The Sherr Lab is excited to update you on research projects we have been working on. We have put together a newsletter where memberes of our lab have provided short summaries about their ongoing work. We will be emailing a copy to all of our research participants.
The DDX3X Foundation awarded grant from Chan Zuckerberg Initiative. It is a part of the CZI's Rare As One project. More details can be found here: https://www.mountsinai.org/about/newsroom/2020/mount-sinai-to-accelerate-rare-disease-research-through-a-grant-from-the-chan-zuckerberg-initiative-pr
The UCSF Brain Development Research Program has the largest study to date of individuals with DDX3X syndrome. Dr. Elliott Sherr and Dr. Debra Silver discuss their research article published in Neuron journal: Scientists Unravel Mystery of Rare Genetic Disorder the Causes Intellectual Disability
Researchers first linked DDX3X to autism in 2014, and to intellectual disability the following year. The gene is located on the X chromosome, so mutations primarily affect girls; most boys with mutations in the gene are thought to die in utero.