Splicing modulation therapy for choroideremia
Rob W.J. Collin, PhD
Professor, Department of Human Genetics
Radboud University Medical Center
Nijmegen, The Netherlands
Lay Abstract
This study aims to develop an antisense oligonucleotide (ASO)-based splicing modulation therapy tailored to the c.1359C>T variant of CHM. A successful outcome will deliver a potent (safe and efficacious) ASO that can be further developed (in vivo safety, GMP manufacturing) in preparation of therapeutic intervention. The long-term aim is to determine if ASOs can be developed as personalized treatments to stop further progression of choroideremia.
Key Findings
This research is currently underway. Key findings will be published upon research conclusion.
CRF is registered as a US 501(c)3 nonprofit organization EIN: 04-3511754
Our mission is to raise funds in support of scientific research leading to a treatment or cure of choroideremia, a hereditary retinal-degenerative disease that causes blindness; to educate people affected by the disease; and to inform the public.
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