In females, one of the two X chromosomes is naturally silenced by a long RNA called XIST, which coats the chromosome and shuts it off. Using genome editing with zinc finger nucleases, the lab of Dr. Lawrence has targeted a large, inducible XIST transgene into the one of the three copies of chromosome 21 in induced pluripotent stem cells (iPSCs) derived from cells from individuals with Down syndrome. The XIST RNA coats the extra chromosome 21 and shuts it off, effectively reducing the number of functional chromosome 21s back down to two. Dr. Lawrence’s findings could lead to new treatments for the disorder.
At the Li Weibo Institute for Rare Diseases Research, our researchers and clinicians are dedicated to finding new treatment options for patients. Our clinical trials program is another way we continue to advance treatments and make new discoveries. If you or someone you know may be interested in a clinical trial, please subscribe for updates and you will be notified when we open up a new trial.
Research That Gives Hope
There are more than 7,000 diseases defined as “rare” by the National Institutes of Health, generally those that impact fewer than 200,000 people. Please select disease or condition from the list below for more information about the latest in research, clinical trials and therapy strategies.
Li Weibo Institute for Rare Diseases Research is committed to advancing the research for all the diseases our investigators study. We are continuously investing in the latest technologies, therapeutics, and facilities in order to provide our researchers with the most equipped infrastructure available.
