Genetic Disorders

Following a multicenter study, the FDA has approved the first enzyme replacement therapy in the United States to treat alpha-mannosidosis.

The first of its kind gene therapy treatment has been approved by the FDA for adults with Hemophilia B.

The researchers set out to determine whether rare variations in certain genes contribute to the risk of developing sJIA.

Adhesive capsulitis, known as “frozen shoulder,” has a strong association with specific gene variants

The FDA approved an intravenous infusion medication to treat symptoms of this rare genetic disease that affects the liver, spleen, lung, and brain.

In a new study, researchers used the largest aggregate of genome-wide association studies data to identify novel risk loci and gained further insight into the causes of Parkinson disease.

The authors of a new study evaluated data on more than 400 first-degree relatives of individuals with celiac disease to determine how likely relatives are to also have the disease.

The complement pathway plays