V. Reid Sutton, MD

Education

Personal Statement

I have committed myself to advancing scientific knowledge and patient care by applying my clinical skills to research questions. I have employed my 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. I have done this in independent studies of my own design as well as many instances of collaborative research with colleagues engaged in the laboratory investigation of Mendelian diseases.

I have 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. I am 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 my role as the Medical Director of the Biochemical Genetics Laboratory at Baylor Genetics, we have developed large-scale metabolomic profiling for the screening and diagnosis of inborn errors of metabolism and our 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.

I am 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 am also the administrative PI for this project.

Interests:

• Osteogenesis imperfecta/brittle bone disease
• Achondroplasia
• Creatine transporter deficiency
• Aicardi syndrome
• Goltz syndrome
• Inborn Errors of Metabolism
• Skeletal dysplasias
• Robinow Syndrome
• White-Sutton Syndrome

Genetics Clinics

Baylor Genetics

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The boy was dying. Zebrafish helped save his life 

Organization

Selected Publications

Tosi LL, Floor MK, Dollar CM, Gillies AP; Members of the Brittle Bone Disease Consortium, Hart TS, Cuthbertson DD, Sutton VR, Krischer JP "Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.." Orphanet J Rare Dis.. 2019 14 : 23.

White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, (...), Sutton VR, Lupski JR, Carvalho CMB "WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.." Am J Hum Genet.. 2018 102 : 27-43.

Eldomery MKI, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, (...), Sutton VR "MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia and infantile death.." Genome Med. 2017 8 : 106.

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, (...), Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR "Resolution of disease phenotypes resulting from multilocus genomic variation.." N Engl J Med.. 2017 376 : 21-31.

VIICTR Publications List

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