Genomenon, Inc

How do people thrive thousands of meters above sea level, where every breath contains less oxygen? 🏔️🧬 Part of the answer may be written in EPAS1, a gene involved in the body’s response to low oxygen. Variants common in Tibetan high-altitude populations are associated with maintaining relatively lower hemoglobin levels, helping avoid the excessive red blood cell production that can make blood thicker at high elevations. A remarkable example of human adaptation, shaped over generations by life in an extreme environment. Learn more about EPAS1: https://bit.ly/3T1UDVn #GeneFactFriday #EPAS1

A treatment may be approved, but a limited label can still leave patients without access. For rare disease teams, the evidence needed to support label expansion may already exist in the literature. The challenge is turning that scattered evidence into something structured, traceable, and defensible. On July 30, join KT Curry, MS CGC, and Samuel Globus, PhD for a 30-minute conversation about how Genomenon helped transform published GLA variant and functional evidence into a regulatory evidence package that supported the addition of 15 variants to a commercial Fabry disease drug label. They will share how the team built the GLA variant landscape, evaluated functional evidence, and established a repeatable process that can support label expansion across rare disease programs. Join us to learn how structured variant evidence can support label expansion and help extend an approved therapy to more eligible patients. 📅 July 30, 2026 🕚 11:00 a.m. EDT Register here: https://bit.ly/4ytTGFC #RareDisease #FabryDisease #LabelExpansion #RegulatoryStrategy #DrugDevelopment #Genomics

Congratulations to our newest Core Value Champions, Cara Statz and Ana Gutalj! 🎉 🌟 Cara was recognized for the true grit she brings to every part of her work. Her deep CKB expertise, willingness to step in, and ability to support teammates, customers, and cross-functional partners make her an invaluable part of Genomenon. She consistently helps move important work forward with care, reliability, and a positive attitude. 🌟 Anna was recognized for her growth as a leader, her commitment to continuous improvement, and the confidence she brings to her team. Her thoughtful leadership, self-reflection, and “we can do it” energy inspire those around her and help raise the bar for everyone. Thank you both for the dedication, leadership, and positive impact you bring to Genomenon every day! #TeamGenomenon #CoreValues #Leadership #TeamRecognition

In rare disease, every variant matters. For ATP7A, our team identified 45 additional actionable variants beyond what is currently reflected in ClinVar, increasing the actionable evidence base by approximately 18%. That can mean more patients receiving a diagnosis, more complete disease understanding, and a clearer view of the population a rare disease program may be designed to serve. Proud of the care and persistence our curators bring to reviewing every variant. 👏 #RareDisease #Genomics #VariantCuration #ATP7A

AI tools are fast. But in rare disease, speed is not the same as completeness. Patient-level evidence that can inform trial design, drug development strategy, and variant interpretation often sits deep within full-text publications and supplemental datasets. At Bio-IT World, Joe Jacher, MS, CGC presented our poster featuring two rare disease use cases that demonstrate the value of systematic literature mining and expert curation. For PRKAG2 syndrome, expert curation identified 548 patients across 79 variables, including clinical presentation, genomic findings, laboratory metrics, and treatment data. That was 83% more patients than the highest estimate produced by ChatGPT, OpenEvidence, or openscilm.allen.ai. In a separate Fabry disease analysis, systematic literature curation substantially expanded the number of pathogenic and likely pathogenic GLA variants available in ClinVar. Together, these findings show how expert curation can uncover and structure evidence that may otherwise remain difficult to find and use. Take a look at the poster for the full findings: https://lnkd.in/eeH7FG6M #RareDisease #BioITWorld #RareDisease #AI #Genomics

We’re proud to share a new publication in Human Mutation, co-authored by Genomenon’s Mark J. Kiel MD PhD, and Stephanie Monteleone, alongside Ultragenyx and leading LC-FAOD experts. This work created a public LC-FAOD gene database that brings together variant, genotype, phenotype, biochemical, newborn screening, and clinical outcome data across six disease-associated genes. The database was developed using published medical literature reviewed through the Mastermind® Genomic Intelligence Platform, Ultragenyx-sponsored genetic testing data, and Ultragenyx clinical program data. Together, these sources helped turn dispersed LC-FAOD evidence into a structured resource for the rare disease community. Read the article: https://bit.ly/3STlumn #RareDisease #Genetics #VariantInterpretation #LCFAOD

When your lab encounters a variant in PTH1R, UBA1, VCP, or SMCHD1, your team needs an answer, not a three-hour literature search. VUS rates in rare disease remain stubbornly high. And every hour spent manually searching case reports, functional studies, and population data is an hour your team is not spending on the next case. For Q3, Mastermind CORE is opening free access to curated variant insights across 10 rare disease genes: PTH1R · UBA1 · MYO18B · SMCHD1 · VCP · HSPB1 · DNAJB2 · FHL1 · TOR1AIP1 · COL12A1 These genes are connected to rare neuromuscular, skeletal, myopathy, and neuropathy-related conditions where interpretation can be complex and the evidence is often difficult to find. Free access through September 30. No contract. No sales call. 👉 Link in comments! #RareDisease #GeneticTesting #VariantInterpretation #ClinicalGenomics

Did you know your “coffee personality” may have a genetic side? One gene involved is ADORA2A. While some genes affect how quickly your body breaks down caffeine, ADORA2A is more about how your brain responds to it. That extra-alert feeling after coffee? The jitters? The “why did I drink this at 3 p.m.” regret? ADORA2A may play a role. Variants in this gene have been linked to caffeine-related sleep disturbance and anxiety, which helps explain why the same cup of coffee can feel very different from one person to another. So the next time someone says, “Coffee doesn’t affect me,” or “One cup and I’m awake until tomorrow,” there may be more biology behind that than we think. Learn more about this gene: https://bit.ly/3QUgmh2 #GeneFactFriday #Genetics #Caffeine #Coffee #Genomics

Sometimes the evidence your program needs isn't missing. It's just buried across thousands of publications, disconnected from the questions your team is trying to answer. In this AML program, a traditional real-world data search identified only a few dozen patients with a rare genetic subtype. By systematically structuring evidence from the published literature, more than 1,000 matching patient records became available for analysis, providing a much richer understanding of disease characteristics, treatment response, and clinical outcomes. This is what happens when published evidence becomes usable evidence. Read Mark's post below for the full story. #PrecisionOncology #AML #RealWorldEvidence #Biomarkers

TK2d is a rare mitochondrial myopathy caused by pathogenic TK2 variants. Since its first description in 2001, its true prevalence has remained poorly defined, limiting clinical awareness, testing optimization, and newborn screening evaluation. At #ESHG2026, Amina Kozaric, our Senior Manager, Science, presented a poster developed in collaboration with UCB estimating the genetic birth prevalence of TK2d using a combined approach: clinical literature extracted through Mastermind, ACMG/AMP-based expert variant classification, and allele frequency analysis using gnomAD v4. The study estimated global genetic birth prevalence at 0.34 to 2.82 per million pregnancies, consistent with prior clinical prevalence data. It also identified marked population-level differences, with the highest prevalence observed in Admixed American populations, followed by African/African American, South Asian, and Finnish populations. For a disease where early intervention can change outcomes, evidence gaps in population data are not just academic. They are clinical. In case you missed us at ESHG, or were not able to attend, you can view the full poster here: https://bit.ly/4eM6QEH #ESHG #ESHG2026 #TK2d #MitochondrialDisease #RareDisease #Genomics #VariantInterpretation