Scientists have known for a long time that skin and blood cells obtained from A-T patients do not survive as well as cells from healthy people, and recent discoveries have hinted that A-T cells, especially brain cells in A-T patients, may be dying because of defective cell metabolism. The A-T Children’s Project has therefore funded … Read More
Recently, Stephen Rose, Kate Sinclair and Martin Lavin from the Queensland Institute of Medical Research in Brisbane, Australia, successfully used a special kind of magnetic resonance imaging (MRI), called diffusion MRI, to examine the brains of people with A-T at various ages. They observed changes in the cerebellum and in projections from the cerebellum to … Read More
With funding from the A-T Children’s Project, Stefan Zielen and Ralf Schubert from the Goethe University in Frankfurt, Germany will examine spinal fluid from children and adolescents with A-T in an attempt to identify measurable indicators of oxidative stress, inflammation, or tissue breakdown that correlate with disease progression and severity. Spinal fluid, the clear fluid … Read More
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
MAKING SURE A NEW A-T RATING SCALE IS USED CORRECTLY WORLDWIDE February 2015 – When clinical trials are performed by researchers at different sites to test the efficacy of potential medicines in A-T patients, it is critical for all the researchers to use the same scale, accurately and consistently, to measure each patient’s condition before … Read More
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
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, 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
Scientists led by Michael Kastan, MD, PhD, head of the Duke Cancer Institute in Durham, North Carolina, have discovered that cells taken from A-T children are abnormally sensitive when deprived of nutrients such as glucose, glutamine and oxygen. With a grant from the A-T Children’s Project, the team will now study metabolic stress pathways in … Read More
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
