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New Center to Address Rare Diseases



UCLA CTSI News Archive


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 Healthsupported 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. Dr. Nelson, co-leader of the Precision Health program for UCLA CTSI, serves as the center director.

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.

To learn more, read the full story in the UCLA press release.