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
My Risk Revealed: A Confirmed BRCA2 Mutation My dad's cancer diagnosis offered me invaluable information Oct 30, 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
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
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
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
FDA Panel Backs Gene Tx for Degenerative Brain Disorder in Kids Advisers unanimously recommend approval for pediatric ALD patients without HLA-matched donors Jun 10, 2022
T-Cell Receptor Gene Therapy Shows Promise in Pancreatic Cancer Novel treatment targeting KRAS G12D expression induces deep and durable response Jun 01, 2022
Do Pediatric Electrophysiologists Have It Harder? Clinicians discuss the dilemmas and shortcomings in the field May 02, 2022
FDA Issues Warning on Prenatal Genetic Tests Relying on results could lead to inappropriate medical decisions, agency warns Apr 19, 2022
Gilbert Gottfried's Myotonic Dystrophy The genetic condition that claimed the life of the acclaimed comedian Apr 15, 2022
New Clue to Risk of Peritoneal Cancer After Prophylactic Salpingo-Oophorectomy Women with BRCA variant and serous tubal intraepithelial carcinoma had a 34-fold greater risk Apr 05, 2022
First Topical Therapy for Facial Angiofibroma Nabs FDA Approval New alternative to dermabrasion, laser treatment, surgery Apr 04, 2022
The Evolving Role of the Medical Geneticist ACMG leadership on new opportunities for clinicians and the future of genetic medicine Mar 23, 2022
Experts Question Whether It's Okay to Test Embryos for Common Diseases Researchers developed an algorithm to test for diseases such as diabetes, but is it ethical? Mar 21, 2022
Antisense Drug Slashed Hereditary Angioedema Attacks in Small Study Donidalorsen also allowed longer intervals between treatments Mar 16, 2022
Prenatal Blood Test Info Often Misleads, Endangering Normal Pregnancies Report blasts misleading language around non-invasive prenatal blood tests Mar 14, 2022
'Small Data' Goes a Long Way in Rare Disease Research A close doctor-patient relationship can make all the difference Feb 28, 2022
Genetic Role of Alcohol-Cancer Link Strengthened In study from China, two common variants associated with lower risk of cancer in men Feb 01, 2022
Gene Therapy Shows Clinical Benefit in Metachromatic Leukodystrophy Motor development, cognitive function preserved in early-onset patients Jan 24, 2022
The Real Reason Some Newborns Don't Get Screening for Deadly Diseases Why do newborn screening tests vary so much from state to state? Dec 21, 2021
Highly Mutated Breast Cancer Responds to Immunotherapy Nivolumab-ipilimumab combination associated with durable response in small study Dec 09, 2021
Genetic Testing Benefits Children With Unexplained Epilepsy Findings can alter treatment, prognosis, overall care Dec 05, 2021
Preimplantation Genetic Testing Fails to Improve IVF Birth Rates Testing not necessary for women with good chance of live birth, experts say Nov 24, 2021
FDA Panel Shows Little Love for Prader-Willi Drug Candidate All but one committee member said phase III evidence for carbetocin nasal spray was insufficient Nov 05, 2021
Ibrutinib Boosts Survival in Younger Patients With Certain DLBCL Subtypes New analysis "casts the PHOENIX trial in a new light," authors say Nov 04, 2021
Common Gene Variant May Predict Peritoneal Dialysis Outcomes Study also suggests that one dialysate type is better for carriers Oct 20, 2021
Gene Expression Test Improves IPF Diagnosis Quasi-real-world study indicates that physicians will likely find it helpful Oct 18, 2021
More Severe Congenital Heart Disease Tied to Lower IQ in Kids IQ reduced by 10 points compared with healthy peers Sep 24, 2021
Liver Toxicity in Gene Therapy Trials Could Merit Stricter Entry Criteria FDA panel weighs in on lower vector doses and role of animal studies Sep 03, 2021
A Familiar Drug Can Keep Early-Stage HCM at Bay Treatment with valsartan most beneficial when started early? Aug 27, 2021
Genetics, Socioeconomic Factors Each Tied to Diabetes and Obesity People with highest risk genetics more than 15 times more likely to have T2D Jun 30, 2021
Rapid Genetic Testing May Have Spared This Baby From Death Whole-genome sequencing delivered diagnosis in record 13 hours; treated with thiamine Jun 15, 2021
