Non-Viral Gene Therapy for A-T

Gene therapy, one of the most promising approaches now being tested on a range of rare and single-gene diseases, relies on using a modified virus to deliver a functioning copy of a gene into the cells of patients. But the viruses that work best for delivering genes to the brain, called adeno-associated viruses (AAVs), are … Read More

An ASO is Working in an A-T Child’s Cells!

Email from Volunteer Chairman and Founder, Brad Margus: As you know, to develop an urgently needed treatment for A-T, we’ve been eager to use a gene therapy approach called “antisense oligonucleotide” or “ASO” therapy to produce a functional ATM protein in children who have A-T. While (with your help!) we’ve been steadily overcoming the financial … Read More

Making Brain Cells from A-T Patients

The A-T Children’s Project has begun funding a highly respected scientist’s lab to make cerebellar Purkinje cells from A-T patients. Ever since Shinya Yamanaka and John Gurdon shared the Nobel Prize in 2012 for converting mature blood and skin cells into stem cells, neuroscientists have been trying to take the next step: converting those stem … Read More

Identifying Factors that Impact Growth in A-T

In collaboration with Valerie Natale, PhD of the Forgotten Diseases Research Foundation, the A-T Clinical Center at Johns Hopkins, funded by the A-T Children’s Project, is analyzing growth data for patients with A-T who have been followed over time to develop growth curves for A-T. The collaborators will then examine the effects of disease severity, … Read More

Sequencing RNA in Search of A-T Biomarkers

With support from the A-T Children’s Project, the lab of Sharon McGrath-Morrow, MD, a pediatric pulmonologist for the A-T Clinical Center, is sequencing RNA from A-T patient blood cells in hopes of identifying markers that will correlate with either immune problems or cancer and predict the disease’s course. If found and validated, such biomarkers could … Read More


The A-T Children’s Project has recently awarded funding to Rob Dineen, PhD from the University of Nottingham in the UK to assemble existing brain imaging data and examine how the cerebellum changes in A-T. Results from the review may bring more clarity about where and when the most critical problems occur in the A-T brain, … Read More


Email from Volunteer Chairman and Founder, Brad Margus: We’ve been overwhelmed by the generosity with which so many of you have reached out to support our efforts to treat, for the first time in history, a child with ataxia-telangiectasia (A-T) using antisense oligonucleotide gene therapy. This approach could slow or completely stop the disease in … Read More


  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


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


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