Genomenon, Inc

Genomenon, Inc.: Making Genomic Evidence Actionable to Help Save and Improve Lives ?? Learn more about us today!

Meet the Genomenon team this week in LA at #ACMGMtg25 at Booth 723! We have a number of activities during the conference to meet with friends and partners, and look forward to sharing more about how we combine our AI and team of experts to deliver the best of genomic intelligence. Join us tomorrow for our Exhibit Theater, Platform and Poster presentations! See all the details on our event page and ways to schedule a meeting or demo: https://lnkd.in/gKTqAzRS

While Von Willebrand Disease (VWD) is often recognized as the most common inherited bleeding disorder, its severe form is rare and presents significant clinical challenges. Severe VWD, caused by pathogenic variants in the VWF gene, results in dangerous, uncontrolled bleeding, prolonged wound healing, and a heightened risk of life-threatening hemorrhages. Unlike milder cases, individuals with Type 3 VWD experience near-total absence of von Willebrand factor, making their condition as debilitating as severe hemophilia. Genetic insights play a critical role in diagnosing and managing severe VWD, yet variant interpretation remains complex due to the heterogeneity of bleeding disorders. This is why high-quality genomic data is essential to support clinicians and researchers in refining patient care strategies. As part of Bleeding Disorders Awareness Month, we are offering free access on the Mastermind? Genomic Intelligence Platform to expertly curated variant insights on 11 key bleeding disorder-associated genes, including: ?? F8, F9, F10, F11, F13A1, F13B, F2, F5, WAS, GATA1, and VWF. ?? These genes are associated with severe von Willebrand Disease, Hemophilia A & B, clotting factor deficiencies, and platelet & immune-related disorders. By making these insights freely available, we aim to support more precise variant interpretation, improved clinical decision-making, and better patient outcomes in rare bleeding disorders. This?offer remains available until the end of March: https://lnkd.in/gmAhrt-A #BleedingDisorders #VonWillebrandDisease #RareDisease #PrecisionDiagnostics #Genomenon #MastermindGIP #VWD #genomics

?? Exciting news for the genomics community and beyond! In the fall of 2024, GenomOncology and Genomenon, Inc announced a strategic partnership that's transforming germline variant classification and genomic reporting. By integrating Genomenon's expertly curated Mastermind Data into GenomOncology's knowledgebase, we've created a best-in-class germline clinical reporting solution with wide-ranging applications—from whole genome and exome analysis to targeted panels for hereditary cancer and rare disease. This powerful collaboration has streamlined the entire process from VCF to reporting, eliminating cumbersome manual workflows and dramatically reducing reporting time from days to minutes. See It In Action at #ACMG2025! ?? Visit us at the GenomOncology Booth #213 ?? Meet Dr. Matthew Stachowiak, VP of Product Innovation from GenomOncology, at the Genomenon, Inc. Booth #723 on March 20 from 2-3PM Pacific Don't miss this opportunity to discover how this partnership is advancing precision medicine and improving patient care. Looking forward to connecting with fellow genomics professionals this week! #Genomics #PrecisionMedicine #VariantClassification #RareDisease #VCF #ClinicalGenomics #ACMG2025 #GenomOncology #Genomenon

Love spicy food, or does even a little heat make you sweat? Your reaction to chili peppers is influenced by the TRPV1 gene, which encodes a receptor responsible for detecting heat and pain. This same receptor reacts to capsaicin—the compound that gives chili peppers their fiery kick! Interestingly, some people have genetic variations that make them less sensitive to spicy foods, meaning they can handle hotter dishes without breaking a sweat. Others feel the burn more intensely, making even mild spice unbearable! Are you a heat-seeker or a mild-flavors-only person? ??? Explore the TRPV1 gene in Mastermind, our genomic intelligence platform: https://lnkd.in/dwhH-DMz #GeneFactFriday #TRPV1 #Genomenon #Mastermind #InterestingFacts #Genetics

In our latest blog, we explore how genomic intelligence is transforming preclinical cancer research, enabling pharmaceutical and biotech companies to make data-driven decisions before a drug reaches clinical trials. The preclinical phase is where foundational choices are made—identifying high-value therapeutic targets, anticipating resistance mechanisms, and defining the right patient populations—all of which are critical to maximizing clinical success. At Genomenon, we provide cancer-based genomic intelligence services that help precision oncology teams refine their drug development strategies. By leveraging variant mapping, biomarker discovery, and real-world patient landscape analysis, we ensure that therapies are highly targeted and optimized for the right patient populations. Our Cancer-Based Services Support Preclinical Drug Development by: ? Identifying and validating high-value oncology drug targets ? Refining biomarker-driven drug design for enhanced efficacy ? Anticipating resistance mechanisms before clinical trials begin ? Defining clinically relevant patient populations for precision-guided interventions By integrating comprehensive genomic curation and real-world evidence, we help pharmaceutical teams reduce uncertainty in target selection, improve clinical trial efficiency, and mitigate risks associated with therapeutic resistance. As oncology drug development continues to evolve, incorporating genomic intelligence into preclinical research is no longer optional—it is essential for driving the next generation of precision cancer therapies. ?? Read the latest blog to explore how our cancer-based genomic services accelerate drug development: https://lnkd.in/d2vhP4XA #PrecisionOncology #CancerResearch #DrugDevelopment #PreclinicalResearch #GenomicIntelligence #Pharma #Biomarkers #Genomenon

