Virtual Seminar – Dan Doherty, MD, PhD – “The Joubert Syndrome Hindbrain Malformation: 40 Genes, 1 Cilium, 1 Mechanism?”

Dan Doherty, MD, PhD
University of Washington
Seattle Children’s Hospital

About the Speaker: Dr. Doherty’s 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.

Doherty’s 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, Doherty’s 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. Doherty’s 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.

For Further Information: Contact Teresa Palumbo at 608.263.5837 or palumbo@waisman.wisc.edu

The seminar series is funded by the John D. Wiley Conference Center Fund, the Friends of the Waisman Center and NIH grant U54 HD090256.

For Further Information, Contact: Clark Kellogg at kellogg@waisman.wisc.edu
The seminar series is funded by the John D. Wiley Conference Center Fund, the Friends of the Waisman Center and Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) grant P50HD105353.