SPINAL FLUID MAY HOLD CLUES FOR A-T

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

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

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

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

A-TCP IN INTERNATIONAL EFFORT TO SHARE GENOMIC DATA

As a founding member of the Global Alliance for Genomics and Health (GA4GH), the A-T Children’s Project joins 148 organizations and institutions to meet the challenge of sharing genomic and clinical data to advance human health. Analyzing large amounts of genomic data will help researchers find treatments for both common and rare disorders. At the … Read More

NEW HANDBOOK: CARING FOR PEOPLE WITH A-T

The A-T Children’s Project is distributing a 16-page handbook called Caring for People with Ataxia-Telangiectasia. Topics include: Neurology Managing Lung Health Immunology Vaccine Schedules Cancer School Recommendations This handbook draws on the extensive experience of the clinicians who focus on A-T at The Johns Hopkins Hospital in Maryland, the hundreds of families who have been to … Read More