<ѻýҕl>In BRCA Breast Cancer, Prophylactic Salpingo-Oophorectomy Tied to Better Survivalѻýҕl> PSO should be performed early, particularly for those with the BRCA1 variant, researchers say Oct 04, 2023
<ѻýҕl>FDA OKs Another Injectable for Rare Kidney Disorderѻýҕl> Nedosiran approved for patients ages 9 years and older with primary hyperoxaluria type 1 Oct 02, 2023
<ѻýҕl>New Option OK'd for Pompe Diseaseѻýҕl> FDA approves two-component therapy for patients not improving on enzyme replacement therapy Sep 29, 2023
<ѻýҕl>Huntington's Disease More Severe in Black Patients at Baselineѻýҕl> Outreach to families of minority patients may help identify genetic disorder Sep 14, 2023
<ѻýҕl>FDA Panel Reluctantly Backs Patisiran for ATTR Cardiomyopathyѻýҕl> Clinical meaningfulness is a different question, however Sep 13, 2023
<ѻýҕl>Some Sinus Relief for Cystic Fibrosis Patients on Trikaftaѻýҕl> Lung function, BMI, bacterial swabs, sweat chloride levels also improved Sep 11, 2023
<ѻýҕl>Rapid Genome Sequencing in Infants With Epilepsy Shows Immediate Benefitѻýҕl> Pilot study suggests early testing for seizures, regardless of treatment setting Sep 07, 2023
<ѻýҕl>Ultra-Rare Immune System Disease Gets First FDA-Approved Treatmentѻýҕl> Pozelimab reduced hospitalizations, albumin transfusions in CHAPLE disease patients Aug 18, 2023
<ѻýҕl>Gene Therapy Promising for Rare Jaundice Syndromeѻýҕl> Early-phase data suggest a dose that can keep bilirubin in check without hours of phototherapy Aug 16, 2023
<ѻýҕl>Cautious Return-to-Play Appears Safe for Athletes With Heart Conditionsѻýҕl> Shift away from blanket restrictions is not placing top-tier athletes at undue risk, data suggest Aug 14, 2023
<ѻýҕl>Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infantsѻýҕl> Whole genome scans took longer than a commercially available test, but not for most urgent cases Jul 11, 2023
<ѻýҕl>MS Disease Severity Tied to Genetic Variantѻýҕl> Findings mark a significant breakthrough in understanding how MS progresses Jun 28, 2023
<ѻýҕl>FDA Staff Weighs 'Alternative' Data on Retinoid for Rare Bone Disorderѻýҕl> Challenges of drug development in fibrodysplasia ossificans progressiva on full display Jun 27, 2023
<ѻýҕl>Bicuspid Aortic Valves and Aortopathy Cluster Among Close Relativesѻýҕl> Large study supports wider screening of family members of probands Jun 15, 2023
<ѻýҕl>High-Dose Leptin Reversed Severe Genetic Obesity in Two Patientsѻýҕl> Metreleptin doses several times higher than recommended brought weight down to near normal Jun 14, 2023
<ѻýҕl>Cautious Hope for Endovascular Aortic Tx in Connective Tissue Diseaseѻýҕl> Success observed in usually contraindicated Marfan, Loeys-Dietz syndromes Jun 14, 2023
<ѻýҕl>Full-On Reversal of Cardiac Amyloidosis Possible With Antibodiesѻýҕl> Future treatments don't have to be limited to slowing disease, case series suggests Jun 07, 2023
<ѻýҕl>Rare Skin Blistering Condition Gets First Drug Approvedѻýҕl> FDA's decision marks first approval for a redosable gene therapy May 19, 2023
<ѻýҕl>FDA 'Leans In' to Accelerated Approval for Rare Disease Drugsѻýҕl> CBER director says "moment is tender for gene therapy," sees opportunity to "salvage" treatments May 19, 2023
<ѻýҕl>Alzheimer's Progression Delayed by Rare Genetic Variantѻýҕl> Finding challenges previous assumptions about disease May 15, 2023
