Boston Children's Hospital

Firearm-related injuries are the leading cause of death among children and adolescents in the United States, yet research on firearm injury prevention receives significantly less federal funding compared to other major pediatric health concerns. A new piece in Pediatrics from Drs. Lois Lee, Alex Butler, and Nancy Andrews calls for an increased investment into firearm-injury prevention research to address rising injury and fatality rates in the U.S. Read more 👇

When a baby is born with low muscle tone (hypotonia), diagnosis can be a lengthy process with multiple tests, and the future can be hard to predict. An international consortium study co-led by Sarah Morton in our Division of Newborn Medicine confirms the value of early genomic sequencing in these newborns. 👇

Epstein-Barr virus (EBV), best known as the virus behind mono, has been linked to various autoimmune disorders later in life, including lupus, multiple sclerosis, and rheumatoid arthritis. Now, a meticulous study led by Scott Snapper in our Inflammatory Bowel Disease Center, with fellow Anubhab Nandy, PhD, adds Crohn’s disease to the list — and provides strong evidence for EBV having a causative role. Snapper speculates that EBV has certain genes or molecules that interact with human genes involved in susceptibility to autoimmune conditions. Read more 👇

All living cells require a continuous supply of oxygen to maintain structure and function. Even brief episodes that compromise oxygen supply can lead to significant disability and death. John Kheir and Yifeng Peng have developed a potential treatment that allows the direct injection of oxygen gas into the bloodstream to rescue patients in these life-threatening situations. Learn more about their project, thanks to a new award from Harvard Medical School 👇

Last week four of our rare disease experts - Mira Bjelotomich Irons, MD, Christine Duncan, MD, Jennifer Arnold, MD, MSc, and Timothy Yu, MD, PhD - participated in the Boston Globe Media's 2025 Rare Disease Summit. Watch recordings of their sessions and hear how they're driving meaningful change in the rare disease space. 👇

We’re proud to share the news of NextGenAI, a first-of-its-kind consortium with 15 institutions dedicated to using AI to accelerate research and transform education. Congratulations to our Dr. Catherine Brownstein who was recognized for her research that specializes in the discovery of new genes for rare and orphan diseases. 👏

Managing type 1 diabetes can be overwhelming for kids and families. Many cut back on nutritionist visits, while others face food insecurity, making it hard to maintain a balanced diet. New research from Boston Children’s is helping endocrinologists address these challenges and improve care 👇

We are proud to collaborate with Digital Medicine Society (DiMe) to create The Playbook: Pediatric Digital Medicine, an open-access resource designed to address the unique challenges of pediatric digital health innovation. Learn more about how The Playbook provides actionable strategies and recommendations to create digital health solutions that meet the needs of children and healthcare providers. http://ms.spr.ly/6041UhUiH

Today, February 28th, is Rare Disease Day. Monica Wojcik, MD, MPH, a neonatologist and clinical geneticist at Boston Children’s Hospital, was recently interviewed by Rare Disease 360® about the importance of recognizing rare conditions and how “the earlier you can recognize, diagnose, treat, [and] start to manage many rare conditions, hopefully that leads to better outcomes.” 👇