Research and Recruitment

Patient Recruitment

Gleeson Lab at University of California, San Diego
Department of Neurosciences and Pediatrics

Dr. Joseph Gleenson is studying children with Dandy-Walker together with urogenital anomalies like cloacae, duplicated ureters, abnormal kidneys, ambiguous genitalia as part of a new Dandy-Walker Syndrome.  Dr. Gleenson and his colleagues have developed a genetic test for this condition, and results are still preliminary.  Although there are many forms of Dandy-Walker, in this form, the condition is inherited in a recessive fashion, so there would be a 1:4 chance of recurrence with future pregnancies.

Dr. Gleenson is currently seeking patients that meet entry criteria for this study, which includes documented Dandy-Walker as well as any of the urogenital anomalies mentioned above.  (At this time, this study is not offering entry for patients that display isolated Dandy-Walker.)  This study is funded by the United States National Institute of Health, and they have an IRB-approved protocol which requires a signed consent form and collection of saliva or blood for DNA testing.

There is no cost for entry into this study, and all results will be kept confidential. If you have a child with Dandy-Walker together with any urogenital abnormalities, please contact Dr. Gleeson to help us move this research forward.

Email: or
Phone: 858-822-3786 or 858-822-2856

Dobyns Lab at Seattle Children’s Research Institute
Division of Medical Genetics, Department of Pediatrics

Drs. William Dobyns and Kathleen Millen are studying clinical data and DNA samples from individuals with Dandy-Walker Malformation (DWM) and several related disorders of the cerebellum, plus their families. Research done by Drs. Dobyns and Millen has already increased our understanding of the causes of DWM and improved diagnosis, but much more work needs to be done. Families, clinicians and researchers interested in participating in their research are encouraged to contact the Dobyns Lab directly (contact information below). Dr. Dobyns and his associates will review medical records and brain scans as part of their work; short summaries of their reviews will be made available on request.

Phone: (206) 884-4102
Address: CIBR – Dobyns Lab
1900 Ninth Avenue, M/S JMB-10
Seattle, WA 98101

Patient Registry

We are proud to announce the launch of a worldwide Dandy-Walker Patient Registry

The Dandy-Walker Patient Registry, developed in partnership with PatientCrossroads, allows people diagnosed with Dandy-Walker, their family members and researchers to gather and share information and health history in a safe, confidential, online database. This registry will also help us better understand the major health issues among individuals with Dandy-Walker, improve the natural history for the diagnosis and help us recruit for future pre-clinical research studies and therapeutic clinical trials all while educating the community and raising awareness regarding diagnosis, study of the causes and treatments.

Please take 10 minutes to register!

National Institutes of Health

The National Institutes of Health (NIH) Ciliopathy Study is enrolling patients with Dandy-Walker or Dandy-Walker Variant. Patients diagnosed as having Dandy-Walker or Dandy-Walker variant are eligible to participate in an ongoing research study at the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) entitled “Clinical and Molecular Investigations Into Ciliopathies”. ( NCT00068224).

Ciliopathies are a group of disorders caused by defects of primary cilia which are antenna-like sensory parts of the cell. It is suspected that some patients with “Dandy-Walker” or its variants may have a ciliopathy. Patients and families are welcome to contact the principal investigator of the study Dr. Meral Gunay-Aygun at 443-286-1703 or for further information.

To view other NIH funded research projects related to Dandy-Walker and other associated hindbrain malformation by the National Institutes of Health (NIH), the world’s leading supporter of biomedical research on the brain and nervous system, click here or 1-877-326-3992, ext 1.