Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...

An HIV patient in Oslo has been in remission for the past five years following a stem cell transplant from his brother, who ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation that sabotages one of the brain’s key protective enzymes. The discovery not ...

A man from Norway has likely been cured of HIV after receiving a stem cell transplant from his brother, who has two copies of ...

A 64-year-old Norwegian man appears to have been cured of HIV following a stem cell transplant from his sibling. The patient, ...

New research suggests that autoimmune diseases may be driven by DNA mutations in immune cells that remove the natural brakes ...

Scientists have identified rare genetic mutations granting extraordinary abilities, including minimal sleep, extreme strength ...

New rare genetic variants are linked to ALS, expanding understanding of genetic contributors. About a quarter of ALS cases have an identifiable genetic contributor. Findings support broader use of ...

Columbia's Silence ALS program is testing spinal antisense therapy in a high‑risk patient; early EMG tests normalized.

Scientists have corrected an extremely rare and life-threatening genetic disease of the liver in mouse models and human ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Mutations in a gene known as CPD play a crucial role in a rare form of congenital hearing loss, an international team of researchers has discovered. Scientists from the University of Chicago, the ...