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
Hi Everyone, It’s settled. We’ve selected a little, 18-month girl on the west coast of the U.S. to be the first A-T child in history to receive gene therapy. We had the pleasure of letting her parents know the exciting news last week. How did we pick the first kid? The laboratory of Dr. Tim … Read More
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
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
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
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
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
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
I’m pleased to report that we have already amassed health and genomic data on 265 children and young adults with A-T through our on-line Global A-T Family Data Platform. Contributing families span 25 countries, facilitated by the portal’s functionality in 10 languages. Now, research scientists have begun plunging into these de-identified data sets, seeking discoveries … Read More
What an incredible response we had to the Bill and Lydia Addy “Double Match” campaign! We are pleased to report that, with your help, we quickly received donations to cover the entire $125,000 that Bill and Lydia Addy had offered to match 2-to-1 on donations received by May 9th. As a result, combined with their … Read More
