Boston Children's Research

Congratulations to Boston Children’s Plastic Surgeon-in-Chief, John G Meara MD DMD MBA! He was just recognized by the American Society of Plastic Surgeons (ASPS) with a 2026 PRS Global Open Best Paper Award for his paper, “Unilateral Cleft Lip and Nasal Deformity: 8 Principles for Symmetrical Correction.” The article, published in June, describes Dr. Meara’s hybrid approach to unilateral cleft lip and nasal deformity repair and was rated the best in its category. Read the paper: http://ms.spr.ly/6048vASba

Boston Children’s Hospital is proud to join Broad Institute of MIT and Harvard and The Jackson Laboratory’s Rare Disease Translational Center to launch the Center for Therapeutic Genetics (CTG) — a new collaboration advancing genetic medicines for patients with rare diseases. With fewer than 1 in 20 rare diseases having an approved treatment, CTG is building a scalable, platform-based approach to accelerate the development of tailored therapies and expand access for more patients and families. Boston Children’s Wendy Chung, MD, PhD and Tim Yu, MD, PhD join collaborators David R. Liu, PhD, Cat Lutz, PhD, and Winston Yan, MD PhD in leading this effort. Together, we’re working to make individualized genetic medicine more efficient, accessible, and repeatable.

Boston Children's Hospital and OpenEvidence collaborate to Advance AI-Powered Analysis of Clinical Practice Patterns: The multi-year collaboration will examine how clinicians' real-world use of AI tools at the point of care relates to practice patterns and delivery of care. "This initiative brings together Boston Children's deep clinical expertise and OpenEvidence's clinical evidence platform to better understand care delivery and help children thrive, while preserving patient privacy," said John Brownstein, PhD, Chief Innovation Officer at Boston Children's Hospital. "OpenEvidence has quickly become a trusted, everyday resource at the point of care, supporting millions of patient visits across the U.S. By analyzing anonymous patterns in how clinicians ask and answer questions during these encounters, we can surface insights into health trends that would otherwise remain hidden—and, in collaboration with OpenEvidence, continue helping clinicians deliver better care." The collaboration includes an integration that enables Boston Children's clinicians to access OpenEvidence directly within the electronic health record, reflecting how central the tool has become to clinical workflows at Boston Children's. ⤵️

A new study from the laboratory of Yi Zhang, PhD, provides new insight into the complex role of epigenetics in the days and weeks following fertilization — a stage known as embryogenesis. 🧬 A newly fused sperm and egg turn on hundreds of genes initially at the one-celled stage, and thousands more genes as the embryo divides into many cells. One of the major conductors of this gene symphony is the collection of proteins known as the Polycomb Repressive Complex 2 (PRC2). In the study, the researchers discovered previously underappreciated functions of PRC2 at different stages of development. They found that PRC2 prevents genes from turning on too early in the first few days of existence and regulates the proper number of cells as the embryo further develops. Read more in Nature Portfolio Cell Biology ⤵️

A consortium of 12 organizations, including Boston Children's, has been selected to receive funding from the Advanced Research Projects Agency for Health (ARPA-H) under its THRIVE program. The award, for up to $34.5 million, will fund the Pediatric Epilepsies and Rare CNS (PERC) Gene Editing Platform — a collaboration of academic researchers, clinicians, patient advocates, and biotechnology companies aiming to develop gene-editing treatments for children with rare forms of epilepsy. Learn more from our collaborators at Broad Institute of MIT and Harvard ⤵️

Is epilepsy genetic? Beth Sheidley, Director of Genetic Counseling in the Department of Neurology, recently spoke with the All Access DNA Podcast about this and much more 👇

To make bone marrow transplants safer, Boston Children’s researcher Pietro Genovese and his team have designed a strategy that doesn’t require chemotherapy. Instead, they use an antibody to enlist the immune system to target the original bone marrow cells, while leaving the donor cells unscathed. The researchers plan to eventually develop their system for patients normally too sick to undergo a bone marrow transplant or those with milder, less life-threatening conditions to access potential cures. Read more ⤵️

Researchers in the Aerodigestive Center recently conducted the first-ever study of a non-invasive saliva test for aspiration in infants and young children. Their goal was to address two key challenges in the diagnosis and management of aspiration in young children: the high rate of silent aspiration and the limitations of videofluoroscopic swallow studies in this patient population. Their results suggest that salivary substance P may have hold promise as a potential biomarker of aspiration in children. Given the ease with which saliva samples can be obtained and analyzed for this purpose, this approach may provide major benefits in the clinical management of oropharyngeal dysphagia in children. Learn more in The Journal of Pediatrics ⤵️

In this issue of Research Reports, we highlight innovations in science and care for patients with CAGS, a new award for Brielle Ferguson, PhD, research from postdoc Sunah Choi, and more.