Our study introduces a new tool called FUSE (Functional Substitution Estimation) that helps scientists better understand how changes in genes affect proteins.
DNA analysis of newborns can detect many more preventable or treatable health problems than standard newborn screening does, ...
FA is a progressive neuromuscular disease that causes loss of coordination and mobility. My parents got my test results the ...
Broad Institute and Northwestern University researchers are encouraging others to examine noncoding genes, when investigating ...
DNA analysis of newborns can detect many more preventable or treatable health problems than standard newborn screeni ...
When a gene produces too much protein, it can have devastating consequences on brain development and function.
When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding ...
Researchers at Tufts University School of Medicine and the Graduate School of Biomedical Sciences (GSBS) have identified a ...
New research demonstrates the potential of precise genome editing technologies, called adenine base editors, to correct disease-causing mutations in stem cells from patients with X-linked chronic ...
Savara Inc. (Nasdaq: SVRA) (the Company), a clinical stage biopharmaceutical company focused on rare respiratory diseases, ...
A genetic analysis suggests that a rare form of osteoporosis may be partly caused by disruptions to the hormone melatonin.