Medical Xpress

Cockayne syndrome: New insights into cellular DNA repair mechanism

Cockayne syndrome is a severe autosomal recessive disorder caused by defective DNA repair mechanisms. People with the disease have much reduced life expectancy and suffer from facial deformities; ...
Medical Xpress

Disease or Syndrome: Cockayne syndrome

Researchers working with UMass Chan Medical School's Translational Institute for Molecular Therapeutics announced progress in developing a vector to deliver gene replacement therapy in mice models ...

First Patient in the World Treated With Gene Therapy for Cockayne Syndrome

Riaan Research Initiative (RRI), a rare disease patient advocacy organization based in New York City, announced that 6-year-old Riaan Singh Digeorge, a Queens resident, has become the first patient to ...
WBJournal

UMass Chan receives $2.2M for research into rare genetic disorder Cockayne syndrome

Richard DiGeorge and Jo Kaur, founders of Riaan Research Initiative, with their son Riaan who was diagnosed with Cockayne syndrome in 2021. PHOTO I COURTESY OF UMASS CHAN MEDICAL SCHOOL A New York ...