The future of Fragile X research depends on inspiring and encouraging new generations of researchers to push Fragile X forward. That’s why we started the Summer Student Fellowship, which is awarded to a selected group of studies from young researchers.
Today, we’re proud to announce the recipients for this year’s awards, as well as the results and summaries of last year’s studies.
2014 Summer Student Fellowship Recipients
- A Controlled Trial of Sertraline in Young Children with Fragile X Syndrome
- Improving Health Education for Women Who Carry an FMR1 Premutation
- Excitatory/Inhibitory Modulation and the Fragile X Synapse
- Genetic Markers Predictive of Sertraline Treatment Response in Young Children with Fragile X Syndrome
2013 Summer Student Fellowship Recipients
Director: Dr. Allan Reiss and Project Manager: Mai Manchanda
This summer, I worked with CIBSR at Stanford University under director Dr. Allan Reiss and project manager Mai Manchanda on a double-blind, placebo-controlled trial of donepezil in Fragile X syndrome (FXS). My work included administering and scoring behavioral and cognitive outcome measures to study participants with a focus on the CNT as well as aiding with the collection of neuroimaging data, including structural and functional MRI and near infrared spectroscopy (NIRS). Furthermore, I carried out structural MRI data editing and quality checking using the brain imaging software FreeSurfer 5.3, a semi-automated anatomical parcellation and segmentation tool.
Based on preliminary analyses of CNT data, donepezil had no effect on cognition in FraX. However, our study utilized many other behavioral/cognitive outcome measures beyond the CNT that must be analyzed to further determine whether donepezil enhances cognition or behavior in FraX.
Emory University School of Medicine
Mentor: Peng Jin
Given the high prevalence of Fragile X premutation carriers among the general population and the high risk of developing FXTAS among the male carriers, it is important to develop therapeutic intervention for FXTAS. Using our established assay, we screened multiple libraries, and identified and validated 34 small molecules. Some of them have the unknown biological activities while others have been implicated in different biological pathways, which will be further tested in the mammalian system in the near future. Our studies should provide new insight on the therapeutic development for FXTAS.
Fragile X syndrome is characterized by hyperactivity, and about 25% of patients have epilepsy. FMRP, the protein lost in Fragile X, regulates many different functions in nerve cells. One of its targets is Kv4.2, a protein that is critical for the activity of brain cells. Abnormal levels of Kv4.2 in FXS patients may contribute to the cause of epilepsy. My project was to determine how Kv4.2 is regulated by FMRP. The results suggest a new model for the regulation of Kv4.2 by FMRP.