Genomenon, Inc

To support awareness for various diseases, we’re proud to introduce a special initiative: complimentary access to curated variant data on select genes through the Mastermind® Genomic Intelligence Platform. Each month, researchers can freely access gene-specific variant insights connected to critical diseases and phenotypes, empowering breakthroughs in genetic research. In December we are focusing on rare diseases by providing free variant insights on 10 key causative genes.   These genes, including MAD2L2, PLA2G6, SMAD3, MECP2, C8ORF37, COL3A1, DBT, ACVRL1, FBN1 and BLM, are tied to conditions affecting patients worldwide such as Marfan syndrome, Fanconi anemia, Infantile neuroaxonal dystrophy, RETT syndrome, Ehlers-danlos syndrome, Bloom syndrome, Maple syrup urine disease, Loeys-Dietz syndrome, Bardet Biedl syndrome and Hereditary Hemorrhagic Telangiectasia. By providing this access we aim to empower researchers with the essential data needed to enhance the understanding and treatment of these rare disorders. The variant content will be available to all Mastermind users, and anyone can create a free Mastermind account here: https://lnkd.in/g7c_Fzs #genetics #genomics #raredisease #rarediseaseresearch #clinicalresearch #MastermindGIP The Marfan Foundation, FANCONI ANEMIA HOPE FOUNDATION, The INADcure Foundation, International Rett Syndrome Foundation, Ehlers-Danlos Syndrome Research Foundation, Loeys-Dietz Syndrome Foundation Canada, BARDET BIEDL SYNDROME FOUNDATION, Cure HHT

🧬 Did you know that the LRP5 gene holds the secret to both brittle bones and super-strong skeletons? This fascinating gene is a key player in regulating bone density. Some variants in LRP5 can cause osteoporosis-pseudoglioma syndrome, leading to fragile bones prone to fractures. But here’s the twist—other variants result in high bone mass syndrome, giving individuals incredibly dense, nearly “unbreakable” bones! The LRP5 gene showcases the incredible range of possibilities hidden within our DNA and the potential for targeted treatments in bone health research. 🔍 Read more about this gene on our genomic intelligence platform: https://lnkd.in/gy6yj8V3 #GeneFactFriday #LRP5 #BoneHealth #RareGenes #GeneticResearch #Genomics #Genomenon #MastermindGIP

Our CEO Mike Klein was able to join Kyle Mikson, CFA in a fireside chat during last week's 18th Annual Canaccord Genuity - Global Capital Markets Medtech, Diagnostics and Digital Health & Services Forum. We appreciated having the opportunity to share more on we're using AI and human expertise to understand the genomic drivers of disease and on our mission to curate the entire genome.

November is Epilepsy Awareness Month, a time to bring attention to this widespread yet often misunderstood brain disorder that affects 50 million people worldwide. To support epilepsy awareness and research, we’ve published a new blog exploring the genetic foundations of epilepsy and highlighting our free access offer to curated variant insights. Through our Mastermind® Genomic Intelligence Platform, we’re offering free access throughout November to expertly curated variant data for epilepsy-related genes, including ALDH7A1, AP3B2, KCNT1, PLPBP, SCN3A, DEPDC5, SCN8A, ARV1, and DENND5A. These genes are critical to understanding the genetic basis of epilepsy and advancing precision medicine. 📖 Read the blog to discover how curated genomic data is making a difference in epilepsy research and care: https://lnkd.in/gKPrzVNz 👉 Create your free Mastermind account today to access these insights: https://lnkd.in/g7c_Fzs Together, we can drive innovation in epilepsy research and care, working toward a brighter future for millions of patients and their families. #EpilepsyAwarenessMonth #EpilepsyResearch #Genomics #PrecisionMedicine #EpilepsyCare #Genomenon #MastermindGIP

Today we are recognizing our teams in Bosnia and Herzegovina as they celebrate their National Statehood Day! Members of the Genomenon US team had the privilege of traveling to Bosnia a couple of weeks ago and met Mark Handloff and the team at the U.S. Department of State in Sarajevo. May this Statehood Day be a source of inspiration and a testament to the resilience and determination of your nation.

