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Spotlighting Rare Diseases Research Blog

UMass Chan Researcher Develops A New Gene Therapy for Children With Sandhoff Disease

Posted On: Apr 28, 2021

A new gene therapy approach for Sandhoff disease developed by UMMS researcher Miguel Sena-Esteves is featured in a story in USA Today.

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Pilot Grant Program for Rare Disease Research Awardees

Posted On: Mar 19, 2021

Two research scientists from UMass Chan Medical School — Kevin Donahue, MD and Marian Walhout, PhD — have been awarded funds for research on much-needed therapies for certain rare diseases...

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Reactivating the Silenced X Chromosome: A Potential Therapeutic Approach to CDKL5 Deficiency and Rett Syndrome

Posted On: Jun 6, 2019


Several years ago, we began investigating the mechanism by which genes are turned off on the X chromosome — a process termed X chromosome inactivation (XCI). In females, XCI is a naturally occurring phenomenon in which one of the X chromosomes is randomly turned off, or silenced, as a way to equalize the dosage of the X chromosome between females (who have two X chromosomes) and males (who have one).

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