Reaching beyond Rett Syndrome: How a family and the Waisman Center are working to improve care for those with rare syndrome

Several months after Ella’s first birthday, she received her diagnosis of Rett syndrome. “It was devastating, life changing. It’s rare – we hadn’t heard of it before we started this journey and it’s a very difficult diagnosis to process,” Jennifer says.

UW effort to map Down syndrome brain raises prospect of treatment for disorder

In a lab near UW Hospital, Megan Jandy grows stem cells from people with Down syndrome — 10 batches of cells, most in three-dimensional clusters, each batch featuring one group with the extra chromosome that causes the disorder and one group without it.

Genomics and genetics cluster hire brings expansion into new research avenues

Tiny but mighty is a good way of describing our genome – the collection of our DNA. Although not visible to the naked eye, the human genome holds around 21,000 genes and millions of DNA variants, containing the information needed to maintain an organism throughout its life.