A study of 470,000 people reveals that the APOE gene could be behind 90% of Alzheimer's cases in the world today.

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

On World Rare Disease Day, we take a look at Pompe disease - a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen buildup in muscles. It results in progressive muscle ...

Amelogenesis imperfecta (AI) comprises a heterogeneous group of inherited disorders that affect the formation and quality of dental enamel. This condition arises from mutations in a diverse set of ...

The same pathogen can often elicit very different responses from different people. Scientists sought to understand more about ...

Using CRISPR, Hebrew University of Jerusalem team finds PEDS1 enzyme linked to reduced brain size; study maps 331 genes ...

Advances in DNA sequencing have revealed something surprising—not everyone with the same genetic change develops the same ...

CRISPR gene therapy Casgevy can nearly eliminate sickle cell crises, but difficult stem‑cell collection is delaying access ...

Durham-based Precision BioSciences, a gene-editing company, has received regulatory clearance to begin a clinical study of its potential treatment for Duchenne muscular dystrophy (DMD), a rare ...

As Uganda rolls out mandatory nationwide screening of newborns for sickle cell disease this month, a gene therapy celebrated ...

Gene therapy has been successfully used to treat a number of diseases, including immune deficiencies, hereditary blindness, ...