Navigation Links
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.

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

Related biology news :

1. BMC awarded W.K. Kellogg grant to increase breastfeeding rates in several southern states
2. Lawrence Livermore Lab awarded $5.6 million to develop next-generation neural devices
3. Global health grant from the Bill & Melinda Gates Foundation awarded to the University of Surrey
4. UTHealths Anil Kulkarni awarded Fulbright Scholarship
5. UH awarded $2 million for new engineering professor
6. Nine young scientists awarded by the Genetics Society of America for fruit fly research
7. EMBO Gold Medal 2014 awarded to Sophie Martin
8. Beaumont awarded grants to study sports-related injury treatment, improve recovery
9. Kessler Foundation awarded Department of Defense grant for spinal cord injury research
10. Five scientists awarded prestigious Heineken Prizes
11. TGen Dr. Michael Barrett awarded $200,000 grant at national cancer conference in San Diego
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
UCLA awarded $7 million to unravel mystery genetic diseases
(Date:5/16/2017)... --  Bridge Patient Portal , an enterprise patient ... Systems , an electronic medical record solutions developer ... a partnership to build an interface between the ... products, including Centricity Practice Solution (CPS), Centricity Business ... integrations will allow healthcare delivery networks using GE ...
(Date:4/18/2017)...  Socionext Inc., a global expert in SoC-based imaging and computing ... M820, which features the company,s hybrid codec technology. A demonstration utilizing ... Inc., will be showcased during the upcoming Medtec Japan at Tokyo ... Las Vegas Convention Center April 24-27. ... Click here for an image ...
(Date:4/11/2017)... , April 11, 2017 Crossmatch®, ... secure authentication solutions, today announced that it has ... Advanced Research Projects Activity (IARPA) to develop next-generation ... program. "Innovation has been a driving ... Thor program will allow us to innovate and ...
Breaking Biology News(10 mins):
(Date:5/18/2017)... ... May 17, 2017 , ... Cognition Corporation ... commercialization, has just released version 9.0 of the Cognition Cockpit platform. , “Our ... Cockpit,” says David Cronin, CEO of Cognition. “We’re thrilled to finally be able ...
(Date:5/18/2017)... ... May 17, 2017 , ... G-CON ... their Chief Executive Officer, Maik Jornitz, was recognized as a Top 10 Industry ... celebrates 100 individuals “involved in bettering the pharma industry and bringing life-changing medicines ...
(Date:5/16/2017)... ... May 16, 2017 , ... ... global Genedata Screener User Group Meetings, which will be held in ... to share best practices in screening data analysis and learn about the latest ...
(Date:5/16/2017)... Village, CA (PRWEB) , ... May 16, 2017 ... ... personalized medicine technology and cancer diagnostics, has released its ClearID Lung Cancer blood ... altered in lung cancer, this new test is designed to quickly and accurately ...
Breaking Biology Technology: