Faster Cures, More Genetic Treatments: A Q&A With NIH's Joni Rutter The NCATS Biomedical Data Translator is giving researchers ideas for new disease therapies Feb 23, 2024
Potential Biomarker for Perforated Appendicitis Shows Link to Severe Sepsis Test that can differentiate between simple and perforated appendicitis is "highly desirable" Feb 20, 2024
Genome Sequencing Identified Variants in Fetal Structural Anomalies Researcher touts identification of "high percentage of genetic disorders" Feb 14, 2024
A Clue on Why Lupus, Other Autoimmune Diseases Strike Far More Women Than Men New research shows that the extra X chromosome is involved, but in an unexpected way Feb 01, 2024
Novel Gene Therapy Allows Kids With Inherited Deafness to Hear "This is real proof showing gene therapy is working," says researcher Jan 25, 2024
FDA Approves New Agent for Nerve Pain From Rare Inherited Disease Eplontersen gets a nod for polyneuropathy from hereditary transthyretin-mediated amyloidosis Dec 22, 2023
Pomalidomide Cuts Severe Epistaxis in Genetic Bleeding Disorder 24 weeks of daily treatment significantly reduced recurrent nosebleeds in HHT trial Dec 13, 2023
Why Is VEXAS Syndrome Often Fatal? Here's an Answer New study suggests immunodeficiency is a previously unrecognized feature Dec 12, 2023
A Closer Look at the Approval of CRISPR/Cas9 Gene Therapy for Sickle Cell Disease This landmark event brings up broader considerations and implications for other diseases Dec 11, 2023
Antisense Drug Trial Provides Key Insights About Huntington's Disease Lessons learned from investigational tominersen Dec 06, 2023
Jamie Foxx's Health Scare; 23andMe Hacked; Decongestant Probe Announced Health news and commentary from around the Web gathered by staff Dec 05, 2023
Here's Why People Think They Developed Food Allergies Survey finds that 13% thought genetics were responsible, 27% blamed eating behaviors Nov 16, 2023
Promising Debut for CRISPR Gene Editing Therapy for LDL Lowering Preliminary data support concept of "molecular surgery" on PCSK9 gene Nov 12, 2023
Zoonotic Spillovers; DNA and RNA Testing for Cancer Risk Also in TTHealthWatch: genes and health conditions among Icelanders Nov 11, 2023 podcast
First Treatment Approved for Genetic Clotting Disorder Adzynma indicated as prophylactic or on-demand enzyme replacement therapy in cTTP Nov 10, 2023
Potential Cure for Sickle Cell Clears Hurdle for Approval FDA advisors suggest the benefits of gene therapy outweigh risks of off-target editing Oct 31, 2023
Quick Genetic Test Offers Hope for Sick, Undiagnosed Kids, but Few Insurers Cover It Test can "change the trajectory of these children's diseases" Oct 29, 2023
FDA Turns Down ATTR Cardiomyopathy Drug Decision cites insufficient evidence of clinical meaningfulness Oct 09, 2023
In BRCA Breast Cancer, Prophylactic Salpingo-Oophorectomy Tied to Better Survival PSO should be performed early, particularly for those with the BRCA1 variant, researchers say Oct 04, 2023
FDA OKs Another Injectable for Rare Kidney Disorder Nedosiran approved for patients ages 9 years and older with primary hyperoxaluria type 1 Oct 02, 2023
New Option OK'd for Pompe Disease FDA approves two-component therapy for patients not improving on enzyme replacement therapy Sep 29, 2023
Huntington's Disease More Severe in Black Patients at Baseline Outreach to families of minority patients may help identify genetic disorder Sep 14, 2023
FDA Panel Reluctantly Backs Patisiran for ATTR Cardiomyopathy Clinical meaningfulness is a different question, however Sep 13, 2023
Some Sinus Relief for Cystic Fibrosis Patients on Trikafta Lung function, BMI, bacterial swabs, sweat chloride levels also improved Sep 11, 2023
Rapid Genome Sequencing in Infants With Epilepsy Shows Immediate Benefit Pilot study suggests early testing for seizures, regardless of treatment setting Sep 07, 2023
Ultra-Rare Immune System Disease Gets First FDA-Approved Treatment Pozelimab reduced hospitalizations, albumin transfusions in CHAPLE disease patients Aug 18, 2023
Gene Therapy Promising for Rare Jaundice Syndrome Early-phase data suggest a dose that can keep bilirubin in check without hours of phototherapy Aug 16, 2023
Cautious Return-to-Play Appears Safe for Athletes With Heart Conditions Shift away from blanket restrictions is not placing top-tier athletes at undue risk, data suggest Aug 14, 2023
Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infants Whole genome scans took longer than a commercially available test, but not for most urgent cases Jul 11, 2023
MS Disease Severity Tied to Genetic Variant Findings mark a significant breakthrough in understanding how MS progresses Jun 28, 2023
FDA Staff Weighs 'Alternative' Data on Retinoid for Rare Bone Disorder Challenges of drug development in fibrodysplasia ossificans progressiva on full display Jun 27, 2023
Bicuspid Aortic Valves and Aortopathy Cluster Among Close Relatives Large study supports wider screening of family members of probands Jun 15, 2023
High-Dose Leptin Reversed Severe Genetic Obesity in Two Patients Metreleptin doses several times higher than recommended brought weight down to near normal Jun 14, 2023
Cautious Hope for Endovascular Aortic Tx in Connective Tissue Disease Success observed in usually contraindicated Marfan, Loeys-Dietz syndromes Jun 14, 2023
Full-On Reversal of Cardiac Amyloidosis Possible With Antibodies Future treatments don't have to be limited to slowing disease, case series suggests Jun 07, 2023
Rare Skin Blistering Condition Gets First Drug Approved FDA's decision marks first approval for a redosable gene therapy May 19, 2023
FDA 'Leans In' to Accelerated Approval for Rare Disease Drugs CBER director says "moment is tender for gene therapy," sees opportunity to "salvage" treatments May 19, 2023
Alzheimer's Progression Delayed by Rare Genetic Variant Finding challenges previous assumptions about disease May 15, 2023
B-Cell Stimulating Factors Tied to Lymphoma in Sjogren's Findings may bolster interest in BTK inhibitors for autoimmune diseases May 02, 2023
