As reported by UC San Diego News, the Gene Therapy Initiative is seeking to develop a novel gene-based treatments for children and adults suffering from rare genetic diseases, drawing upon the wealth of experience and world-class expertise of UC San Diego's researchers.
For many patients afflicted with a genetic disease, effective treatments can be tricky to come by since the rarity of these conditions often limits the opportunities for medical research. The launch of the Gene Therapy Initiative is poised to make a substantial impact on the lives of patients with genetic diseases, many of whom face a combination of devastating symptoms and few, if any, treatment options.
The initiative is a result of years of collaboration and dedication by the Stack family and UC San Diego researchers in the quest for better treatments for their daughter Natalie, who was diagnosed with the rare genetic disease cystinosis when less than a year old. As another UC San Diego News article highlighted, the Stacks established the Cystinosis Research Foundation and have supported various research projects at UC San Diego, beginning with the late Jerry Schneider, MD, and continuing with Stephanie Cherqui, PhD, professor of pediatrics at UC San Diego School of Medicine and chair of the Cystinosis Stem Cell and Gene Therapy Consortium.
It was through this partnership that UC San Diego researchers contributed to the development of a slow-release version of a medication for cystinosis, and more recently, a stem cell gene therapy approach. Natalie's experience with these therapies has been transformative, enabling her to pursue a career in social work and plan her wedding in the fall.
Stephanie Cherqui will be leading the Gene Therapy Initiative, working alongside Alysson Muotri, PhD, a professor in the Departments of Pediatrics and Cellular and Molecular Medicine at UC San Diego School of Medicine. The goal of the initiative is to bring together key investigators, clinicians, knowledge, and resources to promote new discoveries and advancements in gene therapy.
Two primary pathways currently exist for gene therapy treatment:
1. Stem Cell Gene Therapy (also known as ex vivo gene therapy): In this pathway, a person's stem cells are genetically corrected outside the body and then reintroduced. This therapy is used for diseases affecting multiple organs since stem cells can integrate into all body tissues and deliver the missing protein to diseased cells. This technology has seen significant success in multiple blood, metabolic, and neurological disorders.
2. Gene Therapy (also known as in vivo gene therapy): This pathway uses a delivery vector such as lipids or recombinant viruses to introduce the corrected genes or enzymes that fix damaged genes responsible for genetic illnesses. While the process is complex and only a few facilities are equipped to conduct this therapy, early studies have shown promising results in treating various diseases.
Nancy and Jeff Stack, reflecting on their daughter's transformative experience, hope the Gene Therapy Initiative will offer hope and more effective treatments for an increasing number of patients suffering from rare genetic diseases, as quoted in the UC San Diego News article.
With the UC San Diego Gene Therapy Initiative seeking to treat diseases where one or more genes are mutated or missing from a person's genome, this groundbreaking step in the field of gene therapy will likely serve as a beacon of hope for those desperately searching for effective treatments and cures across a wide range of conditions.
