Research and Recruitment – Dandy-Walker Alliance

Dr. Joseph Gleeson 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. Gleeson 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. Gleeson 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: jogleeson@ucsd.edu or gleesonlab@ucsd.edu
Phone: 858-822-3786 or 858-822-2856
Website: http://gleesonlab.org/index.html

The Dandy-Walker Alliance continues to fund genetic research led by Kimberly Aldinger, PhD at Seattle Children’s Research Institute. Our goal is to sequence as many Dandy-Walker families as possible. This new research will build on the Dandy-Walker research published in the September 2019 issue of the American Journal of Human Genetics that used exome sequencing to find genetic causes for Dandy-Walker. Exome sequencing only looks at the 1% of the genome that makes proteins. The new research will look at the entire genome.

Email: Kimberly.Aldinger@seattlechildrens.org

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!

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”. (www.clinicalTrials.gov NCT00068224).

http://www.clinicaltrials.gov/ct2/show/NCT00068224?term=ciliopathies&rank=1.

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 mgaygun@mail.nih.gov 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.