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November 20, 2012 2:00 p.m.

Team including UCI pediatrician discovers basis of skull birth defect ยป

Dr. Virginia Kimonis
An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents - including Dr. Virginia Kimonis (pictured), UCI professor of pediatrics - has identified two genetic factors strongly associated with the most common form of premature closure of the skull, or non-syndromic craniosynostosis. The researchers with the International Craniosynostosis Consortium believe the findings may one day lead to prenatal screening and diagnostic tests for this condition or early interventions to prevent it. Results from their study appear in the Nov. 18 issue of the journal Nature Genetics. To help determine the cause, the investigators conducted the first genome-wide association study for the disorder, which involved scanning the entire genome of a group of people with craniosynostosis and comparing it to that of a control group of people without the condition. They identified very strong associations in two areas of the genome, coding for bone proteins known to play a role in skeletal development. Kimonis' lab members are particularly interested in inherited muscle disorders that occur in combination with bone diseases. In October, they reported the first genetically modified mouse that exhibits clinical features of such disorders as Lou Gehrig's disease, Paget's disease, inclusion body myopathy and dementia.

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Related topics: Pediatrics, Kimonis, Research, Craniosynostosis, Health & Medicine, Faculty, Medicine
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