-scale samples and identifying metabolites related to aging and sex differences. 👉Watch full video:https://zurl.co/A99c #metabolomics #cancer #research #biomarker

💡 The latest insights into #genomic characterization and diagnostic strategies. 🔎 📈🎉 Congratulations to Dr. Adam C. Smith, PhD, FCCMG (University Health Network), Dr. José-Mario C. (University of Toronto) and the team for achieving 100 preprint downloads! 🧐 An insightful study showcases the challenges and advancements in detecting KMT2A gene rearrangements in #AML patients: https://lnkd.in/gkySV825 #AcuteLeukemia #Oncology

What is cancer genome sequencing? Cancer genome sequencing can be used to provide clinically relevant information in patients with rare or novel tumor types. Translating sequence information into a clinical treatment plan is highly complicated, requires experts of many different fields, and is not guaranteed to lead to an effective treatment plan. #AnaliticaSi #PGx #cancergenome #newjersey

This interesting review in CA provides practical guidance on how to interpret and integrate genomic information into routine cancer care. It is an overview on genomic biomarkers and their clinical relevance for therapeutic selection in patients with advanced solid tumors, describing assay technologies and sequencing processes, and offering practical advice on how to interpret and integrate molecular profiling into clinical decision making.

It's essential to consider the potential risks and benefits associated with innovative cancer treatments like CAR T-cell therapy. Recent research highlights the importance of thorough genetic analysis of modified immune cells before reintroducing them into patients to minimize the risk of secondary cancers. Clinicians could explore more precise DNA editing techniques, such as CRISPR-Cas9, to enhance the safety and effectiveness of these therapies. #CARTcell #CancerTreatment #SecondaryCancers #GeneticAnalysis #DNAModification BioMedHack.com is your leading source for the latest news, breakthroughs, and insights in medicine, biohacking, and alternative medicine. Our mission is to help you live healthier and longer by bringing you cutting-edge information and expert advice. Follow us on Facebook, Instagram, and X. Read more about this post here: https://lnkd.in/eCJUFsn8

Minimal residual disease ("MRD") tests look for disease remnants post treatment to inform on a patient’s prognosis. Telo Genomics' latest IMS abstract reports sensitivity 3X higher than current clinical practice, in finding circulating cancer cells.