FRAXA Research Foundation Awards $100K Grant to Study FXS

When it comes to rare diseases, advancing research is crucial to developing a better understanding of the disease and how it can be treated. However, it can sometimes be difficult to push rare disease research forward. The FRAXA Research Foundation, a 501(c)(3) nonprofit, was founded with that mission in mind: to direct research and directly fund grants that focus on accelerating progress towards effective treatments and a cure for Fragile X syndrome (FXS). 

In a small news release from UCI News, the news platform for the University of California – Irvine, Pat Harriman reports that the FRAXA Research Foundation recently awarded a $100K grant to one of UCI’s researchers, Yuan-Chen Tsai. The postdoctoral fellow received her BSc in Biomedical Sciences and MSc in Neuroscience at University College London before pursuing her PhD in Neuroscience at the University of Zurich. She now works in the Watanabe Laboratory

This two-year grant will help Tsai to improve knowledge around FXS as a whole. She plans to develop organoids of the human brain. Through these organoids, Tsai can track the brain’s reaction to FMR1 gene mutations—the mutations that cause FXS. In particular, she can observe how these changes alter brain activity. Moving forward, these findings could be used to improve research and studies into FXS and drug development. 

The Basics: Fragile X Syndrome (FXS)

The fragile X mental retardation 1 protein (FMRP) is present in tissues throughout your body. In the brain, FMRP contributes to synaptic plasticity (how well you learn and retain memory) and is believed to impact neuronal health. In FXS, the underlying genetic mutation prevents the body from making adequate FMRP. 

FXS is considered the most commonly inherited developmental and intellectual disability. In many cases, males with FXS are more significantly affected than females. The first signs of this condition appear in infancy and early childhood, often when babies fail to meet developmental milestones. Additional symptoms and characteristics may include: 

  • Stuttering
  • Learning disabilities
  • A large head circumference with protruding ears, forehead, and chin
  • Flat feet
  • Sensory issues
  • Enlarged testicles after puberty
  • Anxiety or depression
  • Hyperactivity
  • Difficulty speaking or understanding social cues 
  • Seizures

Right now, there are no cures or disease-specific FXS treatments. However, a doctor may recommend certain steps to manage symptoms, such as medications or therapy to learn more speech and behavioral skills.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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