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UCLA Awarded $7 Million to Unravel Mystery Genetic Diseases

Published: Friday, July 04, 2014
Last Updated: Friday, July 04, 2014
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UCLA tackle difficult-to-solve medical cases and develop ways to diagnose rare genetic disorders.

The David Geffen School of Medicine at UCLA is one of six institutions nationwide chosen by the National Institutes of Health to join the agency's efforts to tackle the most difficult-to-solve medical cases and develop ways to diagnose rare genetic disorders.

Part of a $120 million initiative called the Undiagnosed Diseases Network, the $7.2 million grant to UCLA will support comprehensive "bedside-to-bench" clinical research to aid physicians in their efforts to give long-sought answers to patients living with mystery diseases.

“Undiagnosed diseases take a huge toll on patients, their families and the health care system,” said Katrina Dipple, a co-principal investigator on the UCLA grant with Stanley Nelson, Christina Palmer and Eric Vilain. “This funding will accelerate and expand our clinical genomics program, enabling us to quickly give patients a firm diagnosis and clarify the best way to treat them.”

Despite extensive clinical testing by skilled physicians, some diseases remain unrecognized because they are extremely rare, underreported or atypical forms of more common diseases. An interdisciplinary team of geneticists at each Undiagnosed Diseases Network site will examine and study patients with prolonged undiagnosed diseases.

“A vast number of children and adults suffer from severe, often fatal, undiagnosed disorders,” Vilain said. “This program will enable us to discover new genes causing ultra-rare medical conditions and to identify environmental factors that lead to disease or that interact with genes to cause disease.”

Patients will undergo an intensive weeklong clinical assessment that includes a clinical evaluation, consultations with specialists, and medical tests, including genome sequencing to identify genetic mutations. The team will also evaluate the impact on patients and families of genetic counseling and genomic test results to develop best practices for conveying this information.

The Undiagnosed Diseases Network capitalizes on the strengths of UCLA’s genetic medicine program, particularly its Clinical Genomics Center, which utilizes powerful sequencing technology to diagnose rare genetic disorders. Using a simple blood sample from a patient and both parents, the center can perform a test that simultaneously searches 37 million base pairs in 20,000 genes to pinpoint the single DNA change responsible for causing a patient’s disease. To date, a specific genetic explanation has been identified in a quarter of the cases evaluated with this test, as have a number of novel disease-causing genes.

UCLA is the only facility in the western U.S. and one of only three nationwide with a laboratory that can perform genomic sequence directly usable for patient care, and the university's Medical Genetics Clinic cares for more than 750 new patients a year and offers comprehensive pre- and post-test genetic counseling.

All patient studies will take place at UCLA's Westwood campus, at the Clinical and Translational Research Center of the Clinical and Translational Science Institute.

Network investigators will share genomic and clinical data gleaned from patients with their research colleagues nationwide to enhance the understanding of rare and unknown diseases.


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