UCSD Begins Gene Therapy Initiative For Research On Rare Diseases

SAN DIEGO, CA — UC San Diego Wednesday began the Gene Therapy Initiative to research rare diseases and find gene-based therapies to help those with genetic disorders.

Funded in part by a $5 million gift from the Nancy and Geoffrey Stack Foundation, UCSD researchers will look into genetic diseases -- many of which are considered rare, held by fewer than 200,000 people in the United States. The rarity of such diseases and disorders makes effective treatments far and few between owing to fewer patients for medical research, according to a university statement.

"We are grateful to Nancy and Jeff Stack for their visionary investment to establish the Gene Therapy Initiative, which will drive ground- breaking research and discovery to help children and adults who suffer from a range of genetic conditions, many of which are rare and lack effective treatments today," UCSD Chancellor Pradeep Khosla said.

When the Stacks' daughter Natalie was less than a year old, she was diagnosed with cystinosis, a genetic defect that causes damage to the kidneys, liver and other organs, and was considered terminal at the time.

As a result, the couple founded the Cystinosis Research Foundation. They also provided financial support to UCSD to fund cystinosis research -- initially spearheaded by the late Dr. Jerry Schneider, and continued by Stephanie Cherqui, professor of pediatrics at the UCSD School of Medicine and chair of the Cystinosis Stem Cell and Gene Therapy Consortium.

UCSD researchers were able to develop a slow-release version of a medication to help manage cystinosis, enabling patients to take the dosage every 12 hours, rather than every six hours, the university said.

More recently, Cherqui developed a stem cell gene therapy approach to cystinosis. Natalie, 32, is thriving with a career in social work and is busy planning her wedding in the fall.

"Our hope is that this opens the door to more effective therapies for those dealing with rare disorders and diseases," Nancy Stack said. "We believe that the new Gene Therapy Initiative will give others hope, just like we received hope for our daughter thanks to new and better treatments."

The initiative will be led by Cherqui, with Alysson Muotri, a professor in the departments of Pediatrics and Cellular and Molecular Medicine at the UCSD School of Medicine.

Researchers involved with the initiative are seeking to treat genetic diseases where one or more genes are either mutated or missing altogether from a person's genome.

"Gene therapy allows us to restore faulty genes to alleviate and even cure the diseases associated with each mutation," Muotri said. "It is a sophisticated, highly personalized form of treatment that technology has only recently allowed humanity to harness, and the Stacks' support will allow us to explore the use of gene therapy to benefit even more patients who are so desperately looking for hope."

According to the researchers, while the mechanisms used to leverage gene therapy vary, there are two current pathways that all gene therapies follow:

-- Stem Cell Gene Therapy: Also known as ex vivo gene therapy, this pathway corrects the genetic disease in a person's stem cells, a process done outside the body. The "corrected" stem cells are then reintroduced into the patient.

-- Gene Therapy: Also known as in vivo gene therapy, this pathway uses a delivery vector, such as fatty compounds or viruses that can introduce new genetic code to another organism's DNA to deliver the corrected gene(s) or enzyme(s) that fix the damaged genes responsible for genetic illnesses.

"UC San Diego has the vision, remarkable scientists and an incredible reputation for medical research," Jeff Stack said. "When you put all of those factors together with philanthropy to create an initiative like this, we hope that it will propel medicine forward in many ways that we may not even be able to imagine."

— City News Service