Attending #ACMGMtg25 next week? As the landscape of genomic medicine evolves, exome sequencing is regaining traction in clinical practice. What are the key drivers behind this resurgence? Find out at GENOMiCS INSIGHTS DAY on March 20th, where leading experts, including Genomenon's Joe Jacher, MS, CGC, will share their insights on the latest advancements, cost-effectiveness, and real-world clinical applications of exome sequencing.

Hemophilia is a rare, inherited hematologic disorder marked by impaired blood clotting, resulting from pathogenic variants in key coagulation genes. The severity of the condition varies, but individuals with hemophilia face prolonged bleeding, spontaneous hemorrhages, and an increased risk of life-threatening complications, making timely diagnosis and intervention essential. This disorder is primarily driven by variants in the F8 and F9 genes, which encode critical clotting factors: ?? F8 (Factor VIII) – The underlying cause of Hemophilia A, the most prevalent form, characterized by a deficiency in Factor VIII. ?? F9 (Factor IX) – Responsible for Hemophilia B, also known as Christmas disease, which results from Factor IX deficiency. Advances in genetic research and precision medicine have transformed diagnostic capabilities, therapeutic strategies, and even the development of gene therapies. However, the complexity of variant interpretation continues to pose challenges, reinforcing the need for high-quality genomic insights to drive precision-based clinical decision-making. In recognition of Bleeding Disorders Awareness Month, we are offering free access on the Mastermind? Genomic Intelligence Platform to expertly curated variant insights on 11 bleeding disorder-associated genes, including: ?? F8, F9, F10, F11, F13A1, F13B, F2, F5, WAS, GATA1, and VWF. These genes play a crucial role in Hemophilia A & B, von Willebrand Disease, clotting factor deficiencies, and platelet & immune-related disorders. By expanding access to comprehensive, expertly curated genomic data, we aim to empower clinicians, researchers, and geneticists with the knowledge needed to advance diagnostics, therapeutic innovation, and precision medicine for bleeding disorders. This exclusive offer remains available through the end of March. Create your free account and unlock these insights today and help shape the future of genomics-driven hematology: https://lnkd.in/g7c_Fzs #BleedingDisorders #Hemophilia #PrecisionMedicine #GenomicInsights #GeneticTesting #RareDisease #Genomenon #MastermindGIP

"Challenges remain, particularly in regulatory adaptation, data accessibility, and system interoperability. Yet, breakthroughs like AI-driven protein modeling, biomarker identification, optimized drug candidate selection, and large-scale genomic analysis continue to push the boundaries of what is possible." - Genomenon's Founder and CSO, Mark J. Kiel MD PhD ?? Read more in the Roundtable in Pharma's Almanac

March marks Colorectal Cancer Awareness Month, an opportunity to spotlight the transformative impact of genomic intelligence in modern oncology. As precision medicine continues to advance, the ability to decode both germline and somatic genetic alterations is reshaping how colorectal cancer is diagnosed, risk-assessed, and treated. In our latest blog, we delve into the crucial interplay between hereditary and acquired genetic variants, illustrating how these insights drive earlier detection, refined diagnostics, and highly targeted therapeutic interventions. Pathogenic germline variants in genes such as APC and MUTYH enable the identification of individuals at elevated hereditary risk, allowing for proactive surveillance and preventive strategies. Meanwhile, somatic alterations in pivotal oncogenes like BRAF, KRAS, APC and NRAS inform precision treatment decisions, optimizing drug selection and minimizing therapeutic resistance. At Genomenon, we bridge the gap between raw genetic data and actionable clinical insights. Our Mastermind Genomic Search Engine provides unparalleled access to germline variant data, supporting hereditary cancer risk assessment, while our Cancer Knowledgebase (CKB) delivers meticulously curated somatic variant intelligence, empowering oncologists with the data needed to personalize treatment strategies. By integrating comprehensive germline and somatic variant insights, we equip researchers, clinicians, and pharmaceutical innovators with the precision tools needed to drive more accurate diagnostics, optimized treatment pathways, and ultimately, improved patient outcomes. ?? Read our latest blog to explore the critical role of genetics in revolutionizing colorectal cancer care: https://lnkd.in/gzBMZGsq #ColorectalCancerAwareness #PrecisionMedicine #GenomicIntelligence #CancerGenetics #OncologyInnovation #Genomenon #MastermindGIP