Boston Children's Research

Critical Path Institute (C-Path) recently launched a new initiative, ‘One to Millions,’ to advance individualized medicine at a global scale.“This represents a critical new tentpole for interventional genetics, supplying a long-missing piece for approval and reimbursement and completing the arc that began with the FDA’s 2021 guidance on individualized antisense therapies,” said Tim Yu from the Division of Genetics and Genomics at Boston Children’s Hospital and co-founder of the N=1 Collaborative. Learn more about this new initiative:

For five decades, Stuart Orkin has harnessed new genetic tools to transform care for blood disorders – helping make sickle cell and beta thalassemia curable. Learn more about his remarkable career ⬇️

As part of a study conducted by the eMERGE Genomic Risk Assessment Network, Boston Children's and 10 other hospital systems nationwide integrated polygenic risk results into their EHRs. Using EHR-linked alerts, clinicians initiated one-on-one conversations with the 5,000+ individuals who received “higher-risk” results for conditions such as breast cancer, coronary heart disease and obesity. Read more in Becker's Healthcare 👇

A meaningful milestone for a family navigating a rare disease. 💙 As 1-year-old Poppy celebrates her first birthday with Ataxia Telangiectasia (A.T.), experts like Darius Ebrahimi-Fakhari are advancing research to better understand the disease and accelerate progress toward treatments that could slow its progression. ⤵️ Read more:

Margaret Stefater-Richards MD, PhD, is studying how bariatric surgery changes the body, uncovering insights that could lead to new treatments for obesity and related disorders in children. ⤵️

In studying the cellular origins of a rare, aggressive childhood brain tumor called pineoblastoma, researchers at Dana-Farber Cancer Institute/Boston Children’s Cancer and Blood Disorders Center, St. Jude Children’s Research Hospital, and Uppsala University have also uncovered a shared dependency among other types of brain tumors. The team, including Mariella Filbin, MD, PhD, co-director of our Brain Tumor Center, uncovered a tumor-associated photoreceptor signature common not just to pineoblastoma but also to retinoblastoma and group 3 medulloblastoma. The finding establishes a developmental basis for molecular similarities between these tumors, paving the way for future research and potential treatment targets. Read more ⤵️

Last week at Boston Children's annual Women in Science Symposium, we asked our speakers about the most rewarding parts of their careers. From translating research insights into clinical care to mentoring the next generation, we're inspired by the impacts they continue to make. Hear from Nicole Ullrich, Joan LaRovere, MD, MSc, MBA, Carla Kim, and Naama Kanarek 👇

New research published today in Nature finds that tumor cells within supratentorial ependymomas (SE) – an aggressive childhood brain cancer – cluster into distinct tumor cell populations. Much like a neighborhood in your hometown, the research team found that each cell subtype within these “communities” has a specific (and previously unappreciated) role to play. Understanding how SE tumor cells form neighborhoods and the function of each cell type could guide more precise, targeted treatments. ⤵️

Diane Shao is a physician scientist whose work focuses on understanding the genetic causes of childhood neurodevelopmental conditions, including how newer single-cell approaches can help answer questions we couldn’t address before. Learn more about her work on the latest episode of The Bioinformatics CRO Podcast. ⤵️

Stu Orkin recently celebrated his 40-year anniversary as an Howard Hughes Medical Institute (HHMI) Investigator studying the development of blood cell lineages and oncogenesis. Marie Palardy has worked alongside Stu and provided key support throughout that period, also achieving this 40-year milestone. Congratulations to both Stu and Marie! 👏