First Treatment Approved for Rare Genetic Neurologic Disorder Treatment for symptoms of Rett syndrome gets FDA nod Mar 13, 2023
Fetus Removed From Brain of 1-Year-Old Girl Intracranial fetus-in-fetu identified in child with motor delay Mar 09, 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
NIH Project Aims to Make Gene Therapy 'Playbook' Public PaVe-GT will streamline gene therapy production and share "proprietary" information Jan 18, 2023
Accelerated Approval Not the Finish Line, Says FDA Commissioner Omnibus bill requires confirmatory trials of drug companies Jan 10, 2023
Genetic Screening Program Identifies Unsuspected Thyroid Cancer But few patients opted for surgery, making value of screening questionable, say editorialists Jan 09, 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
FDA Advisors Cleared a Path for New Gene Therapies in 2022 Both betibeglogene autotemcel and elivaldogene autotemcel approved for rare diseases Dec 30, 2022
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
Early Win for Gene Therapy in Rare Form of SCID 10 infants were able to make their own T cells; safety good so far Dec 21, 2022
Topical Gene Therapy Heals Blistering Skin Disease Lesions Randomized trial shows "dramatic" benefits in rare genetic disease Dec 14, 2022
mRNA Cancer Vaccine Shows Promise in Early Trial Melanoma patients who had vax plus PD-1 inhibitor did better than those on pembrolizumab alone Dec 14, 2022
Assay Predicts Breast Cancer Patients Who Will Benefit From Ovarian Suppression Low score suggests improved outcomes with ovarian suppression plus adjuvant endocrine therapy Dec 07, 2022
Decoding Cancer A conversation with Harold Varmus, MD, who received the Nobel Prize in Physiology or Medicine in 1989 Dec 06, 2022 podcast
Chris Hemsworth's APOE4 Alzheimer's Gene The Thor actor recently learned about his genetic predisposition Dec 01, 2022
FDA OKs First Gene Therapy for Hemophilia B Hemgenix reduced rate of annual bleeds, eliminated need for factor IX prophylaxis therapy Nov 22, 2022
Thor's Alzheimer's Risk; Fake Doc Gets Life Sentence; $1M for Chance of Longer Life Health news and commentary from around the Web gathered by MedPage Today staff Nov 18, 2022
Early Cardiac Amyloidosis Still Bad News Without Treatment Observational study supports treating even asymptomatic patients Nov 16, 2022
CRISPR Shows Promise for Hereditary Angioedema in First-in-Human Trial No safety concerns reported and swelling attacks declined Nov 15, 2022
Promising Results in First Test of In Utero Enzyme-Replacement Therapy Treatment was safe, effective in one baby with infantile-onset Pompe disease Nov 09, 2022
Texas Says DNA Kits for Schoolchildren Not Tied to Uvalde Shooting State education agency says effort was designed to help law enforcement find missing kids Oct 27, 2022
TETA4 Noninferior to Penicillamine for Stable Wilson's Disease Phase III study results led to trientine tetrahydrochloride's FDA approval for this rare disorder Oct 03, 2022
How Genes Affect Healthy Life Years; Active Surveillance for Prostate Cancer Also in TTHealthWatch: predicting who will respond to CAR-T therapy Sep 24, 2022 podcast
Gene Therapy for Degenerative Brain Disorder Wins FDA Nod $3 million price tag for one-time treatment Sep 19, 2022
Blood Type Tied to Early-Onset Stroke Risk Findings point to prothrombotic mechanisms in younger stroke patients Sep 01, 2022
FDA OKs First Treatment for Acid Sphingomyelinase Deficiency Enzyme replacement therapy reduces sphingomyelin accumulation Aug 31, 2022
Pralsetinib Shows Promise in Diverse RET Fusion-Positive Cancers An ORR of 57% supports results previously observed in NSCLC and thyroid cancer Aug 26, 2022
Vax Skeptics Eye Hospital Board Seats; Pharmacist Denies Morning-After Pill This past week in healthcare investigations Aug 10, 2022
Nurture Over Nature: Environment Plays Greater Role in Teen Psychosis Genetics contributed less with more exposures to environmental risk factors, research suggests Aug 03, 2022
Rare Mutations Linked to Protection Against Liver Disease Carriers of CIDEB variants were at lower risk for liver disease of any cause, study shows Jul 27, 2022
Starch for Cancer Prevention? It's Not as Bananas as You Think Resistant starch may be protective against certain Lynch syndrome-related cancers Jul 25, 2022
'A New Hope' for Rare, Deadly Liver Disease Small fazirsiran trial sees fibrosis regressions for liver disease associated with AAT deficiency Jun 28, 2022
Beta-Thalassemia Gene Tx Gets Ringing Endorsement From FDA Advisers "Outstanding" efficacy, "life-changing" for transfusion-dependent patients, says panelist Jun 10, 2022