Timothy Yu, MD, PhD and his team at Boston Children’s Hospital just published a groundbreaking study in the prestigious science journal Nature, reporting a significant milestone for A-T research. The team analyzed the whole genome sequences of 235 individuals with A-T from the Global A-T Family Data Platform, creating an algorithm to identify the specific disease-causing mutations in the A-T gene that show promise for splice-switching antisense oligonucleotide (ASO) gene therapy. The article describes how they rigorously analyzed the various mutations and then developed the first ASO drug to treat a young child with A-T.

Beyond enabling a potential therapy for A-T, the framework Dr. Yu and his colleagues developed for this initiative represents a new paradigm that can be applied to many other genetic diseases where specific mutations must be analyzed to have customized drugs quickly and efficiently developed for each of them. It could turn out to be a valuable scientific contribution for millions of people with rare diseases.

And for A-T, as a result of Dr. Yu’s rapid progress, we’ve begun collaborating with and supporting additional researchers in hopes of expanding the development of ASO treatments to all of the children and young adults diagnosed with A-T who carry a mutation suitable for this type of therapy (estimated to be between 9% and 15% of all A-T patients). This is not a simple goal, as each mutation (affecting anywhere from just one patient to a small handful) will require a separate drug development effort.

We are so grateful to the A-T families from all over the world who generously contributed their data, which played a critical role in this research. We also feel indebted to our donors, grassroots fundraisers, and the Yu Lab for their invaluable support that brought us to this moment. In addition, we want all A-T families to keep in mind that ASOs are just one of several strategies we are now aggressively pursuing to develop new treatments for this terrible disease.

You can read the Nature publication here: https://www.nature.com/articles/s41586-023-06277-0

And, you can find a simpler explanation about the research and its implications here in STAT News, a news source that focuses on health, medicine, and life sciences: https://www.statnews.com/2023/07/12/custom-gene-therapy-rare-disease-treatment/

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