4 UW Hindbrain Malformation Research Program

Welcome to the University of Washington Hindbrain Malformation Research Program website.

We study the biology of hindbrain malformations and neurodevelopmental disorders such as Joubert syndrome, rhombencephalosynapsis, pontine tegmental cap dysplasia, and Chudley-McCullough syndrome to advance our understanding of brain development and improve the lives of families affected by these conditions. Identifying the causes of these disorders will provide better diagnostic and prognostic information to families and, we hope, lead to better treatments in the future. Please contact us for more information or to participate in our research.

Assist our research with your prenatal pregnancy imaging

As part of our ongoing research studies, we are trying to improve prenatal diagnosis of Joubert syndrome. We intend to compare imaging studies (ultrasound and fetal MRI) from pregnancies affected by Joubert syndrome and pregnancies unaffected by Joubert syndrome to identify the most accurate imaging features for diagnosis. If you have had prenatal imaging of affected or unaffected pregnancies and would like to participate, please contact usat (206) 616-3788 or joubert@uw.edu. Thank you!

Current percent of solved cases: 65%

Joubert syndrome is a “ciliopathy” because all of the Joubert syndrome genes seem to be involved with an important cellular structure called the primary cilium. The primary cilium acts as an antenna for most cells in the body, allowing the cells to detect the environment outside the cell and react to it. This diagram of a primary cilia represents the percent of “solved” Joubert syndrome cases, those where we have identified the mutations in the gene responsible for causing the disorder in that particular patient.


We're happy to report the identification of a new Joubert syndrome-associated gene, ARMC9, which accounts for ~1% of JS. At least 35 genes are now associated with JS, explaining the cause of ~70% of families in the UW cohort.

We will continue to work to identify the genetic causes in all people with JS and to figure out the details of how the genetic differences lead to the brain and other organ defects. In the long run, this information will improve the lives of people with JS and their families.

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