Her 14-year-old twin sons, Grady and Jace, both have PKAN, a rare genetic disorder that affects walking, eating, and speaking ...

Miriya Nurse, 16, spent months in the hospital undergoing a groundbreaking treatment that cured her rare blood disorder.

The Recommended Uniform Screening Panel now includes DMD and MLD, which has implications for firms developing treatments for ...

Health experts say the proposed Assisted Reproductive Technology Bill could close gaps by enforcing genetic screening, donor ...

Researchers used miniature human brains grown in the lab to uncover why certain genetic mutations lead to abnormally small brains. Changes in actin disrupted the orientation of early brain cell ...

Ann-Louise has a rare life-limiting condition, but lights up when she sings. As our Mirror Christmas appeal for Lifelites ...

Vanderbilt University Medical Center is recruiting participants for the Phase 3 Hunger Elimination or Reduction Objective ...

U.S. Health Secretary Robert F. Kennedy Jr. on Tuesday added two rare genetic disorders, Duchenne Muscular Dystrophy and ...

The drug, CUTX-101, is intended for the treatment of Menkes disease, a rare X-linked recessive genetic disorder affecting ...

Laura Devlin noticed that her daughter, Penny, seemed unsteady on her feet. It took her seven years to find out why ...

GeneDx , a leader in delivering improved health outcomes through genomic insights, today announced that the GUARDIAN (Genomic Uniform-screening Against Rare Disease In All Newborns) study has been ...

Around 200 children across Europe were conceived from a single sperm donor unknowingly carrying a rare cancer-linked mutation. The tragedy exposes gaps in genetic screening and cross-border donor ...