The UCSF research will examine the issue from three vantage points. The first will be a partnership with the California Department of Public Health (CDPH) to test blood drops previously collected from 1,400 children statewide who received standard newborn screening, to determine whether exome sequencing would be more accurate and also whether it provides insights that could lead to improved newborn screening, care and treatment.
My hope is that this will give us solid information on the specificity of gene testing, versus standard biochemical testing, for the disorders we are already screening for, said Robert Nussbaum, MD, who leads the UCSF Division of Medical Genetics and holds the Holly Smith Distinguished Professorship in Science and Medicine at UCSF. In addition, some of the disorders we pick up during screening are chemical abnormalities, but we dont know whether they will actually cause problems for the child. Wed like to know whether there is something in the childrens genes that determines whether these abnormalities actually will cause disease.
The second project will offer genetic testing to patients in a UCSF immune system disorders clinic run by Jennifer Puck, MD, a pediatrician in the UCSF Benioff Childrens Hospital whose research laboratory pioneered the current newborn test for Severe Combined Immunodeficiency (SCID). Parents will be asked to give informed consent for this arm of the project.
While there are several known genetic mutations that lead to the immune disorder, Pucks original test simply looks at a marker of whether children lac
|Contact: Kristen Bole|
University of California - San Francisco