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.