There was also substantial variation in knowing someone having a child born with a genetic defect by race/ethnicity. Although 63.5% of non-Hispanic whites reported that they know someone having a ...

Affected populations: PFIC is a group of rare genetic diseases that cause progressive liver failure. The exact prevalence of ...

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

A single injection of a healthy gene allowed blind children to recognize objects, shapes, and even read — offering hope for ...

Unlike traditional therapies that manage symptoms, gene therapy addresses the underlying genetic defect. This offers a more permanent solution and reduces the need for lifelong treatments.

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

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

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

Dystrophin is important for cell membrane stability in muscle fibers. Due to the genetic defect, dystrophin is absent. As a consequence, muscle cells are restricted in their function and the ...

Maple syrup urine disease (MSUD) is a rare metabolic disorder that some babies are born with. It is caused by a defect in an ...

Scientists at the Icahn School of Medicine at Mount Sinai and collaborators have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

A new study has found that genetic variants affecting sucrase, a digestive enzyme, are associated with an increased risk of irritable bowel syndrome (IBS). Researchers analyzed data from over 360,000 ...