<ѻýҕl>B-Cell Stimulating Factors Tied to Lymphoma in Sjogren'sѻýҕl> Findings may bolster interest in BTK inhibitors for autoimmune diseases May 02, 2023
<ѻýҕl>FDA Extends Trikafta Approval to Even Younger Cystic Fibrosis Patientsѻýҕl> Patients ages 2 to 5 years now eligible for the triple therapy Apr 27, 2023
<ѻýҕl>Genomics Add Insight Into Worse Colorectal Cancer Outcomes in Black Patientsѻýҕl> Fewer actionable mutations, less likely to meet genomic criteria for immunotherapy Apr 19, 2023
<ѻýҕl>Many With Cancer Predisposition Diseases Unaware of Genetic Statusѻýҕl> Moreover, a significant proportion do not qualify for genetic screening under current guidelines Apr 19, 2023
<ѻýҕl>Oral Drug Improves Sunlight Tolerance in Genetic Photosensitivity Disordersѻýҕl> Dersimelagon significantly extended time to sun-related prodromal symptoms Apr 12, 2023
<ѻýҕl>Genomics Can Help Diagnose Rare Pediatric Diseasesѻýҕl> Large study found genomic analysis delivered answers for 41% of kids with undiagnosed disease Apr 12, 2023
<ѻýҕl>NIH's Genome Chief Says Genomics Is Evolving and Docs Need More Education on Itѻýҕl> National Human Genome Research Institute Director Eric Green sits down with ѻýҕl Apr 07, 2023
<ѻýҕl>A 'Double Whammy' for Gastric Cancer Riskѻýҕl> H. pylori infection and certain pathogenic variants linked with large excess risk Mar 29, 2023
<ѻýҕl>Common Enzyme Deficiency Linked With COVID Severityѻýҕl> Certain groups of men with G6PD deficiency had higher odds of severe illness Mar 29, 2023
<ѻýҕl>FDA Greenlights First Drug for Rare Immunodeficiency Diseaseѻýҕl> Activated PI3K-delta syndrome may have a new standard of care Mar 27, 2023
<ѻýҕl>Investigational ALS Drug May Have Clinical Benefit, FDA Staff Saysѻýҕl> Neurofilament light will be evaluated as a surrogate endpoint in tofersen review Mar 20, 2023
<ѻýҕl>Fetus Removed From Brain of 1-Year-Old Girlѻýҕl> Intracranial fetus-in-fetu identified in child with motor delay Mar 09, 2023
<ѻýҕl>Expanding ICD Codes May Aid Rare Disease Patients, Researchѻýҕl> NCATS explores how best to use diagnostic codes to move field forward Mar 02, 2023
<ѻýҕl>First Treatment Approved for Rare Neurodegenerative Disorderѻýҕl> Omaveloxolone gets FDA nod for Friedreich's ataxia Mar 01, 2023
<ѻýҕl>FDA OKs First Therapy for Alpha-Mannosidosisѻýҕl> Velmanase alfa approved for treating non-CNS manifestations of progressive, inherited disease Feb 17, 2023
<ѻýҕl>Rare Disease Non-Profit Shows Drug Development Savvyѻýҕl> FAST sold a drug candidate to seed other treatment strategies for Angelman syndrome Feb 15, 2023
<ѻýҕl>Does the Environment Override Genes for People at Risk of Stroke?ѻýҕl> Large study detects interaction between genetic susceptibility and neighborhood deprivation Feb 08, 2023
<ѻýҕl>Inflammatory VEXAS Syndrome May Not Be So Uncommonѻýҕl> Is new disease being missed by physicians? Jan 24, 2023
<ѻýҕl>Genomic Assay May Pinpoint Who Can Skip RT After Breast-Conserving Surgeryѻýҕl> Patients categorized as low risk with 16-gene signature showed no significant benefit with RT Jan 06, 2023
<ѻýҕl>Dementia Accompanying Cardiometabolic Disease: Does It Come Down to Genetics?ѻýҕl> Twin study suggests special monitoring in some individuals Dec 29, 2022