Five families with children who have the newly discovered rare condition, ReNU syndrome, recently gathered in a D.C. park.

A rare genetic mutation in a European sperm donor has reportedly caused cancer in 10 children, highlighting the need for ...

The lack of animal models that mimic human disease impedes the study of many pathologies that still lack treatment beyond symptom relief. This is what has happened so far with PURA syndrome, a rare ...

The child will need to be monitored throughout his life, but researchers said the treatment’s success indicates that other ...

The baby KJ Muldoon suffers of a rare genetic disease, but now thanks to an experimental gene editing treatment, he is now on the road to recovery.

The one-off treatment highlights the promise of a new type of gene editing and the challenges of using it to treat extremely ...

Mansour is set to make medical history as the first person in the world to receive treatment for NARS1, a rare genetic disorder. (Juan Figueroa / Staff Photographer) An 11-year-old from Rowlett is ...

PURA, and CTNNB1—in human cell cultures and animal models. We stand on the brink of medical breakthroughs—we are so close. This research addresses a fundamental challenge in treating genetic disorders ...

PURA, and CTNNB1—in human cell cultures and animal models. We stand on the brink of medical breakthroughs—we are so close. This research addresses a fundamental challenge in treating genetic disorders ...

Later this year, primary care clinicians and pediatricians at the health system will be able to initiate genetic testing for children with neurodevelopmental and other disorders directly through ...

When a 3-year-old New York boy was diagnosed with a rare genetic disorder, hope came in an unlikely form: a golden retriever named Yammy. Susan Bresnahan’s son, Patrick, was born in 2020 during ...

Genetics is just one of several factors thought to influence personality disorder development. Life experiences, family dynamics, coping mechanisms, and social learning may all be contributing ...