Genetic Code
Novel gene variants may predict risk for co-occurring Parkinson’s disease, IBD
Novel forms of a rare genetic variant may contribute to the risk for co-occurring Parkinson’s disease and inflammatory bowel disease, according to research presented in Genome Medicine.
CRISPR-based genome editing therapy may help in ATTR amyloidosis with cardiomyopathy
CHICAGO — A novel CRISPR-based in vivo gene editing therapy reduced transthyretin levels in patients with hereditary transthyretin amyloidosis with cardiomyopathy, researchers reported at the American Heart Association Scientific Sessions.
Rare genetic coding variants may predict high-risk SCAD phenotype
Approximately one in five adults with spontaneous coronary artery dissection with high-risk features had an increased burden of rare genetic variants on whole-exome sequencing, suggesting testing may be considered, researchers reported.
Rare germline mutations in CIDEB gene protect against liver disease, damage
In one of the largest exome-sequencing studies on liver health, researchers found rare genetic loss-of-function variants in the CIDEB gene were associated with significant protection from liver damage and disease.