The next day, on April 21, 2026, ... gene therapy for Cockayne syndrome. ... Cockayne syndrome is an ultra-rare genetic disorder that causes progressive disease and early death. It was not included on our prenatal genetic screenings. We heard of it for the first time when Riaan was diagnosed at 15 months old. In Riaan, a gene called CSA, critical to DNA repair, transcription, and cellular health, does ... The next day, on April 21, 2026, Riaan was scheduled to become the first child in the world to receive a first-in-human gene therapy for Cockayne syndrome. ... Cockayne syndrome is an ultra-rare genetic disorder that causes progressive disease and early death. It was not included on our prenatal genetic screenings. We heard of it for the first time when Riaan was diagnosed at 15 months old. In Riaan, a gene called CSA, critical to DNA repair, transcription, and cellular health, does not function properly. “That first night, the grief and shock were so overwhelming, I didn’t see how my body could survive it.” She is the founder of Riaan Research Initiative, a patient advocacy organization working to develop gene therapy treatments for Cockayne syndrome, a rare and fatal pediatric genetic disorder. Jo began the organization in 2021 after her son Riaan was diagnosed with the disease. The author, her husband Richie, and Riaan after he received his gene therapy. ... Richie and I spent long nights on the couch, sometimes bickering, feeling the burden of having to make this impossible parenting decision. “Why couldn’t we get easier parenting choices?” · “We’re also one of the only parents who have access to a treatment for their child’s rare disease.

The RRI case illustrates a broader trend in rare disease research: parent-advocacy organizations increasingly driving early-phase drug development in the absence of pharmaceutical industry investment. For hearing healthcare providers managing patients with syndromic hearing loss, the progress on Cockayne syndrome may signal emerging therapeutic options that could one day ... The RRI case illustrates a broader trend in rare disease research: parent-advocacy organizations increasingly driving early-phase drug development in the absence of pharmaceutical industry investment. For hearing healthcare providers managing patients with syndromic hearing loss, the progress on Cockayne syndrome may signal emerging therapeutic options that could one day intersect with audiological care planning. A 6-year-old boy with Cockayne syndrome — a rare genetic disorder that causes hearing loss, vision impairment, and early death — has become the first child to receive an experimental AAV9 gene therapy developed through a parent-led initiative. The gene therapy was developed through Riaan Research Initiative (RRI), a rare disease patient advocacy organization founded in June 2021 by Riaan’s parents, Jo Kaur and Richard Digeorge, shortly after their son’s diagnosis. A child diagnosed with Cockayne syndrome, a severe genetic disorder that causes progressive hearing loss, brain atrophy, and early death, has received an experimental gene therapy in what advocates are calling a historic milestone for rare disease drug development.

/PRNewswire/ -- Riaan Research Initiative (RRI), a rare disease patient advocacy organization based in New York City, announced that 6-year-old Riaan Singh... NEW YORK, June 22, 2026 /PRNewswire/ -- 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 receive an experimental gene therapy for Cockayne syndrome, a devastating genetic disorder that causes premature aging and early death. Riaan Research Initiative, headed by Jo Kaur, is a rare disease patient advocacy organization dedicated to accelerating the development of treatments for Cockayne syndrome, including gene therapy and drug repurposing programs. Children who are more severely impacted, like Riaan, have a life expectancy of 5 to 7 years. The disease is estimated to affect approximately 1-3 per one million people and is one of many ultra-rare conditions where urgent patient needs often remain unmet under conventional drug development models. This groundbreaking milestone reflects the critical role of parent-led efforts to develop treatments for pediatric rare diseases when traditional pathways remain limited.