2018 NFXF SUMMER SCHOLAR RESEARCH AWARDS

Each year, the National Fragile X Foundation funds one or more summer student research fellowships at $2500 each through the Summer Student Fellowship Research Fund. The student’s work can be in the area of Fragile X syndrome (FXS), Fragile X-associated tremor/ataxia syndrome (FXTAS), or Fragile X-associated primary ovarian insufficiency (FXPOI). This award is meant to introduce undergraduate students, or students in professional training programs, to research in the Fragile X field, by providing funding for a summer project. We understand the importance of investing in the future of Fragile X, and this award is part of our commitment to fostering the researchers of tomorrow.

One of this year’s recipients is the lab of SCRMC member Xinyu Zhao, Ph.D.,  department of neuroscience with the work headed by Ryan Risgaard.  The lab’s work on Development and Screening of Novel Compounds for FMR1 Gene Reactivation

Aims and Hypothesis: Developments in stem cell research and sequence-specific synthetic molecules have presented promising opportunities for potential drug therapies of Fragile X Syndrome (FXS). FXS is an X-linked genetic disease and the largest known cause of inherited intellectual disability. Caused by a CGG repeat expansion in the FMR1 gene, FXS results in hypermethylation and subsequent shutdown of gene activity and protein expression. Past therapeutic strategies have attempted to restore FMR1 activity through drug compound screens, but to date, no compounds have successfully, fully reactivated the FMR1 gene. To address this challenge, my mentor Dr. Zhao’s lab has created a luciferase-based reporter cell line that has allowed for the large-scale screening of compounds for FMR1 gene reactivation. Additionally, my co-mentor Dr. Ansari’s lab has successfully developed sequence-specific polyamides that have been shown to bind methylated DNA and reduce methylation of targeted sites. Design of a novel polyamide compound that binds and reactivates the FMR1 gene would represent a significant step towards therapeutic strategies of FXS. Therefore, this project will focus on (1) conducting a secondary screening of potential small molecule gene reactivators and (2) aiding in the development of novel polyamide compounds that bind CGG repeats and reduce methylation of the FMR1 gene.

Read the full article at: https://fragilex.org/2018/research/2018-nfxf-summer-scholar-research-awards/