Gene-editing therapy reduced pathologic transthyretin protein An investigational CRISPR gene-editing therapy reduced pathologic transthyretin (TTR) protein in a small group of patients with hereditary transthyretin amyloidosis...
Extensive study of five affected families provides some answers and more questions Severe loss or complete absence of ATG7, an enzyme regulated by the ATG7 gene that is critical for autophagy, is characterized by...
Pilot studies report event-free survival following novel gene therapy for ADA-SCID Treatment of young children with adenosine deaminase (ADA) deficiency (ADA-SCID) with an investigational ex vivo lentiviral hematopoietic stem...
Providing treatment, no matter the cost, may even out long-standing disparities While an investigational gene therapy for severe sickle cell disease could bring substantial benefits for patients—and potentially even a...
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...
Researchers look to errant cells as possible cause of increased inflammation typical in SCD Mitochondrial DNA may be the culprit behind the increased inflammation typical in individuals with sickle cell disease (SCD),...
Study assessed nature and nurture Genetics can’t necessarily be blamed for excess weight in kids, according to a study from Germany, which suggested that genes played a minor role in weight reduction by lifestyle in...
Research illuminates genetic basis for BD in Han Chinese and European patients In a recent genome-wide association study (GWAS), researchers identified several genes and loci that are involved in the heritable risk of bipolar...
Genome-wide association study identifies ABO blood protein The identification of a gene cluster...
Loss-of-function genetic variants key to survival Using exome sequencing in a cohort of 246 stillborn neonates, researchers identified a genetic variant that may be causal in a subset of stillbirths.Senior researchers David B....
The RNA interference therapy led to higher frequency of hepatic and renal adverse events Patients with acute intermittent porphyria treated with RNA interference (RNAi) had a significantly lower rate of attacks, and better...
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,...
