Friday, March 22

UCLA researchers describe methods for diagnosing diseases using genetics


Stanley Nelson and Christina Palmer are principal investigators of the UCLA clinical site in the Undiagnosed Disease Network. They discussed their research in rare diseases in honor of rare disease day on Tuesday with the UCLA community. (Angelina Ruiz/Daily Bruin)

Stanley Nelson and Christina Palmer are principal investigators of the UCLA clinical site in the Undiagnosed Disease Network. They discussed their research in rare diseases in honor of rare disease day on Tuesday with the UCLA community. (Angelina Ruiz/Daily Bruin)


Two researchers from a UCLA clinical site explained the genetic approach to diagnosing rare diseases to about 50 UCLA students and faculty members Monday.

In honor of Rare Disease Day, Stanley Nelson and Christina Palmer, principal investigators of a UCLA clinical site, discussed how UCLA participates in the Undiagnosed Diseases Network. UCLA is one of seven clinical sites in the UDN, a network of researchers who study rare diseases and introduce further research possibilities based on a team science approach.

Team science is a collaborative research approach that is based on the overall contribution of the network, which includes clinicians, scientists, genetic counselors and other experts, Palmer said. For example, clinical sites such as UCLA provide patient evaluations while other sites act as laboratory cores that provide DNA sequencing.

Under the UDN, UCLA has worked with 63 patients with rare diseases. The network approach allows patients and physicians to seek out other individuals within the network who may be working with the same disease, Nelson said.

Lab investigations can also address a broad spectrum of rare diseases and increase the speed of testing for disease-specific concerns, Nelson said.

Palmer said patients must go through a comprehensive application process to be evaluated by the UDN. Each patient has to demonstrate that their rare disease has gone through extensive prior evaluation and submit other medical information.

Palmer added some diseases the UCLA researchers study include neurological diseases.

Nelson said the UDN uses genome sequencing in their research, which is done at UCLA prior to clinical evaluation. Sequencing patients’ DNA before evaluating them can present ethical limitations.

“This can overwhelm patients with variants that might not be clinically relevant,” Palmer said. “There exists a potential for unnecessary tests and possible risks with related procedures, (and) patients wait longer for clinical visit.”

Researchers gather phenotypes – physical characteristics of participants – from medical records, not in-person evaluations, Nelson said. Unlike other disorder researchers, who group patients with similar characteristics, UCLA researchers do not intentionally gather patients with similar phenotypes.

Palmer said clinical evaluations start after genome sequencing. Evaluations take one to five days and may include consultations with specialists and other medical tests.

As a clinical site, UCLA does not focus on treatment or symptom management of rare diseases, Nelson said. Although UCLA researchers aim to diagnose patients, doing so is difficult and not necessarily included in the patient follow-up.

About 70 percent of the patients UCLA is working with are children. Researchers have diagnosed five of 35 completed cases.

Siena Salgado, a third-year human biology and society student who attended the talk, said she had previously studied the sociological impacts of the UDN’s structure. She said she was interested in the possible ethical implications of the UDN’s genetic-based approach.

Michael Gorin, an ophthalmology and human genetics professor who attended the event, said he thinks the UDN becomes a compensatory process that catches up to other countries with health care systems that already have vested interests in genetic diseases.

“The psychological benefit for patients to know why they have a disease is powerful,” Gorin said. “To be able to tell someone we know what genetic variance is causing this disease, even if we can’t treat it … removes guilt, uncertainty (and) gives people hope.”

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