The Dandy-Walker Alliance funds and supports research into the genetic causes of Dandy-Walker and any potential treatments. Our goal is to evolve the body of knowledge about the causes of Dandy-Walker to the point where it is detectable early enough in pregnancy and intervene non-invasively to reverse or lessen the effects.
Read more about our current and past projects below, and learn how you can participate in our research initiatives.
We are proud to partner with Dr. Kimberly Aldinger of the Seattle Children’s Research Institute as she works to find the genetic cause(s) of Dandy-Walker Syndrome.
Currently, only a few genes are associated with Dandy-Walker and those only account for a handful of outcomes. Dr. Aldinger’s lab has sequenced the exomes, genes known to code for proteins, from the DNA of people with Dandy-Walker and their parents (called trios) and has found that Dandy-Walker can occur together with a few rare genetic conditions. However, the exome only looks at one percent of the genome.
Through funding from the Dandy-Walker Alliance, her lab is now sequencing the entire genome to get a more complete picture of what causes Dandy-Walker. They are also using the latest single-cell genomics technologies to better understand how the cerebellum develops, which will help to interpret the results of the genome studies. Her team is also beginning to use stem cells to investigate how genetic changes could lead to Dandy-Walker.
We are proud to partner with Futrend Technology and have launched an artificial intelligence project using exome data from Dr. Aldinger’s Lab at the Seattle Children’s Research Institute Center for Integrative Brain Research (CIBR). Various machine learning algorithms were used to determine possible generic variants that may contribute to Dandy-Walker Syndrome. Initially more than 4,000 variants were extracted from exome data, and through multiple rounds of trainings and scientific literature review we discovered a potential strong correlation between Dandy-Walker and three key variants with 90 percent confidence.
Right now, we are looking to utilize the artificial intelligence and machine learning algorithms to analyze the whole genomic data from some Dandy-Walker patients and their parents to further analyze the potential correlations between Dandy-Walker and those variants. This is a large undertaking with huge computing resources for hardware and software, scientific and medical analysis and review, and whole DNA datasets.
More coming soon on other Dandy-Walker Research Projects!
Are you or your loved one interested in participating in future genetic research trials and other Dandy-Walker related studies? Sign up for our Email and Contact List, and indicate your interest on page two!