Genomenon, Inc

October is Healthy Lung Month, and we want to take this opportunity to shed light on Primary Ciliary Dyskinesia (PCD), a rare genetic disorder that affects lung function. PCD affects the cilia – tiny hair-like structures in our airways and other parts of the body. These cilia play a vital role in clearing mucus and debris from the respiratory system, but in individuals with PCD, they don’t function properly. As a result, those affected often experience chronic respiratory infections, sinus issues, and hearing loss. PCD can be challenging to diagnose due to its rarity and overlapping symptoms with other respiratory conditions. Genetic testing plays a critical role in diagnosing Primary Ciliary Dyskinesia by detecting specific variants responsible for the disorder. This facilitates a precise diagnosis, enabling earlier interventions and allowing for more tailored patient care. Given the importance of genetic testing in achieving accurate diagnoses and personalized care, this Healthy Lung Month, we’re offering free access to variant insights on selected genes that impact these pulmonary conditions, including KCNK3, TET2, SERPINA1, RTEL1, ODAD3, ODAD2, ENG and CFTR. 🧬 The variant content will be available during October for all Mastermind users, and anyone can create a free Mastermind account here: https://lnkd.in/gvbTbjwD #PCD #PCDawareness #Genomenon #MastermindGIP #ClinicalResearch #PrimaryCiliaryDyskinesia #genomics

We are proud to celebrate our CEO, Mike Klein, recognized as Entrepreneur of the Year by the Michigan Venture Capital Association (MVCA), for his visionary leadership and relentless drive that continue to propel Genomenon forward in transforming the landscape of genomic research and making genomic information actionable. Congratulations Mike! 🎉

Did you know? The TP53 gene, often called the “guardian of the genome,” is essential for protecting our cells from becoming cancerous. It encodes the p53 protein, which plays a critical role in regulating the cell cycle, repairing DNA damage, and initiating apoptosis (programmed cell death) when necessary. This means that TP53 acts as a crucial checkpoint in preventing tumor formation. However, variants in the TP53 gene are among the most common alterations found in various cancers, including breast, lung, and colon cancers. These variants can lead to a loss of its tumor-suppressing abilities, allowing cancer cells to proliferate unchecked. Research on TP53 continues to be pivotal in the fight against cancer, making it a vital area of focus for scientists and healthcare professionals alike. 🔍 In Mastermind, there are 50.4K classified variants available for this gene:  https://lnkd.in/gBdTBH_A #TP53 #CancerResearch #Genetics #Genomics #TumorSuppression #PersonalizedMedicine #HealthcareInnovation #Genomenon #MastermindGIP

Attending #ICoNS2024? Connect with members of the Genomenon leadership team today at the International Consortium on Newborn Sequencing in New York! Meet with our CEO Mike Klein, COO Samuel Globus, PhD, VP of Marketing Colleen McMillen, and Founder and CSO, Mark J. Kiel MD PhD (not pictured) to learn about our mission to curate the human genome and how that will unleash the power of every genome with a thorough understanding of variant pathogenicity - and will also empower the development of precision medicines targeted at rare diseases.

Each month, we highlight a gene you can find curated on the Mastermind® Genomic Intelligence Platform. For October, we are featuring THBD! This gene encodes thrombomodulin, a crucial protein involved in regulating blood coagulation. Variants in THBD can lead to issues with clot formation and are associated with an increased risk of thrombosis, which has serious clinical implications, including venous thromboembolism and other blood clotting disorders. To support the research community, we have curated 26,000+ articles on THBD, establishing a comprehensive resource on its role in thrombosis and related conditions. This collection includes cutting-edge research, clinical data, and detailed variant insights. This curated content is available to all Mastermind users. Whether you’re a researcher delving into the intricacies of THBD or a clinician looking for the latest developments, our platform gives you access to an extensive collection of variant data and clinical insights. 🧬 Create a free Mastermind account to explore the platform this invaluable resource and gain a deeper understanding of THBD: https://lnkd.in/g7c_Fzs #THBD #Thrombosis #Genetics #Genomics #Genomenon #MastermindGIP #GeneticResearch #ClinicalResearch

