Research and Recruitment

2015 Research Update

The first nine years have been very exciting since the creation of the Dandy-Walker Alliance on January 15, 2006.  Some of the noteworthy achievements include:

• Creating a worldwide Dandy-Walker Patient Registry that is helping us better understand the major health issues experienced by individuals with Dandy-Walker;

• Funding the largest whole exome sequencing research project of Dandy-Walker samples ever conducted.  This project is advancing our knowledge into the biology and genetic basis of the birth defect; and

• Producing and disseminating educational publications worldwide, providing outreach and support to families, and hosting awareness events and programs for Dandy-Walker.

Building on the research the Dandy-Walker Alliance funded in 2014, we are analyzing the data to understand how various genes are expressed in the developing cerebellum of mice.

This research will help to answer some never before explored questions such as, is there a shared pathway between genetic and non-genetic Dandy-Walker outcomes?  Can Dandy-Walker be caused by events such as early brain bleeds affecting the cerebellum where there isn’t an underlying genetic factor?

We are also expanding into pathology research projects to determine if what we are seeing as genetic mechanisms underlying Dandy-Walker in mouse models is also what is happening in the human cerebellum.  This will occur in a multi-institutional data repository that will include imaging, follow-up information, genetic data and DNA samples.  A major strength of this type of repository is open accessibility to researchers worldwide.  This will make research easier, more powerful and diversified amongst multiple institutions.

Finally, we will continue to focus on patient recruitment into existing research studies looking towards next generation sequencing techniques and whole genome sequencing opportunities.

Nine years ago we began down this path because families all across the world cared about someone with Dandy-Walker Syndrome and their future.  If we care, we must not wait for someone else to create the future we seek.  We must create our own future.

Patient Registry

We are proud to announce the launch of a worldwide Dandy-Walker Patient Registry https://connect.patientcrossroads.org/?org=dwa

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!

Center for Integrative Brain Research, Seattle Children’s Hospital

Drs. William Dobyns and Kathleen Millen at the Center for Integrative Brain Research at Seattle Children’s Hospital are studying clinical data and DNA samples from patients with Dandy-Walker Malformation (DW) and their families. Research done by Dr. Dobyns and Dr. Millen has identified 4 DW genes and they already have leads on three other genes which reside on chromosomes 8, 9p and 13. This has increased our understanding of the causes of DW, improved diagnosis, and may lead to new therapeutic options.

Families, clinicians and researchers interested in participating in our research or assistance with patient recruitment are encouraged to contact us.

Research at the Center for Integrative Brain Research at Seattle Children’s Hospital begins with enrollment by obtaining informed consent, collecting and reviewing clinical reports, brain MRI images and photographs. Summaries of assessments, as well as clarification of the diagnosis in some cases, will be made available to families and physicians on request.

Once the Center for Integrative Brain Research has reviewed medical records, they will initiate genetic analysis. Families interested in this study are encouraged to send samples from one or more different tissues such as saliva, blood, or skin. Saliva or blood samples from the biological parents may be requested as well. Details will be provided upon enrollment. There are no travel requirements or additional costs associated with participation in the research which may or may not benefit your child.

Contact information for enrollment or questions about our research program with the Center for Integrative Brain Research is below.

Research Contact Information:
Center for Integrative Brain Research
1900 Ninth Avenue, M/S C9S-10
Seattle, WA 98101

Email: dandywalker@seattlechildrens.org
Phone (206) 884-1277
Fax (206) 884-1210

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”. (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.