New center will reveal answers to patients' unanswered questions about rare diseases

Dr. Stanley Nelson (second from left) and his colleagues focus on the diagnosis and treatment of rare genetic diseases.
Dr. Stanley Nelson (second from left) and his colleagues focus on the diagnosis and treatment of rare genetic diseases.

When the California Center for Rare Diseases at UCLA opens its doors, it will become a destination of hope for patients and their families who have struggled to find a diagnosis and treatment for their uncommon genetic illnesses.

The center is partly an outgrowth of the Undiagnosed Diseases Network at UCLA. UCLA is among 15 institutions nationwide within the National Institutes of Health-supported network, which has been engaged in research studies to improve and accelerate the diagnosis of rare and undiagnosed conditions. The UCLA site is led by Stanley Nelson, MD, Julian Martinez, MD, PhD, and Christina Palmer, PhD.

“Families live without knowing what is wrong, but when we can figure out their exact genetic mutation, we can develop strategies that may make it possible to treat the disease,” says Dr. Nelson, director of the new center.

Rare diseases are defined as chronic diseases that affect only 0.05 percent or fewer of the population. It is estimated that in California there are more than 3 million patients with a rare disease; most have no known treatment. Patients can go for years — even their entire lives — without a diagnosis. While the majority of rare diseases have a genetic basis, diagnostic genetic testing remains largely inaccessible to most Californians. Moreover, most general physicians and even specialists are not adequately trained to interpret genomic testing.Dr. Nelson has a personal connection to the study of rare and difficult to treat diseases. When his son was diagnosed with Duchenne muscular dystrophy, a rare genetic disease, few laboratories were focused on developing a treatment.

Dr. Nelson reworked his career to build the Center for Duchenne Muscular Dystrophy. With colleagues Melissa Spencer, PhD, and M. Carrie Miceli, PhD, this team at UCLA has made important contributions towards improved care and new treatments, including work on novel RNA therapies to skip the damaged DNA and let proteins be built normally.

“Part of the reason we jumped in with both feet is because of the tremendous opportunities that were apparent for Duchenne,” he says.

The California Center for Rare Diseases — part of the Institute for Precision Health at UCLA — will offer to patients new opportunities for diagnosis and to find an appropriate therapy to treat their conditions, which also may include neurodevelopmental, bone and immunological rare diseases. Patients may receive whole genome sequencing as well as RNA sequencing so scientists can confirm a diagnosis; in some instances this may lead to a custom therapy or involvement in clinical trials.

“Telling a parent why his or her child is sick is very meaningful and necessary, but it can be hollow if we don’t have the next step, which is what to do to repair it,” Dr. Nelson says.

Another benefit to the center’s focus on identifying rare genetic diseases and finding appropriate therapies may be the off-label use of drugs that currently are used for other disorders and improvement in treatments for thousands of other more common diseases.

The center’s ultimate goal is to serve as a model for how doctors and hospitals might treat rare genetic diseases in the future. “In the future of genetic counseling, we hope that patients could get a comprehensive genetic test as easily as they can get an x-ray,” says Rebecca Signer, genetic counselor and coordinator for the center.