Seeking a path forward for custom genetic treatments
In 2018, at age 7, Mila Makovec became the world’s first person to be treated with a drug made just for her. Languishing from Batten disease, a rare, fatal neurodegenerative disorder, she received an antisense oligonucleotide (ASO) drug designed to silence her genetic mutation, injected into the fluid around her spine through a lumbar puncture. ... Read More about Seeking a path forward for custom genetic treatments
Facial weakness: A dark matter detective story
Elizabeth Engle, MD, has devoted her career to finding genetic and developmental causes for disorders of eye, eyelid, and facial movement. From common conditions like strabismus to very rare disorders, these conditions can impact a person’s appearance and impair social communication, making it hard to shift one’s eyes up, down, or sideways or adjust facial expressions. Each ... Read More about Facial weakness: A dark matter detective story
Finding a way to help newborns who can’t immediately have heart treatment
Newborns with complex congenital heart defects (CHD) and pulmonary overcirculation often need treatment as soon as possible. Unfortunately, some of these children are not in good enough health to withstand surgery. To address this challenge, Boston Children’s heart specialists leaned into technological innovation, their experience, and a perseverance that would ultimately confirm their belief that even the ... Read More about Finding a way to help newborns who can’t immediately have heart treatment
Taming vaccine data: Joann Arce, PhD
Part of an ongoing series profiling researchers at Boston Children’s Hospital. Joann Arce, PhD, is a data tamer — corralling and wrangling vast quantities of data to extract insights on how our immune systems react to vaccines and infections. Her work is paving a path toward smarter, more potent vaccines. As lead of data management ... Read More about Taming vaccine data: Joann Arce, PhD
Female athletes and sports injuries: Psychology matters
If the goal of sports medicine is to promote sports participation, the state of an injured athlete’s musculoskeletal system is part of a larger puzzle. In fact, a growing body of research suggests that psychological factors also play a significant part in how athletes recover and if they return to sports. Consider anterior cruciate ligament ... Read More about Female athletes and sports injuries: Psychology matters
Playing the long game: An exciting discovery in telomere disease
Each time our cells divide, the protective caps that keep our chromosomes from fraying, called telomeres, lose a bit of their DNA. Telomeres shorten steadily as we age, but in certain medical conditions like dyskeratosis congenita, the process is accelerated. “Your telomeres determine your lifeline; how long they are determines how old your body is,” ... Read More about Playing the long game: An exciting discovery in telomere disease
The sooner the better: An argument for fetal MRI before 16 weeks
To date, fetal magnetic resonance imaging (MRI) has been limited to the mid-second or the third trimester of pregnancy. This timing has been based on the belief that MRIs performed too early couldn’t produce diagnostic images because of the small fetal size and normal fetal motion. In addition, although practice guidelines indicate that first-trimester imaging ... Read More about The sooner the better: An argument for fetal MRI before 16 weeks
Years in the making: Team performs successful fetal intervention for VOGM
On an ordinary Wednesday in March, a team of specialists from two institutions made the extraordinary happen: a first-of-its-kind intervention for a rare, life-threatening type of blood vessel anomaly called a vein of Galen malformation (VOGM) — performed in utero. The ultrasound-guided embolization involves deploying tiny metal coils into the affected vein via a microcatheter ... Read More about Years in the making: Team performs successful fetal intervention for VOGM
Immune biomarkers predicted COVID-19 severity and could help in future pandemics
Why did some people fall critically ill from COVID-19 and others not? In May 2020, as COVID-19 swept the world, Boston Children’s Hospital helped launch a national, NIAID-funded study called IMPACC (IMmunoPhenotyping Assessment in a COVID-19 Cohort). Taking a “systems immunology” approach, the goal was to document the virus’s impact on the immune system in ... Read More about Immune biomarkers predicted COVID-19 severity and could help in future pandemics
Advancing mother-child health globally: Grace Chan MD, MPH, PhD
First in an ongoing series profiling researchers at Boston Children’s Hospital. Globally, five million children die annually before the age of 5. Forty percent of these deaths are in the first month — and many are preventable. Grace Chan, MD, MPH, PhD, finds these numbers unacceptable. They contrast starkly with U.S. medicine, including at Boston ... Read More about Advancing mother-child health globally: Grace Chan MD, MPH, PhD