MAKING A-T STEM CELLS BROADLY AVAILABLE

  The A-T Children’s Project is making sure valuable cell models of A-T will be available to researchers everywhere. The breakthrough discovery in recent years that a patient’s cells could be reprogrammed into pluripotent stem cells — which have the capacity to produce many different cell types — has presented an enormous opportunity for A-T researchers. … Read More

REDUCING A-T SEVERITY BY TARGETING OTHER GENES

The laboratory of Stephen Jackson, PhD at the University of Cambridge in England has used CRISPR/Cas gene editing technology in cells to find genes that, when altered, compensate for the lack of the ATM protein. Now, with new funding from the A-T Children’s Project as well as Action for A-T, a UK-based non-profit organization, Dr. … Read More

APPLYING MACHINE LEARNING TO A-T

With an undergraduate degree in electrical engineering, medical training in neurology, and a PhD in robotics, Anoopum Gupta, MD, PhD at Massachusetts General Hospital is unusually qualified to apply new technologies to unravel complicated neurological problems like A-T. Supported by the A-T Children’s Project, Dr. Gupta has begun training a computer system to analyze video, … Read More

A-T FAMILIES PROVIDING DATA TO RESEARCHERS

A year has passed since the launch of the Global A-T Family Data Platform, an effort overseen by A-T families to enable researchers and clinicians to mine large data sets and gain new insights about ataxia-telangiectasia. So far, A-T families from 19 countries have contributed health information about their children who have A-T. The platform’s … Read More

Targeting Neutrophil-driven Inflammation to Reduce Lung Problems in A-T

The A-T Children’s Project has begun exploring whether anti-inflammatory drugs might prevent or reduce lung problems that can become life-threatening for people with ataxia-telangiectasia. The organization has awarded funding to JoAnn Sekiguchi, PhD at the University of Michigan to determine if anti-inflammatory compounds can reduce lung damage in a mouse model of A-T. About 25 … Read More

A-T IN LATIN AMERICA

The A-T Children’s Project is funding Beatriz Tavares Costa-Carvalho, MD and her colleagues to learn more about A-T in the Latin American population with a new grant entitled Ataxia-Telangiectasia: Epidemiological Survey in Latin America. Studying how a disease affects people over time is important not just to understanding the nature of the disease and its … Read More

INFLAMMATION, SWALLOWING, AND AGING IN A-T

Sharon McGrath-Morrow, a pediatric pulmonologist, published results showing that higher levels of IL-6 and IL-8 in the blood, markers for inflammation, are associated with poorer lung function in people with A-T, suggesting a link between inflammation and lung decline in this disease. Maureen Lefton-Greif, a speech and swallowing specialist, published results demonstrating abnormal coupling of … Read More

A-T CLINICAL EXPERTS MEET IN POLAND

From October 6-8, clinicians, therapists and scientists gathered in Warsaw, Poland for the 2016 A-T Clinical Research Conference to discuss ways to improve the care for individuals with A-T. Highlights from the meeting included: An update on the CATNAP Study, a large pediatric neuroimaging study being performed in the UK and co-funded by the A-T … Read More

EXAMINING LUNG BACTERIA IN A-T

Because more than 25% of patients with ataxia-telangiectasia (A-T) develop some form of chronic lung disease, the A-T Children’s Project has awarded a fellowship grant to Abrey Yeo, PhD in Australia to examine the mixture of bacteria found in the airways of individuals with A-T. Even healthy people have numerous types of bacteria in their … Read More

LONG TIME ADVISORS ELECTED TO THE NATIONAL ACADEMY OF SCIENCES

Two of our long time scientific advisors have been elected to the prestigious National Academy of Sciences, one of the highest honors bestowed upon research scientists. Nathaniel Heintz, PhD Nathaniel (Nat) Heintz is the James and Marilyn Simons Professor and head of the Laboratory of Molecular Biology at The Rockefeller University in New York. Dr. … Read More