Newswise — Oakland, CA (November 16, 2016) – A team at the Oakland and San Francisco campuses of UCSF Benioff Children’s Hospitals, UCSF, and UC Berkeley have been awarded $1.2 million by California Initiative to Advance Precision Medicine (CIAPM) to help advance precision medicine in the state.
Major children’s hospitals such as the UCSF Benioff Children’s Hospitals often see patients who have unusual and severe inborn conditions that appear to be genetic, but the gene responsible for the disorder is unknown. The CIAPM-supported project, “Full Genome Analysis of Children to Guide Precision Medicine” led by Dr. David Martin of the Children’s Hospital Oakland Research Institute (CHORI), will help advance precision medicine by developing methods that improve our ability to identify mutations that cause inherited diseases, and to find the cause of such difficult-to-diagnose genetic conditions.
Team members will leverage a new method for genome sequencing that provides a more complete picture of abnormalities in an individual’s DNA. This “full genome analysis” may identify mutations in known genes that are invisible using standard methods of genome sequencing. Some mutations will be difficult to identify if they have not previously been described: to speed up the process of identification the team will partner with other international teams, with the long-term goal of creating a catalogue of all DNA variants that can cause human disease.
This project will actively seek to include racially and ethnically diverse patient groups, which have traditionally been under-recruited for genetic analysis, thus adding novel and important information to improve diagnosis and care for the population at large. “This project will directly benefit patients and families by solving medical mysteries that have required lengthy diagnostic odysseys with uncertain outcomes,” says Dr. David Martin of the Children’s Hospital Oakland Research Institute. “The answers produced by this new analysis will give patients and their doctors insights that will permit appropriate management of the condition and thereby reduce the costs of care. The project will also, through collaboration with other centers, expand the number of conditions in which we will be able to deliver a definite diagnosis.”
“This project is incredibly exciting because of its innovative approaches to genomic analysis,” says UCSF’s Ophir Klein. “By bringing together clinical genomics efforts at both BCH campuses, it is an example of the exciting synergies that we hope to achieve as we build a unified medical genetics division.”
The goal of CIAPM is to help build the infrastructure and assemble the resources necessary to advance precision medicine-oriented data, tools and applications in California. “These grant winners will harness the power of advanced computing to better treat and prevent diseases,” said Governor Edmund G. Brown Jr.
About the California Initiative to Advance Precision Medicine (CIAPM):The California Initiative to Advance Precision Medicine (CIAPM) was launched by the Governor in 2015, and received additional funding from the State of California under an appropriation made in the FY 2016/17 budget. UC Health and UCSF host the initiative and work with the Governor’s Office of Planning and Research (OPR) to develop, implement and evaluate the six demonstration projects funded in 2016.For more information, visit www.CIAPM.org
About UCSF Benioff Children’s Hospitals and CHORI:UCSF Benioff Children’s Hospitals are among the nation’s finest pediatric medical centers, according to U.S. News & World Report’s annual rankings. Their expertise covers virtually all pediatric conditions, including cancer, heart disease, neurological disorders, pulmonology, diabetes and endocrinology, as well as the care of critically ill newborns. The nonprofit UCSF Benioff Children’s Hospitals are committed to providing outstanding care to children in the Bay Area, California and beyond. They are known nationally and internationally for basic and clinical research, and are at the forefront of translating research into interventions for treating and preventing diseases. The San Francisco campus is part of UC San Francisco, whose schools of Medicine, Pharmacy, Dentistry and Nursing lead the nation in research grants from the National Institutes of Health. The Oakland campus has a highly regarded pediatric residency program and is one of only five ACS Pediatric level I trauma centers in California.
UCSF Benioff Children’s Hospital Oakland’s research arm, Children’s Hospital Oakland Research Institute (CHORI), is internationally known for its basic and clinical research. CHORI is at the forefront of translating research into interventions for treating and preventing human diseases. CHORI has 250 members of its investigative staff, a budget of about $50 million, and is ranked among the nation’s top ten research centers for National Institutes of Health funding to children’s hospitals. For more information, go to www.childrenshospitaloakland.org and www.chori.org.
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