Research
Emphasis Areas

Research Affiliates

Core Services
Behavioral Science Core

Brain Imaging Core

Cellular Morphology Core

Genetics Core

Infant Primate Research Laboratory Core

Instrument Development Laboratory Core

Daniel A. Doherty, M.D., Ph.D.

Assistant Professor of Pediatrics
Research Affiliate, Center on Human Development and Disability
ddoher@u.washington.edu
206-987-2489
University of Washington, Box 359300, M2-8
Seattle, WA 98195-9300

Dr. Doherty's research and clinical focus is hindbrain malformation syndromes, such as Joubert syndrome. In particular, his goal is to improve the specificity of pre- and post-natal diagnosis, identify genetic causes of the disorders, and evaluate the outcomes for individuals with hindbrain malformations. In addition, Doherty is researching better regional access for immigrants and refugees with developmental disabilities and community access to child health to improve service delivery to children with developmental disabilities in non-English speaking families.

Research involves the use of ultrasound and magnetic resonance imaging to make a prenatal diagnosis in pregnancies (after 17 weeks’ gestation) at risk for Joubert syndrome. Doherty and colleagues also screen subjects for AHI1 mutations, which can cause retinal dystrophy and renal cystic disease, by a combination of haplotype analysis and sequencing of the gene and for the homozygous NPHP1 deletion by sequencing and marker analysis.

Daniel Doherty's web page

University of Washington • Center on Human Development and Disability Box 357920 • Seattle WA 98195-7920 USA • 206-543-7701 •chdd@u.washington.edu