Large donation of $5M to UC San Diego aids research into gene therapy for uncommon illnesses
UC San Diego, one of the top 10 research universities in the world, has announced the launch of a Gene Therapy Initiative. The initiative, supported by a $5 million gift from the Nancy and Geoffrey Stack Foundation, aims to explore potential therapies for genetic conditions, particularly those affecting patients of all ages who are currently underserved due to the rarity of their disorders.
One of the genetic disorders the initiative will focus on is Angelman syndrome, a complex neurological disorder that affects about 1 in 15,000 people, causing physical and intellectual disabilities. Currently, available treatments for Angelman mainly aim to control seizures and manage symptoms, but the Gene Therapy Initiative offers hope for more effective therapies.
Alysson Muotri, a scientist involved in the initiative, stated that gene therapy allows for the restoration of faulty genes to alleviate and even cure diseases associated with each mutation. Two approaches in gene therapy will be pursued: supplying a patient's cells with a functional copy of the missing or mutated gene, and stem cell gene therapy, which corrects the genetic disease in a person's stem cells outside the body.
Two promising gene therapies for Angelman are currently in development. GTX-102, in Phase 1/2 clinical trials, and GT-AS, developed by PTC Therapeutics, are being researched to potentially provide new treatment options for those living with the disorder.
The initiative will be led by Stephanie Cherqui, PhD, and Alysson Muotri, PhD. Their work builds upon previous research, such as that which led to the development of a medication for cystinosis management by UC San Diego scientists, supported by the Stacks, whose daughter Natalie has cystinosis. Natalie, now 32, has a career in social work due to a stem cell gene therapy approach developed by UC San Diego.
Nancy Stack expressed hope that the new Gene Therapy Initiative will provide more effective therapies for those dealing with rare disorders and diseases. Gabriel Haddad, MD, also believes the initiative will have a significant impact on the lives of pediatric patients.
Despite the progress being made, it's important to note that many genetic disorders, including Angelman syndrome, are still rare, making effective treatments elusive. However, with the launch of the Gene Therapy Initiative, UC San Diego is taking a significant step towards addressing this challenge and improving the lives of those affected by rare genetic disorders.
