Crystal Zhao

Crystal Zhao, PhD

Sanford Burnham Prebys Medical Discovery Institute
Basic Research Award: $150,000

Novel method for reactivation of the silent X-chromosome to restore MECP2 expression

Humans have 23 pairs of chromosomes. The 23rd pair is called the sex chromosomes because they differ between females and males (females have two X chromosomes; males have one X chromosome and one Y chromosome). In females, a process known as X-chromosome silencing takes place in order to inactivate one of the X-chromosomes and maintain proper dosage of the genes located on the X-chromosome. MECP2 is one of these genes. As such, females with Rett syndrome often already have the normal copy of MECP2 that their cells need. It just needs to be reactivated. This reactivation can be achieved through targeting the genetic elements that regulate X-chromosome inactivation. Dr. Zhao’s lab has recently identified a new genetic element that contributes to this process. This research will determine how that contribution is made and if this new element can be leveraged to reactivate the silent X-chromosome and MECP2.