JOUBERT SYNDROME - Key Persons

Arianna is a graduate student in the Doherty lab, joining the lab in summer 2016. She graduated in 2015 from the University of California, Irvine with a BS in Biological Sciences and is currently part of the Molecular Medicine and Mechanisms of Disease (M3D) PhD program. Her thesis project will focus on the neurodevelopmental aspect of Joubert syndrome and will involve in vitro and in vivo approaches which will contribute to the lab's goal of identifying the underlying mechanism of Joubert syndrome. Outside of the lab, Arianna likes to explore the Woodland Park Zoo, take her dog to the various dog parks around Seattle, and eat at new places with friends.

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. 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. Dr. 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.

Job Titles:

• Director of Medical Genetics at Seattle Childrens' Hospital

Dr. Glass is the director of Medical Genetics at Seattle Childrens' Hospital and the director of the Alaska Genetics & Birth Defects Program. He is also a Professor of Pediatrics and Medicine at the University of Washington School of Medicine. Seattle Children's programs provide virtually all of the pediatric genetic services for the states of Washington and Alaska and as needed, serve the entire age spectrum by referral. Dr. Glass is an experienced genetics clinician who besides coordinating and conducting clinical services in multiple sites, undertakes specialized consultative services for neurogenetics, Joubert syndrome and other ciliopathies, skeletal dysplasia and cardiovascular genetics patients. He also conducts research in to the developmental bases of congenital anomalies in his laboratory, which has a long-established role as an important NIH funded nationwide core tissue resource for multiple scientific researchers. Dr. Glass also collaborates on a long standing research effort of the division in a successful project into the molecular bases of Joubert syndrome and related disorders of the cerebellum, now led by another division member. This group has been instrumental in the discovery of several novel Joubert syndrome genes and the developmental biology of these genes as well as improving the accuracy of diagnosis and quality of care for this group of patients.

Job Titles:

• Senior Research Scientist

Ian Phelps is the senior research scientist in the Doherty lab, joining in 2008. During the first few years in the lab, he worked on the role of the cc2d2a gene in the zebrafish, focusing mostly on the retina. Currently, he's sequencing all of the genes associated with Joubert syndrome in the entire UW cohort of patients. For this project, he's learning to use next generation sequencing machines and write computer programs to analyze the data. In his spare time, he keeps the lab organized and supervises other lab members. Outside the lab, he likes to get outdoors and enjoy all that Washington has to offer, including backpacking, snowboarding and surfing. Aside from being a die-hard Packers fan, Ian is also a master of nature photography and facial hair art.

Job Titles:

• Research Coordinator for the UW Hindbrain Malformation Research Program

Jennifer is the research coordinator for the UW Hindbrain Malformation Research Program. Much of her time is spent recruiting, enrolling, and providing information about research projects to families and clinicians. In addition, she collects and organizes all of the clinical data for genotype-phenotype and outcomes studies and performs statistical analyses. Jennifer joined the group in 2010. Her prior experience includes research in the fields of perinatal and reproductive health and osteoporosis. Jennifer has a Masters of Public Health in Epidemiology from the University of Michigan and a BS in Biology from Syracuse University. In her spare time, she enjoys exploring the Pacific Northwest with her husband and two children and perfecting her baking skills.