A Seaford family is sharing their journey and looking to help other families impacted by a rare genetic disorder. Jennifer and Ed McCormack's 4-year-old daughter, Hailey, has AGS, or Aicardi-Goutières ...

Researchers have been trying to solve the mystery of a rare genetic disorder called spinocerebellar ataxia 4 (SCA4) for many years. The disease causes impairments in movement and balance, and these ...

On the cusp of becoming a teenager, Violet Fuchs loves music and cherishes family trips to Disney World. But since she was an infant, she and her family have had to fight for those bits of normalcy as ...

You’ve likely heard people mention that they have inherited certain health conditions from their family. These are known as genetic disorders—conditions passed down from parents through DNA. In this ...

3M syndrome is a rare autosomal recessive primordial growth disorder that manifests as severe pre‐ and post‐natal growth retardation, typical facial dysmorphism and skeletal anomalies. Mutations in ...