By Hilary Rosselot
A publication was released this week summarizing one lab’s discovery that could lead to a future treatment for Fragile X.
Drs. Joel Richter and Sneha Shah at the University of Massachusetts Chan Medical School alongside Dr. Elizabeth Berry-Kravis utilized antisense oligonucleotide (ASO) to treat RNA splicing in postmortem brains of individuals with Fragile X syndrome (FXS). This ASO treatment not only stopped the abnormal FMR1 splicing the Richter lab found occurs in FXS, but also rescued or restored FMR1 splicing, which caused the gene to create Fragile X protein, FMRP. We suggest reading the great, detailed summary of this work on the FRAXA Research Foundation website.
Thanks to organizations like the FRAXA Research Foundation, the Simons Foundation, NIH, and the University of Massachusetts for funding this important work!
ASO is one of a few gene activation approaches being explored in Fragile X. Other approaches include AAV gene therapy and CRISPR. None of these approaches are available to be tried in humans just yet and will require additional research to ensure safety, tolerability, and effectiveness. All are possible future treatments for Fragile X!
We are so excited about what the future holds!
about
Hilary Rosselot
Hilary joined the NFXF team in 2019. Prior to joining the NFXF team, she worked at the Cincinnati Fragile X Research and Treatment Center for over five years. She has experience as a clinical research coordinator across many types of clinical trials and served as the clinical research manager for the Cincinnati program. She earned a bachelor’s degree in psychology, a master’s, and is a SOCRA certified clinical research professional (CCRP). She enjoys time with family and friends, a great book, a strong cup of coffee and, of course, a good laugh!
Check out more research articles & opportunities
A Human Forebrain Organoid Model of Fragile X Syndrome Exhibits Altered Neurogenesis
While there is promise for future treatments, utilizing this iPSC brain organoid model for future treatment development could prove to be successful.
Trajectories of Change in the Behavioral and Health Phenotype of Adolescents and Adults with Fragile X Syndrome and Intellectual Disability: Longitudinal Trends Over a Decade
This study shines a light on the need for better long-term support and care planning for individuals with Fragile X syndrome.