❔ Did you know that the SLC6A4 gene, often called the “serotonin transporter gene,” plays a key role in regulating your mood? This gene codes for a protein that transports serotonin—a neurotransmitter responsible for feelings of happiness and well-being—back into nerve cells after it has been released. Variants in the SLC6A4 gene are associated with different responses to stress and risk for conditions like depression, anxiety, and obsessive-compulsive disorder (OCD). Specifically, there are two common variants, the long (L) and short (S) forms, that influence how efficiently serotonin is recycled.   People with the “short” variant may be more sensitive to stress, while the “long” variant is linked to better serotonin regulation. Those with two long (L) variants often show greater resilience to stress. Explore our Genomic Intelligence Platform, Mastermind, to learn more about this gene: https://lnkd.in/gWTdUV-e #SLC6A4 #SerotoninTransporterGene #Serotonin #StressResponse #Mastermind #Genomenon #GeneFactFriday #MastermindGIP

It was great to see so many attendees at our #AMPath24 workshop yesterday! Our Founder and CSO Mark J. Kiel MD PhD, and Sr. Clinical Analyst Cara Statz presented to a full house on how to use curated content to improve the detection of both somatic and germline variants for whole genome sequencing. If you're at AMP this week be sure to stop by booth #1233 to meet with our team! And if you don't have a CKB account, you can sign up for a free account today and see why it's the go to digital resource for interpreting even the most complex cancer genomic profiles: https://lnkd.in/gK638uwg

This November, we’re spotlighting lung, stomach, and pancreatic cancers—three of the most challenging cancers to diagnose and treat. In recognition of Cancer Awareness Month, we’ve published a new blog exploring these cancers, their genetic drivers, and our free access offer to curated genomic insights. Through our Cancer Knowledgebase (CKB), we’re offering free access through early January to curated insights on key genes like BRAF, EML4-ALK, CTNNB1, MAP2K1, PIK3CA, KIT, CDKN2A, and ATM. These genes are critical to understanding cancer progression, identifying actionable targets, and advancing precision oncology. 🧬 Don’t miss this opportunity—create your free CKB account today to explore the genetic landscape of these cancers: https://lnkd.in/gjyTduAb 📖 Read our blog to learn how these insights are driving innovation in cancer research and treatment: https://lnkd.in/g-Ez5q2z #genomics #genetics #blog #cancerresearch #lungcancer #stomachcancer #pancreaticcancer #BRAF #EMLA4ALK #CTNNB1 #MAP2K1 #PIK3CA #KITgene #CDKN2A #ATMgene #genomenon #ckb 👀 Lung Cancer Research Foundation, Lung Cancer Europe, Lung Cancer Canada, No Stomach For Cancer, Hope For Stomach Cancer, Debbie's Dream Foundation: Curing Stomach Cancer, Pancreatic Cancer Action Network, Pancreatic Cancer UK, Pancreatic Cancer Action, Marvin and Concetta Greenberg Pancreatic Cancer Institute at Fox Chase Cancer Center, Zetz Family Pancreatic Cancer Research Foundation, Pancreatic Cancer Europe, Pancreatic Cancer Association

We’re excited to announce the release of Genomenon’s Comprehensive Cardiology Gene Panel, featuring 143 consensus genes curated to advance research and clinical care in cardiovascular genomics. Our panel includes genes associated with arrhythmias, cardiomyopathies, and syndromic conditions with cardiovascular phenotypes, as well as ACMG secondary findings cardiology genes, providing actionable insights for at-risk individuals. 📖 Read our latest blog to discover how this gene panel is transforming cardiovascular care and advancing precision medicine: https://lnkd.in/gwebXjef 👉 Visit Mastermind to learn more or explore how Genomenon can support your work: https://lnkd.in/gQQfR_at Let’s shape the future of cardiovascular genomics together. #CardiovascularGenomics #PrecisionMedicine #Genomics #Cardiology #MastermindGIP #Genomenon

🗓 Register for our next webinar on December 5th with guest speakers from the Hartwig Medical Foundation and the Centers for Disease Control and Prevention on how they use Genomenon data to accelerate their operations. Learn how Mastermind and the Cancer Knowledgebase data empower clinical labs to scale their interpretation efforts more efficiently, improve accuracy and greatly reduce turnaround time. In this session, we’ll explore the latest and upcoming product offerings from Genomenon, highlighting the technological advancements. Reserve your spot today: https://lnkd.in/dKmwJgD5 #webinar #genomics #genetics #automation #