How Do Cells Change and Die in the Human A-T Brain?

The A-T Children’s Project has funded the laboratories of E. Alice Lee, PhD and Christopher Walsh, MD, PhD of Boston Children’s Hospital and Harvard University to examine how DNA damage accumulates and how genes are turned on and off differently in brain cells obtained from post-mortem patient brain tissue samples donated by A-T families. Children … Read More

2019 Could Change the Game for A-T

Dear Friends, The start of the new year is less than 24 hours away, and for families impacted by A-T, 2019 promises to be a year unlike any other. As you may know from our recent updates, we’re on track to deliver a gene therapy drug (an antisense oligonucleotide) to an 18-month-old girl with A-T … Read More

Liver Disease in A-T

Liver problems, such as non-alcohol fatty liver, fibrotic changes and even non-alcoholic cirrhosis, have been seen as children with A-T become adults. In addition, liver disease has been associated with insulin resistance, which is also seen in A-T patients. To better understand liver disease in A-T by investigating the correlation between insulin resistance, inflammation and … Read More

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