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.

The University of Washington Hindbrain Malformation Research Program is committed to improving the lives of people with Joubert syndrome (JS) through research. Several years ago, we embarked on a project called "Mortality Matters" to determine the causes of death in people with JS. Very little is known about this subject, so identifying the timing and causes of death will improve healthcare guidelines and help prolong and improve the lives of patients.

The results of the project were published this month in the American Journal of Medical Genetics: "Mortality in Joubert Syndrome". We were able to include information about 40 deceased individuals with JS and compare them to 525 living individuals enrolled with us. The mean age of death was 7.2 years, and the most common causes of death were respiratory failure (35% overall, more common in younger children) and kidney failure (37.5% overall, more common in older children and adults). We identified factors that may be associated with higher risk of mortality, including malformations (polydactyly, occipital encephalocele), progressive organ involvement (kidney, liver), and genetic cause. Given the small number of deceased individuals, it is not possible to make strong conclusions, and the results require validation by other studies. In the meantime, patients with these candidate risk factors should be monitored more closely for respiratory issues, fibrocystic kidney disease, and liver fibrosis.

We would like to thank all of the families who contributed to this important work, as well as the Joubert syndrome and Related Disorders Foundation and our funders. For questions, comments or to enroll in research, please call us at 206-616-3788, or email joubert@uw.edu.

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© 2017 Hindbrain Malformation Research Program, Department of Pediatrics, University of Washington
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