German researchers Kipp et al. (2015) reported at the 2015 Interbull Annual Meeting, held earlier this month in Orlando, Fla., that they discovered a new genetic defect in Holstein dairy cattle. The ...

A child with a rare genetic disorder — spinal muscular atrophy type I — was treated prenatally for the first time. Courtesy of Jakob Owens  via Unsplash During an amniocentesis test, a long, thin ...

TLC’s Jay & Pamela introduced many viewers for the first time to osteogenesis imperfecta type 3, the super-rare genetic ...

PFIC is a group of rare genetic diseases that cause progressive liver failure. The exact prevalence of PFIC is unknown, but ...

Birth defects can be caused by genetic environmental or combined factors but some can be prevented with the right measures ...

I spotted this rook with a very unusual beak in Galway city lately. Despite the unusual shape it seemed very healthy and was ...

Zandy Forbes’ biotech company MeiraGTx has developed targeted gene therapy methods to treat more than just genetic disorders.

Craniofacial defects encompass a range of deformities affecting the skull, facial bones, and soft tissues, often resulting ...

In silico tools for splicing defect prediction have a key role to assess the impact of variants of uncertain ... was collected from four Spanish cancer genetic laboratories. The best stand-alone ...

Birth defects are critical conditions, meaning they can be very serious, even life-threatening. Each year, around 6 per cent ...

The patent describes an extremely innovative and precise method for identifying rare genetic variants within biological ...

NY resident Sebastien Beauzile was treated with a pioneering new gene therapy approach called Lyfgenia, curing his sickle ...