Author: Theodore Coutilish

Treating Sleep Disorders in Fragile X Syndrome

Theodore Coutilish Research Updates
Treating Sleep Disorders in Fragile X Syndrome

  Altered signaling at synapses is involved in causing sleep disorders in fragile X syndrome University of Wisconsin senior scientist Cara Westmark, PhD, studies the effect of promising therapeutics on sleep in fragile X mice Your child finally falls asleep. You quickly celebrate before quietly turning to your favorite book or another episode of Game of Thrones. You tiptoe to bed. Exhausted, you slowly fall asleep. Enter deep REM. Minutes later, you are awoken loudly. Your bundle of joy with fragile X syndrome (FXS) is now bouncing off you, wide awake, screaming, smiling, and demanding you join the party before you all return to bed after a few rounds of cajoling and pleading. Minutes later, repeat, rinse. Hitting home? The oh-my-it’s-way-too-early morning parties may be over if new research by Cara Westmark, PhD, is successful. Westmark, senior scientist, Department of Neurology, University of Wisconsin previously found proteins involved in Alzheimer’s

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Double Down: Fragile X Clinical Trial Combines Two Available Drugs

Theodore Coutilish Clinical, Clinical Trials, Francois Corbin, MD, PhD, Research Updates, University of Sherbrooke, Canada ,
Double Down: Fragile X Clinical Trial Combines Two Available Drugs
Jean-Francois Lepage, PhD, and Francois Corbin, MD, PhD, with MRI machine If all the science world’s a stage, fragile X researchers are more than merely players. They are center stage. So believes Francois Corbin, MD, PhD, professor, Université de Sherbrooke, Canada, who directs the university’s Fragile X Clinic. Corbin, who has received more than $100,000 in FRAXA support since 2012, is leading a pilot randomized Phase II trial, exploring the tolerability and the synergistic effect of a combined therapy. They will combine minocycline, which is often used to treat acne, and lovastatin, which is used to lower cholesterol. Both drugs target specific alterations in the brain of fragile X patients that would potentially have a combined powerful effect on their behavior. “To my knowledge, this is the first time we have a clinical trial with two different drugs combined to act on two different targets,” Corbin said. “The combined actionRead more

Can STEP Inhibitors Treat Fragile X Syndrome? Yale Professor Investigates

Theodore Coutilish Research Updates
Can STEP Inhibitors Treat Fragile X Syndrome? Yale Professor Investigates

Yale Professor Paul Lombroso, MD, looks to improve cognitive and social behaviors in those affected by Fragile X thanks to FRAXA support   It’s been 25 years since Paul Lombroso, MD, first discovered the STEP protein (STriatal-Enriched protein tyrosine Phosphatase). In its simplest terms, STEP is a protein found only in the brain; is critical as people learn and develop social behavior; impacts how short memory becomes long-term memory; and regulates synapsis strengthening and intracellular signaling. When STEP elevates, as occurs in those with fragile X syndrome and many other disorders, it significantly impacts cognitive and memory development and social behaviors. “My first decade of research was to understand STEP,” said Lombroso, the Elizabeth Mears and House Jameson Professor in the Child Study Center and the Director of Laboratory of Molecular Neurobiology, Yale University. “What was it doing in the brain …. what was it regulating?” Now Lombroso is engaged

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