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
Antisense Drug Slashed Hereditary Angioedema Attacks in Small Study Donidalorsen also allowed longer intervals between treatments Mar 16, 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
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
An Unhealthy Diet Feeds Into Clonal Hematopoiesis Can diet mitigate the CVD risk of this age-related genetic phenomenon? Jun 09, 2021
Familial Hypercholesterolemia Tends to Slip Past Genetic Tests Array-based screens no match for more comprehensive tests May 26, 2021
N.J. Mother Sues Her Former Doctor for Fertility Fraud DNA kit identified fertility doctor as daughter's father, suit alleges May 25, 2021
Optogenetic Tx Partially Restores Vision in Blind Man After 40 Years A less invasive approach to restoring lost sight due to retinitis pigmentosa May 24, 2021
C3 Inhibitor Prevails in Trial of Rare Hemoglobinuria Improvement in hemoglobin, transfusion independence with pegcetacoplan for PNH Mar 17, 2021
Oncotype DX Misses on Breast Cancer Risk in Black Women Accuracy of 21-gene recurrence score worse compared with white women Jan 21, 2021
Not Just BRCA: Large Studies ID Other Key Breast Cancer Risk Genes Implications for screening and other risk-management strategies, researchers say Jan 20, 2021
Broader Role for PARP Inhibitors in Breast Cancer? Responses in tumors with somatic or germline mutations related to HRD Dec 14, 2020
Gene Therapy Stops Bleeding in Hemophilia Single injection had durable effectiveness, study showed Dec 08, 2020
ANGPTL3 Blocker Halves LDL in High-Risk Group Evinacumab worked in patients refractory to statins, PCSK9 inhibitors Nov 16, 2020
SPRINT: African Ancestry Not an Innate CVD Risk in Blacks Study refutes genetic basis for racial disparities in hypertension, CVD Nov 13, 2020
MC4 Agonist Cuts Body Weight, Hunger in Genetically-Driven Obesity Trial success raises questions about broader application Nov 04, 2020
Military Burn Pits Linked With RA Seropositivity Highest risks for anti-CCP antibodies seen for smokers and those with the HLA-DRB1 shared epitope genes Oct 23, 2020
Which Women Choose Hormones for Surgical Menopause? Understanding patterns of use can help improve targeting for education and counseling, researchers say Aug 12, 2020
Dementia Tied to Olfaction; Preclinical Alzheimer's Trial; Guillain-Barré and COVID-19 News and commentary from the world of neurology and neuroscience Jul 21, 2020
HIV: Don't Quit on Hope, Says 'London Patient' IAC roundtable addresses prospects for cure, now proven to be possible Jul 06, 2020
Talzenna Misses OS Endpoint in BRCA-Positive Breast Cancer But PARP inhibitor improved patient-reported outcomes over standard therapy Apr 29, 2020
Does G6PD Deficiency Relate to COVID-19 Infection? Several hints of one, pointing to need for focused research Apr 13, 2020
Mavacamten Promising in Non-Obstructive HCM Phase II MAVERICK-HCM trial looked at safety, efficacy of myosin inhibitor Apr 01, 2020
Homozygous FH Falls to Praluent, Novel Agent Drugs succeed in cutting LDL in extra-refractory form of high cholesterol Mar 31, 2020
SCOTUS Punts on Biomarker Test Patents Wide-ranging issue effectively referred to Congress Jan 13, 2020
