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

Researchers at Tel Aviv University, led by Prof. Illana Gozes, examined the effects of different mutations in the ADNP ...

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

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?

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

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

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

Sucrase-isomaltase (SI) is an intestinal enzyme critical for the digestion of dietary carbohydrates, particularly sucrose and ...

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

AAV-Navβ1 gene therapy effectively reduces seizures and prolongs life in a mouse model of SCN1B-linked Dravet syndrome, ...

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 ...