A Framework for Individualized Splice-Switching Oligonucleotide Therapy
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).
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Precision medicine is having it's day
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.
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Rare Disease Day 2023
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.
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Bold Predictions for Human Genomics by 2030: An NHGRI Seminar Series
Will genomic discoveries will lead to curative therapies involving genomic modifications for dozens of genetic diseases by 2030? Tim discussed this bold prediction at an NHGRI seminar last month.
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2021 American Neurological Association Awards
Tim was the recipient of the Derek Denny-Brown Young Neurological Scholar Award in Clinical Science for his presentation titled: “Piloting Individualized Therapies for Orphan Neurogenetic Disease”
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Good Luck Mike!
Our computational research assistant Mike is off to medical school at Albert Einstein!
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Theory and Practice Podcast
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
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Disruption of RFX family transcription factors
Our recent study delineates a novel human neurobehavioral phenotype including ASD, ID, and/or ADHD due to deleterious variants in RFX family transcription factors in 38 individuals
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2020 Oligo Therapeutics Society Meeting
Tim chaired a session on N=1 therapeutics this week at the 16th Annual Meeting of the Oligo Therapeutics Society.
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2020 Boston Marathon
This weekend, our genetic counselor Tori ran the virtual Boston Marathon for the Boston Children’s Hospital miles for miracles team!
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Chan Zuckerburg Initiative
CZI’s Neurodegeneration Challenge Network brings together scientists to understand the fundamental biology of neurodegenerative diseases and develop new strategies for treatment and prevention, this year Tim gave the keynote presentation at their annual meeting. Watch his presentation here!
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2020 HMS DBMI Precision Medicine Conference
Tim had the opportunity to speak on a panel at the Harvard Medical School Division of Biomedical Informatics Annual Precision Medical Conference. The focus of the conference this year was hyperindividualized treatments and the keynote speaker was Julia Vitarello, our patient Mila’s mother.
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Good Luck Diana!
Our research assistant Diana Chin is off to begin an MD PhD program at Case Western Reserve University!
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Harvard Medical School Annual Bioethics Conference
Tim will be speaking at the upcoming Harvard Medical School Center for Bioethics annual bioethics conference, “Biotechnology and the Future of Medicine,” on March 9th at 2:40PM during the “N=1 Trials” and the Future of Hyper-Personalized Medicine session.
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Rare Disease Day 2020
In the spirit of Rare Disease Day, we are both reflecting on the past — in particular, the work we started with milasen two and a half years ago — and are looking toward the future…
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