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Rare Diseases & Genetics
Orphan conditions, registries, gene testing, and family support networks.
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Latest in Rare Diseases & Genetics
RISE: Genetic Alliance Unveils a New Name and Identity for Its Global Rare Disease Genomics Network
7+ hour, 14+ min ago (131+ words) EIN Presswire There were 1,930 press releases posted in the last 24 hours and 487,780 in the last 365 days. RISE: Genetic Alliance Unveils a New Name and Identity for Its Global Rare Disease Genomics Network RISE — Rare Insights, Solutions, Empowerment — reflects a network…...
Scholar Rock Drug Wins First-in-Class Approval in Rare Neuromuscular Disease
4+ hour, 19+ min ago (308+ words) Scholar Rock’s Isembyld isn’t the only FDA-approved therapy for spinal muscular atrophy, but it is the first one that directly targets muscle tissue. Isembyld is the first commercial product for Scholar Rock, which is also evaluating the antibody in other…...
New multi-ancestry genetic score improves risk prediction for a common inherited heart muscle disease
1+ day, 6+ hour ago (601+ words) A multi-ancestry polygenic risk score improved HCM risk prediction in a diverse U.S. population of more than 258,000 people. People in the highest genetic risk group had a 2.11-fold higher risk of HCM......
Beyond the First-Line for ESR1-Mutated Disease
2+ day, 3+ hour ago (273+ words) An expert panel moderated by Sara Nunnery, MD, of Tennessee Oncology, convened to discuss how they choose therapy beyond the first-line setting for patients with ESR1-mutated disease. Dr. Nunnery was joined by Nan Chen, MD, of the University of Chicago;…...
Common Lupus Gene Variant Boosts Antiviral Defenses at the Cost of
1+ day, 20+ hour ago (778+ words) Why do genetic variants that raise the risk of autoimmune disease remain so common in the human population? Evolutionary logic would seem to argue that harmful versions of genes should slowly disappear, yet many of the inherited risk factors for…...
ROS1 Fusion Subtype Shapes Survival in Advanced Lung Cancer, Real-World
2+ day, 40+ min ago (599+ words) A rare but pivotal genetic alteration in lung cancer is once again in the spotlight, and this time the story is told through the lens of everyday clinical practice rather than the polished conditions of a randomized trial....
Gene Mutations After Surgery Predict Lung Cancer Recurrence Risk in Large
2+ day, 3+ hour ago (633+ words) A sweeping retrospective study of more than 1,600 Chinese patients with lung cancer has produced one of the most detailed maps to date of how genetic mutations shape a patient’s risk of recurrence after curative surgery....
Newly Discovered Trypsinogen Variants Drive Immune Responses in
2+ day, 3+ hour ago (654+ words) A team of researchers in China has uncovered a genetic clue that may help explain why some patients develop immunoglobulin G4-related disease, a chronic fibroinflammatory condition that can strike the pancreas, salivary glands, and other organs....
Scientists Build a Gene-Based Survival Model for Lung Cancer Using a Newly
2+ day, 5+ hour ago (686+ words) Lung adenocarcinoma, the most common form of lung cancer worldwide, remains one of the most difficult malignancies to predict and treat, and clinicians have long lacked molecular tools that reliably capture how an individual patient’s tumor will behave....
Rare Gene Variants May Explain Why Some Brains Are More Vulnerable to
2+ day, 6+ hour ago (730+ words) Why does a seemingly minor knock to the head leave one person with a headache that fades within days, while another suffers months of dizziness, fatigue, and memory problems? A new study suggests that part of the answer may be…...