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.
Read MoreOur research assistant Diana Chin is off to begin an MD PhD program at Case Western Reserve University!
Read MoreTim 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.
Read MoreIn 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…
Read MoreOur recent study found that phenotype-based patient selection is effective at identifying critically ill neonates with a high likelihood of receiving a molecular diagnosis via rapid-turnaround exome sequencing, leading to faster and more accurate diagnoses, reducing unnecessary testing and procedures, and informing medical care.
Read MoreTim was chosen as the 2019 recipient of the Postdoc Association J.F.P Ullmann Award for Exceptional Mentorship.
Read MoreFrancis Collin’s discusses the impact our work is having on precision medicine and the research being done in his own lab.
Read MoreOur genetic counselor, Tori, will be running the 2020 Boston Marathon for the Miles for Miracles Foundation. Miles for Miracles raises funds for Boston Children’s Hospitals areas of greatest need, including patient care, medical research, and community health programs.
Read MoreTojo, Tori, Diana and Aubrie ran 13.1 miles around Boston this weekend. Great job guys!
Read MoreBoxun and Tojo are both presenting posters this year.
Read MoreToday marks the publication of our manuscript, “Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease,” in the New England Journal of Medicine on October 9, 2019. This article describes an example of truly individualized genomic medicine: the development of a customized oligonucleotide treatment for a young girl with a rare, progressive, neurodegenerative disease
Read MoreThe data in our latest publication in Nature Genetics refine estimates of the contribution of recessive mutations to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition.
Read MoreTim and Julia Vitarello shared Mila’s story at the GoldLab Symposium.
Read MoreThank you to the American Academy of Neurology for giving us a platform to share our research.
Read MoreCynthia S. Gubbels, MD, PhD was honored as the 2019 recipient of the ACMG Foundation/PerkinElmer Diagnostics Travel Award at the American College of Medical Genetics and Genomics (ACMG) 2019 Annual Clinical Genetics Meeting in Seattle, Washington.
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