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UCLA awarded $7 million to unravel mystery genetic diseases
Date:7/1/2014

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.


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Contact: Elaine Schmidt
eschmidt@mednet.ucla.edu
310-794-2272
University of California - Los Angeles Health Sciences
Source:Eurekalert  

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