James T Bennett, MD, PhD

James T Bennett, MD, PhD

Specialties

"Applying novel diagnostic approaches for specific genetic diagnosis in children with vascular anomalies and mosaic disorders "

  • Biography

    James Bennett, MD, PhD, is an associate professor in the Department of Pediatrics, Division Genetic Medicine, and and adjunct associate professor in the Department of Laboratory Medicine and Pathology. His clinical and research focus is on vascular anomalies and other genetic disorders caused by post-zygotic mosaicism.

    Board Certification(s)

    Medical Genetics, Clinical Molecular Genetics
    Medical Genetics, Clinical Genetics (M.D.)

    Education

    New York University School of Medicine, New York, NY

    Residency

    University of Washington, Seattle, WA

    Clinical Interests

    Vascular anomalies

    Mosaic Disorders

    Application of Genetic Testing to rare pediatric diseases

    Research Description

    Almost all genetic sequencing is performed from blood or saliva derived DNA, which implicitly assumes that the genomes of blood cells are the same as every other cell in the body. Because errors occur in DNA replication with every division, all individuals carry genetic variants that are not present in every cell in the body. This has major implications for diagnosis of children with genetic disorders, since pathogenic mutations that are absent, or present at low levels in the blood will not be detected by current standard methods.

    To address this, the Bennett lab develops methods for accurate detection of these "hidden" low-level mosaic variants, with a major focus on vascular anomalies. We are also interested in measuring the "normal" rate and distribution of somatic variation in individuals across their lifespan.

    Research Focus Area

    Somatic Mosaicism, vascular anomalies

  • Related Resources

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  • Publications

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  • Clinical Trials and Research

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