Patients with these disorders exhibit various combinations of congenital malformations, overgrowth, birthmarks, intellectual disability, and other structural and functional abnormalities. Over the past 20 years, the laboratory has performed clinical and molecular delineation of a host of disorders, including malformation syndromes, such as Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, McKusick-Kaufman syndrome, Lenz microphthalmia syndrome, oculofaciocardiodigital syndrome and others and overgrowth disorders, including Proteus syndrome, fibroadipose overgrowth syndrome, hemihyperplasia with multiple lipomatosis, CLOVES syndrome and others. The laboratory's rare disease group uses an integrated clinical-molecular approach to heritable disorders, focusing on pleiotropic malformation syndromes and mosaic overgrowth disorders. The goals of this research program are to improve the medical care of patients affected by these disorders, provide generalized knowledge about the broad field of genetic disease and better understand basic mechanisms of normal and abnormal human development and physiology. The laboratory is currently engaged in studies in two main areas: rare disorders of development and overgrowth, and new approaches to hypothesis-generating clinical genomics research. The Precision Genomics Section research program focuses on understanding the relationship of genomic variation to health and disease. He was recently elected to the National Academy of Medicine of the National Academy of Sciences and has been elected to be the president of the American Society of Human Genetics for 2019. He served on advisory panels for the World Trade Center and Hurricane Katrina victim identification efforts. Biesecker serves as an editor or board member for four biomedical journals, is an advisor to the Illumina Corporation and was a member of the board of directors for the American Society of Human Genetics. He co-directs a Clinical Laboratory Improvement Ammendments (CLIA)-certified molecular diagnostic laboratory within NHGRI.ĭr. In addition, he developed the ClinSeq®program, which has consented more than 1,000 subjects for whole-genome sequencing with the interpretation and return of results. His laboratory has elucidated the etiology and natural history of numerous diseases, including Proteus syndrome, PIK3CA-related overgrowth syndrome, TARP syndrome, oculofaciocardiodental syndrome, Lenz microphthalmia syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome, Pallister-Hall syndrome and Amish microcephaly, and has contributed to the discovery of many others. He received his medical training at the University of Illinois, training in pediatrics at the University of Wisconsin, and in clinical and molecular genetics at the University of Michigan. He uses genetic and genomic technologies to study the etiology of inherited disorders. Biesecker is a clinical and molecular geneticist and is the chief of the Center for Precision Health Research at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health.
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