V. Reid Sutton

Director, Inborn Errors of Metabolism Service, Texas Children's Hospital

Dr. Sutton has committed himself to advancing scientific knowledge and patient care by applying his clinical skills to research questions. He has employed his knowledge and expertise in the diagnosis of genetic syndromes, dysmorphology, genetic mechanisms of disease, inborn errors of metabolism and skeletal dysplasias to answer clinical research questions. He has done this in independent studies of his own design as well as many instances of collaborative research with colleagues engaged in the laboratory investigation of Mendelian diseases.

Dr. Sutton has made contributions through gene discovery and defining the phenotypic spectrum of a number of syndromes including Uniparental Disomy for Chromosome 14, Aicardi, Goltz (Focal Dermal Hypoplasia), Ankyloblepharon-Ectodermal Dysplasia Clefting (AEC) and Robinow and White-Sutton syndrome. He is the clinical geneticist for the Baylor-Hopkins Center for Mendelian Genomics which is an NIH/NHGRI-funded study to discover the genetic basis of Mendelian disorders.

In his role as the Medical Director of the Biochemical Genetics Laboratory at Baylor Genetics, they have developed large-scale metabolomic profiling for the screening and diagnosis of inborn errors of metabolism and their laboratory is the first in the world to offer metabolomic profiling on a clinical basis, which has led to both advances in care and new discoveries.

He is the principal investigator for a multi-site longitudinal study of OI that is funded by the NIH (NCATS, NICHD, NIDCR and NIAMS) as part of the Brittle Bone Disorders Consortium of the Rare Disease Clinical Research Network and is also the administrative PI for the project.