A clinical trial by Shionogi is a milestone in the search to treat Jordan's Syndrome, a rare genetic disorder named after a ...

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

Gene therapy represents a paradigm shift in modern medicine, offering unprecedented opportunities to combat diseases at their ...

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the progressive degeneration ...

Extensive genetic testing is recommended for all children with epilepsy, unexplained developmental delays, autism and ...

Vision changes are an inevitable part of aging, but why are some more susceptible to age-related eye diseases and why do some individuals experience more severe decline than others?

As key members of the Johns Hopkins Department of Genetic Medicine, genetic counselors help patients with rare diseases ...

Despite the prevalence of heart disease, many people are still unclear about how genetics can impact heart disease.

The National Organization for Rare Disorders is a coalition of patient advocacy groups and the first national nonprofit that ...

In Europe alone, approximately 2 million people live with chronic inflammatory bowel diseases (IBD), and their incidence has ...

Researchers developed a new gene-editing strategy that dramatically boosts the effectiveness of gene therapies in the liver, a breakthrough that could lead to new treatments for about 700 genetic ...

To mark progress on rare diseases, experts across the country, including those at Johns Hopkins Medicine, will celebrate Rare ...