Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

Norrie disease is an extremely rare, inherited genetic disorder that causes vision loss and was first described in Denmark in ...

A toddler was successfully treated for a rare genetic disease, spinal muscular atrophy, after world-first in-womb therapy.

People who carry a certain variation of this repeated DNA sequence have more than double the risk (2.2 times higher)of ...

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.

Qure's AMT-130 shows 80% Huntington's progress reduction, eyeing FDA approval. Click here to read why I rate QURE stock a Buy ...

A new discovery offers hope for Huntington’s disease. This discovery provides hope that a DNA repair process may help slow or ...

Medical genetics department expands services, designated as Centre of Excellence under National Policy for Rare Diseases.

Brandi Muhle was 9 years old when her 35-year-old mother, an Omaha police officer and a marathon runner, was first diagnosed ...

February is Rare Disease Month, an annual effort to highlight the challenges families can face while navigating rare ...

In the UK, approximately 17,500 people have sickle cell disease and 300 babies are born with the condition each year. It is a genetic disorder caused by inherited mutations in a person’s DNA ...

By addressing the root cause of a disease at the genetic level, this cutting-edge approach opens new avenues for medical intervention that were once unimaginable. Gene therapy involves modifying ...