UCLA research prioritizes hard-to-treat patients through rare disease innovation

At the UCLA California Center for Rare Diseases (CCRD), “rare” is a word that includes over 7,000 conditions and affects 3 million Californians. With hundreds of thousands of patients and families touched by rare diseases nationwide, CCRD, directed by Stanley Nelson, MD, has leveraged UCLA’s longstanding expertise in the field to become a leader in rare disease research, diagnosis and treatment.

Most rare diseases have no known treatment and patients often live with unclear or delayed diagnoses. Translational research, while a critical driver of innovative therapies, is especially challenging due to small patient populations. At CCRD, however, investigators draw on deep multidisciplinary expertise to improve diagnosis, disease understanding and treatment. This work includes clinical trials, specialized registries, genetic testing and novel therapeutic approaches.

“Roughly eighty percent of rare diseases are genetically based,” explains Dr. Nelson, a pediatrician with expertise in Duchenne muscular dystrophy and genetic rare diseases. “We are working in real time to not only identify our patients’ diseases but potentially open a path forward for treatment. Advances in care are not just possible; they are happening within our patients’ lifetimes.”

The breadth of rare disease expertise at UCLA Health makes our hospitals and clinics a unique hub for patients with complex and difficult-to-treat conditions throughout a patient’s lifespan. Current and future patients can reach out if they believe their condition may fall under one of CCRD’s rare disease-branded clinics, which cover genetics, cancer genetics, immunodeficiency and immune dysregulation, musculoskeletal disorders, neuromuscular disorders, neurogenetics, neurodevelopment, and cardiovascular conditions.

Last month, the Multidisciplinary Bloom Syndrome Clinic at UCLA made headlines as the first-ever clinic of its kind in the United States, led by Vivian Chang, MD. The syndrome is extremely rare and, as is the case with many rare diseases, treatment involves the intersection of many experts. Thanks to this new clinic and its team of ten specialty experts in hematology-oncology, genetics, endocrinology, allergy-immunology, dermatology and gastroenterology, patients will be able to travel to a single place where they can receive coordinated care in the same day.

This March, another story of rare disease treatment featured three siblings whose one-in-a-million genetic disorder qualified them for an investigational gene therapy trial led by Donald Kohn, MD, a physician-scientist and distinguished professor at UCLA College and the David Geffen School of Medicine at UCLA. After receiving treatment and returning to UCLA for a follow-up in April 2025, it was clear how significantly the gene therapy had transformed their lives.

In 2025, the Center for Duchenne Muscular Dystrophy at UCLA, where Dr. Nelson serves as co-director, helped secure FDA approval for a gene therapy called Elevidys. The treatment, while not a cure, has shown significant promise, and UCLA has initiated human subject trials to identify ways to improve muscle gene therapy funded by the CIRM and Department of Defense. UCLA Health has treated dozens of qualifying patients, which is ushering in a new era of gene therapy to replace missing genes for hundreds of diseases under clinical trials or in development across the world.

With these meaningful wins and promising developments, Dr. Nelson hopes that the CCRD’s findings will reach far beyond UCLA. Ultimately, he wants to help make complete diagnosis for rare disease routine – even if a condition’s treatment has yet to be developed. Complete diagnosis provides a huge benefit to patients and their families, and opens the door to the possibility of genetic therapies.

“Most physicians nationwide aren’t trained to recognize rare diseases and are ill informed about genetic therapies” he says. “One of our goals is to make rare disease care and gene therapy more generally understood. As the patient population that has been treated with permanent gene therapies grows, there can be greater recognition of their special needs. Advancing translational genomics into routine clinical practice is a key aspect of our aspiration to develop new treatments, obtain regulatory approval, and stimulate adoption. UCLA Health is well poised to maintain a leadership role.”

Already, more than 60 new disease genes have been found by collaborative efforts that include Dr. Nelson’s UCLA lab. Still, it is the incredible network of centers, scientists, providers, researchers and patients themselves that makes game-changing progress possible.

“Each of us holds a piece of an extraordinarily complex puzzle that requires incredible precision to assemble – but we’re doing it,” says Dr. Nelson. “I’ve seen first-hand how what we do here in precision medicine can change the trajectory of a patient’s life. It’s a privilege to work in this field alongside such skilled colleagues.”