In our latest blog, we dive into the critical importance of global health initiatives and how genomics is paving the way for more personalized and equitable healthcare solutions. From addressing genetic disorders to driving cutting-edge research, these initiatives are making a worldwide impact—and Genomenon is proud to be part of the effort. To mark Healthy Lung Month, we’re offering free access to curated variant insights on genes associated with pulmonary diseases, including KCNK3, TET2, SERPINA1, RTEL1, ODAD3, ODAD2, ENG, and CFTR. These insights are available through our Mastermind® Genomic Intelligence Platform, empowering researchers to make breakthroughs in understanding and treating respiratory conditions. 🔗 Read the full blog: https://lnkd.in/gacabMub 🧬 Sign up for a Mastermind account and unlock valuable variant insights without any cost: https://lnkd.in/g7c_Fzs #GenomicResearch #GlobalHealth #BlogPost #PulmonaryDiseases #MastermindGIP #raredisease #GeneAccess #HealthyLungMonth #Genomenon

Did you know that your ability to handle cold isn’t just about bundling up—it’s in your genes too! One gene, UCP1, plays a major role in how your body generates heat by activating brown fat, a special type of fat that burns energy to produce heat. When temperatures drop, the UCP1 protein helps your body convert fat into warmth, making a big difference in how you tolerate the cold! 🧊🔥 While there are other factors like environment and behavior, UCP1 is a key player in your body’s cold response! 🔍 Learn more about UCP1 gene on Mastermind: https://lnkd.in/gts4j7qZ

Latest News: Genomenon has released curated evidence of all the ACMG secondary findings in the Mastermind® Genomic Intelligence Platform! As the number of labs analyzing whole genome and whole exome tests rises, more variants appear on tests that may be outside the initial focus for the health care provider and patient. Variants in these genes can predispose individuals to severe medical conditions, often without initial symptoms. Reporting these findings is highly recommended by ACMG and can be crucial for patients. The curated data for ACMG secondary findings is available in the Mastermind Professional Edition today. 👉 Read the full announcement here: https://lnkd.in/gMyXcqty 💬 Learn from Genomenon's founder and CSO Mark J. Kiel MD PhD and Director of Product Quality Anna McGill, in our latest video about the impact of these findings here: https://lnkd.in/gZ5BG2Pu 🧬 Login to Mastermind and explore! Don't have a Mastermind login, join for free! https://lnkd.in/g7c_Fzs

At Genomenon, we are deeply committed to advancing the research and care that directly impacts those living with genetic diseases including pulmonary disorders. This Healthy Lung Month, we are offering free access to curated variant content on a subset of genes known to impact pulmonary diseases and related phenotypes from our Mastermind® Genomic Intelligence Platform. The variant insights provided are from the genes KCNK3, TET2, SERPINA1, RTEL1, ODAD3, ODAD2, ENG and CFTR. Our goal is to support the research community by making vital genomic data more accessible, providing a foundation for new insights and breakthroughs. The variant content will be available for all Mastermind users, and anyone can create a free Mastermind account here: https://lnkd.in/gzirC_3E We are committed to supporting your research and hope this resource proves valuable as you continue to explore and innovate in the field. #HealthyLungMonth #Genetics #PulmonaryDisorders #Genomics #DiseaseAwareness #ClinicalResearch #Genomenon #MastermindGIP

Michigan Tech Week is where high-growth entrepreneurs, investors, & leaders from both peninsulas connect, collaborate & innovate! Genomenon's CEO, Mike Klein, will be a panelist at Thursday's discussion on 'Saving Hearts & Lives, One Start-Up At A Time', where he'll share his insights & experience as a serial entrepreneur and tech leader! 🚀 #MITechWeek #InnovateMichigan