UMass Chan receives $2.2M for research into rare genetic disorder Cockayne syndrome
Photo I Courtesy of UMass Chan Medical School
Richard DiGeorge and Jo Kaur, founders of Riaan Research Initiative, with their son Riaan who was diagnosed with Cockayne syndrome in 2021.
A New York nonprofit has donated $2.2 million to UMass Chan Medical School in Worcester to help fund gene therapy research on a rare and fatal genetic disorder largely impacting children and young adults.
The donation brings clinical trials to treat Cockayne syndrome one step closer to reality, according to a Tuesday press release from UMass Chan.
The donated funds are provided by Riaan Research Initiative, a New York nonprofit patient-advocacy organization working to find a cure for Cockayne syndrome. The organization was founded by wife and husband Jo Kaur and Richard DiGeorge, parents of 4-year-old son Riaan, who was diagnosed with the disorder.
Mainly present in children and young adults, those with Cockayne syndrome often experience significant growth failure, microcephaly, vision and hearing problems, and global developmental delays.
With no approved treatments available, the average life expectancy for children with severe Cockayne syndrome is five to seven years.
“We’re thrilled to move on to the next step of this years-long partnership with UMass Chan and are eternally grateful to our donors who have opened the doors to a better world,” Jo Kaur said in the release. “We have strong evidence of the treatment’s success in the preclinical phase and look forward to our collaborators manufacturing a potentially life-saving drug that can actually be given to our children.”
UMass Chan will partner with Andelyn Biosciences, an Ohio-based gene therapy contract development and manufacturing organization, to manufacture a clinical grade vector to treat Cockayne syndrome.
The Riaan Research Initiative first partnered with UMass Chan in 2021, the same year of Riaan’s diagnosis, to fund preclinical research and development of gene replacement therapy to treat Cockayne syndrome. The research was led by UMass Chan’s Miguel Sena-Esteves, associate professor of neurology and director of the university’s Translational Institute for Molecular Therapeutics, and Ana Rita Batista, instructor in neurology.
“Riaan Research Initiative has been an amazing partner in our journey to develop an AAV9 gene therapy for Cockayne syndrome,” Sena-Esteves said in the release. “Our dream of making a difference for Cockayne patients is coming closer every day, and signing the contract with Andelyn Biosciences to make the clinical material is a major step in that direction. Developing a gene therapy for fatal pediatric neurological diseases is challenging in many ways, but together with Riaan Research Initiative we have an outstanding team to bring our program to a first-in-human gene therapy clinical trial for Cockayne syndrome.”
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