Down Syndrome Therapeutic Strategies

 

Shutting Down the Extra Chromosome in Trisomy 21


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.

 

trisomy 21 research

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Down Syndrome Investigators

Jeanne Lawrence PhD

Jeanne Lawrence PhD

Professor of neurology and pediatrics

Lawrence Lab

Jaime Rivera, PhD

Jaime Rivera, PhD

Associate professor of pediatrics

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Clinical Trials

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

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