University of Wisconsin Archives • FRAXA Research Foundation

To Interrogate the Developmental Timing for Treating Fragile X Syndrome

July 29, 2024

Are there critical periods in Fragile X syndrome? Will treatment work in adults as well as in children? This team aims to answer these questions.

Identifying Cellular and Molecular Signatures in Human Neurons That Distinguish Fragile X Syndrome Patients with Divergent EEG Profiles

June 4, 2021

Just as Fragile X affects individuals differently, medications do as well. This project aims to bring personalized medicine to Fragile X syndrome.

Preclinical Testing of High Fat/Low Carb Diets in Fragile X Mice and Cells

May 28, 2021

Dr. Cara Westmark’s team will use mice to determine if palatable Atkins-type diets can improve sleep and boost learning skills for those with Fragile X syndrome.

Fragile X Researcher, Cara Westmark, PhD

Ketogenic Diet Eases Symptoms in Fragile X Male Mice

March 12, 2020

Westmark Lab is studying sleep patterns in Fragile X mice, working with UW-Madison to develop tools that speed EEG data analysis

Targeting Mitochondria in Human Fragile X Syndrome Neurons

August 6, 2019

Fragile X brain cells have fewer, smaller mitochondria. This team tested mitochondria-boosting drugs that improved symptoms in mice to see if they can help humans.

Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X

May 23, 2017

FRAXA Research Foundation awarded $122,000 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.

Developing IPS cells to Screen Drugs which can Reactivate the FMR1 Gene

March 20, 2013

This project developed human stem cell and mouse models to test FMR1 gene reactivation in the brain, advancing future gene therapy strategies for Fragile X.

Ab-Mediated Translation in Fragile X Syndrome

September 13, 2012

This work found amyloid precursor protein (APP) overexpression and increased β-amyloid in Fragile X mice, implicating Alzheimer-related pathways in FXS pathology.

Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

January 31, 2012

JNK kinase is abnormally active in Fragile X model mice and directly regulates mGluR-dependent translation of FMRP targets, pointing to JNK as a therapeutic target.

Altered Cyclic AMP Signaling in Fragile X

March 20, 2008

FRAXA-funded research by Dr. Anita Bhattacharyya at the Waisman Center revealed key insights into cyclic AMP signaling in Fragile X. Findings were published.

James Malter, at University of Wisconsin-Madison, FRAXA research grant

Using Fenobam to Reduce APP and Abeta in Fragile X Mice

February 14, 2008

With FRAXA funding, Drs. James Malter and Cara Westmark studied how APP and its metabolite may drive excess protein synthesis in Fragile X, aiming to restore balance.