Our latest study has now been published online in Nature, addressing an important question:

How many patients with genetic disease might be potentially amenable to therapeutic intervention via an individualized ASO approach?

We tackle this question by focusing on a specific subclass of ASOs – splice-switching oligonucleotides that alter patterns of gene splicing, like nusinersen and milasen – in a cohort of individuals with ataxia telangiectasia (as a representative, recessive genetic disorder).

Tim was featured in a recent article in Nature Biotechnology discussing n-of-1 therapeutics, data sharing and other aspects of precision medicine. Read the article here.

Rare Disease Day aims to increase awareness of rare diagnoses, bolster fundraising and research efforts for treatments, celebrate the resilient communities formed through shared hardship, and inspire a better world for people with rare diseases and their families. Rare Disease Day 2023 marks just over five years since the milasen trial began at Boston Children’s Hospital. This first attempt at a genetically targeted medicine for a single patient has been just one of many advancements for the rare disease community and for the field of individualized medicines.

Tim was recently featured as a guest on the podcast Theory and Practice, hosted by Anthony Philippakis (Venture Partner at GV) and Alex Wiltschko (Senior Research Scientist with Google Research). Listen here