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
New Recommendations Address Global Inequality in Sickle Cell Disease Care Commission lays out strategies for progress by 2025 and beyond Jul 13, 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
How to Overcome the Catch-22 in Precision Medicine Research Improving the patient experience will go a long way May 31, 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
ASCO Backs Routine ESR1 Testing for Certain Breast Cancers Activity of elacestrant in EMERALD trial "provides strong signal" for guideline update May 18, 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
FDA Extends Trikafta Approval to Even Younger Cystic Fibrosis Patients Patients ages 2 to 5 years now eligible for the triple therapy Apr 27, 2023
Genomics Add Insight Into Worse Colorectal Cancer Outcomes in Black Patients Fewer actionable mutations, less likely to meet genomic criteria for immunotherapy Apr 19, 2023
Many With Cancer Predisposition Diseases Unaware of Genetic Status Moreover, a significant proportion do not qualify for genetic screening under current guidelines Apr 19, 2023
Oral Drug Improves Sunlight Tolerance in Genetic Photosensitivity Disorders Dersimelagon significantly extended time to sun-related prodromal symptoms Apr 12, 2023
Genomics Can Help Diagnose Rare Pediatric Diseases Large study found genomic analysis delivered answers for 41% of kids with undiagnosed disease Apr 12, 2023
NIH's Genome Chief Says Genomics Is Evolving and Docs Need More Education on It National Human Genome Research Institute Director Eric Green sits down with ľֱ Apr 07, 2023
A 'Double Whammy' for Gastric Cancer Risk H. pylori infection and certain pathogenic variants linked with large excess risk Mar 29, 2023
Common Enzyme Deficiency Linked With COVID Severity Certain groups of men with G6PD deficiency had higher odds of severe illness Mar 29, 2023
FDA Greenlights First Drug for Rare Immunodeficiency Disease Activated PI3K-delta syndrome may have a new standard of care Mar 27, 2023
Investigational ALS Drug May Have Clinical Benefit, FDA Staff Says Neurofilament light will be evaluated as a surrogate endpoint in tofersen review Mar 20, 2023
Fetus Removed From Brain of 1-Year-Old Girl Intracranial fetus-in-fetu identified in child with motor delay Mar 09, 2023
KRAS Mutations in Metastatic CRC Predict Survival Benefit of Chemo Combo Trifluridine/tipiracil fails to improve survival in patients with KRAS G12-mutant tumors Mar 06, 2023
Expanding ICD Codes May Aid Rare Disease Patients, Research NCATS explores how best to use diagnostic codes to move field forward Mar 02, 2023
First Treatment Approved for Rare Neurodegenerative Disorder Omaveloxolone gets FDA nod for Friedreich's ataxia Mar 01, 2023
FDA OKs First Therapy for Alpha-Mannosidosis Velmanase alfa approved for treating non-CNS manifestations of progressive, inherited disease Feb 17, 2023
Rare Disease Non-Profit Shows Drug Development Savvy FAST sold a drug candidate to seed other treatment strategies for Angelman syndrome Feb 15, 2023
Does the Environment Override Genes for People at Risk of Stroke? Large study detects interaction between genetic susceptibility and neighborhood deprivation Feb 08, 2023
Inflammatory VEXAS Syndrome May Not Be So Uncommon Is new disease being missed by physicians? Jan 24, 2023
We're Underutilizing Genetic Testing for Colorectal Cancer Universal germline testing should be part of the standard of cancer care Jan 20, 2023
Genomic Assay May Pinpoint Who Can Skip RT After Breast-Conserving Surgery Patients categorized as low risk with 16-gene signature showed no significant benefit with RT Jan 06, 2023
Dementia Accompanying Cardiometabolic Disease: Does It Come Down to Genetics? Twin study suggests special monitoring in some individuals Dec 29, 2022
Families Push Research Forward in Rare Diseases The field has a unique funding model. While fruitful, some question if it needs to change. Dec 26, 2022
COVID Vaccines Made mRNA a Household Name. How Can It Help in Rare Diseases? A handful of companies have mRNA therapies in human trials for rare diseases Dec 26, 2022
