Daniel A Doherty, MD, PhD

Daniel A Doherty, MD, PhD

Specialties

"Improving the lives of patients and understanding human brain development are the parallel goals that motivate my work. The excitement of identifying the genetic cause of a brain malformation is just the beginning. Understanding the disease mechanism and translating that knowledge into improved information and treatments for patients is the real payoff."

  • Biography

    Daniel A. Doherty, MD, PhD, research interests focus on hindbrain malformations as a way to understand human brain development and common disorders such as intellectual disability, autism, ataxic cerebral palsy and even mental health disorders such as schizophrenia. The hindbrain regulates basic functions (level of consciousness, heart rate, respiratory rate), coordinates balance, limb and eye movements, as well as having possible roles in cognition and emotional regulation.

    His group uses a variety of genetic techniques (SNP mapping, array CGH, and high throughput sequencing) to identify the genes responsible for hindbrain malformation disorders such as Joubert syndrome. Identifying the genes responsible for a disorder immediately translates into molecular diagnostic testing, and detailed work on genotype-phenotype correlations improves diagnostic, prognostic and medical management information for patients. In addition, Dr. Dohertys group and his collaborators use the disease genes to dissect the molecular mechanisms of normal and abnormal brain development in vitro and in animal models. The human hindbrain is a fascinating system in which to study the role of basic developmental processes (spatially restricted gene expression to define positional information, organizing centers, morphogenetic movements, cell-cell and long-range signaling, cell migration and axon guidance) in human disease. Dr. Dohertys clinical interests complement the research interests of his group. He cares for children with all types of central nervous system abnormalities including Joubert syndrome, other hindbrain malformations, agenesis of the corpus callosum, cortical malformations, hydrocephalus, spina bifida, intellectual disability and cerebral palsy. He also provides prenatal counseling to women carrying fetuses with abnormal CNS imaging findings to provide a pediatric perspective on these conditions.

    Board Certification(s)

    Developmental-Behavioral Pediatrics

    Education

    University of California San Francisco School of Medicine, San Francisco, CA

    Residency

    University of Washington School of Medicine, Seattle, WA

    Fellowship

    University of Washington School of Medicine, Seattle, WA

    Clinical Interests

    Care of children with brain malformations; prenatal counseling for fetal brain malformations; cultural factors in medical care; Joubert Research Program

    Research Focus Area

    Neuroscience / Neurodevelopment, Translational Research

  • Related Resources

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  • Awards and Honors

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  • Publications

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