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UCLA awarded $7 million to unravel mystery genetic diseases

The David Geffen School of Medicine at UCLA is one of six institutions nationwide chosen by the National Institutes of Health to join their effort in tackling 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 four-year $7.2 million UCLA grant will enable comprehensive bedside to bench clinical research to support physicians' efforts to give long-sought answers to patients who have been living with mystery diseases.

"Undiagnosed diseases take a huge toll on patients, their families and the health care system," said Dr. Katrina Dipple, a co-principal investigator of the grant with Drs. 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 of the network sites will examine and study patients with prolonged undiagnosed diseases.

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

Patients will undergo an intensive week-long 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 of genetic counseling and genomic test results on patients and families to develop best practices for conveying this information.

The Undiagnosed Diseases Network capitalizes upon 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 test 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 well as a number of novel disease-causing genes.

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

All patient studies will take place on the university campus at the Clinical 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 understanding of rare and unknown diseases.


Contact: Elaine Schmidt
University of California - Los Angeles Health Sciences

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