RECURSION PHARMACEUTICALS ANNOUNCES FUNDING SUPPORT FOR ATAXIA-TELANGIECTASIA

Press Release from Recursion Pharmaceuticals Salt Lake City – Recursion Pharmaceuticals, an emerging biotech company today announced receipt of a research award from the A-T Children’s Project, which seeks to support research for the disease ataxia-telangiectasia. Ataxia-telangiectasia (A-T) is a rare genetic disease that attacks children, causing progressive loss of muscle control, immune system problems, … Read More

MD-PHD STUDENT FOCUSES ON EYE PROBLEMS IN A-T

Pavan Vaswani, an MD-PhD student at the Johns Hopkins University School of Medicine, has just earned the PhD portion of his dual degree by researching eye movements in A-T. In the Laboratory for Computational Motor Control, headed by Reza Shadmehr, PhD, and under the guidance of Thomas Crawford, MD, pediatric neurologist for the A-T Clinical … Read More

WHEN PARENTS START COMPANIES TO CURE THEIR CHILDREN

For These CEOs, Helping Ill Offspring Can Mean Putting Profits First By AMY DOCKSER MARCUS – December 26, 2014 – Wall Street Journal For years, Brad Margus has juggled two goals as chief executive: Make money, and find cures for his children. He just co-founded a startup, Exigence Neurosciences Inc., in part to seek treatments … Read More

MITOCHONDRIA EXPERTS PONDER A-T

Mitochondria, tiny oval structures found within our cells, are essentially power houses. They produce the energy our cells need to function and survive. And abnormal mitochondrial activity plays a role in many diseases, including several neurological disorders. Recently, several research teams working on A-T have produced data hinting that mitochondrial activity – including the production … Read More

HOW DOES A-T AFFECT LEARNING AND EMOTIONS?

Instead of studying the movement problems of A-T, neuroscientists at Massachusetts General Hospital and Harvard Medical School will soon begin studying how A-T affects cognition, especially how A-T kids learn and process emotions. Besides increasing our understanding of the abnormal brain circuitry in A-T, this study may produce recommendations that help children with A-T do … Read More

A-T BRAIN IMAGING STUDY OFFERS CLUES FOR TREATMENTS

In a groundbreaking imaging study just published in the journal Brain, researchers made unexpected discoveries about brain activity that now have them thinking about new treatments that could help people with ataxia-telangiectasia (A-T) control their movements better. Nora Volkow, MD, Director of the National Institute on Drug Abuse at the National Institutes of Health, spearheaded the … Read More

UNRAVELLING NERVE-CELL DEATH IN RARE CHILDREN’S DISEASE

From the Sanford-Burnham Medical Research Institute Press Release: Researchers discover mutations in a protein that plays a role in the body’s DNA repair system—similar to what’s observed in the rare children’s disease ataxia-telangiectasia. The discovery provides an approach to identifying therapies that will resuscitate the broken DNA repair mechanism. Newswise — LA JOLLA, Calif., March … Read More

UNDERSTANDING A-T THROUGH BRAIN IMAGING TECHNOLOGY

Using brain imaging technology, researchers at the University of Nottingham, United Kingdom, are working on a way to develop biomarkers for ataxia-telangiectasia that may enable and accelerate future clinical trials. Biomarkers are indirect measures of the underlying disease process that can help to assess whether or not drugs work. Drs. Robert Dineen and Dorothee Auer … Read More