Gene Therapy Effective for Treating Rare Immunodeficiency
Pilot studies report event-free survival following novel gene therapy for ADA-SCID Treatment of...
Genetics
Possible Curative Gene Therapy for Sickle Cell Disease —But Costs Millions of Dollars
Providing treatment, no matter the cost, may even out long-standing disparities While an...
Use of SNP Chips to Detect Rare Pathogenic Variants
Single gene disorders that are caused by genetic variants are rare, and finding them can lead to a high probability of disease in an individual and their family. This study aims to determine whether the specificity and...
Misdirected Mitochondrial DNA May Trigger Inflammation in Sickle Cell Disease
Researchers look to errant cells as possible cause of increased inflammation typical in SCD...
Kids May Not Be ’Hard-Wired’ for Obesity
Study assessed nature and nurture Genetics can’t necessarily be blamed for excess weight in...
Bipolar Disorder: New BD Risk Loci Identified in Genome-Wide Association Study
Research illuminates genetic basis for BD in Han Chinese and European patients In a recent...
Genetic Variants Linked to Severe Covid-19
Genome-wide association study identifies ABO blood protein The identification of a gene cluster...
Exome Sequencing Unlocks Molecular Diagnosis for Subset of Stillbirths
Loss-of-function genetic variants key to survival Using exome sequencing in a cohort of 246...
Givosiran Cuts Porphyria Attacks but Comes At a Price
The RNA interference therapy led to higher frequency of hepatic and renal adverse events Patients...
Facioscapulohumeral Muscular Dystrophy Phenotypic Variation Identified
Study ’brings FSHD back to the clinic’ Knowing the phenotypic variations in facioscapulohumeral muscular dystrophy (FSHD) can help clinicians better manage the disease and offer more informed genetic counseling,...
