Our 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.
Read MoreTim had the opportunity to share Mila’s story with her mother Julia at the Broad Institute Rare Disease Day Symposium — Focus on Rare Disease: Decoding genomes, unlocking therapies.
Read MoreTim tells the story of Mila, a young girl with a rare, fatal, neurodegenerative condition called Batten disease, for whom the Yu Lab developed an experimental ASO therapy personalized to her specific genetic variant.
Read MoreTim presented our work on patient-customized oligonucleotide therapy in the Late Breaking Abstract Plenary Session. Cynthia presented a poster (and winner of a Readers’ Choice Award!) on her Rapid Exome NICU Sequencing project.
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