Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive ...

A team led by University of Pittsburgh School of Public Health geneticists has shown, for the first time, that a gene "silencer" that resides in junk DNA is directly sparing people from a devastating ...

CADASIL, an inherited disease caused by mutations in the NOTCH3 gene, damages the brain’s small blood vessels, leading to ...

Lynch syndrome, an autosomal dominant disorder caused by defective DNA mismatch repair genes, is linked to early-onset colorectal, ovarian, gastric, urinary tract and, less commonly, small bowel, ...