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

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

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

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

Four-week-old Tommy Parry is one of only 23 in the world ever to be born with the mitochondrial gene, which impairs his ...

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