Archive for research
New research paves the way to a better understanding of telomeres
Much the way the caps on the ends of a shoelace prevent it from fraying, telomeres — regions of repetitive DNA sequences and a protein structure — protect the tips of chromosomes from damage. Every time our cells divide, telomeres lose a bit of that DNA. Eventually, telomeres become so short that they can no ... Read More about New research paves the way to a better understanding of telomeres
AI-designed proteins open doors to new immunotherapies
Artificial intelligence (AI) is increasingly helping drive advances in science and medicine — including cellular signaling. In a recent study, published in Cell, a team of Boston Children’s researchers used groundbreaking AI-based protein design technologies to generate large numbers of immune cells — specifically T cells — in the laboratory and to enhance immune responses ... Read More about AI-designed proteins open doors to new immunotherapies
Advancing global health: Using AI to detect heart disease in children
In many low- and middle-income countries, pediatric cardiologists can’t help children with congenital heart conditions because of a critical hurdle. They don’t have easy access to advanced diagnostic technology. Key takeaways Children in many countries are not receiving proper heart care because they’re not being diagnosed. AI-powered electrocardiogram (AI-ECG) models could give cardiologists in these ... Read More about Advancing global health: Using AI to detect heart disease in children
Hope in sight for autosomal dominant optic atrophy (ADOA)
Autosomal dominant optic atrophy (ADOA), the most common genetic optic neuropathy, is an insidious disease. It often presents slowly during childhood by way of blurry vision, trouble reading or focusing, and sometimes only as a failed vision test. But behind these subtle signs lies progressive, irreversible vision loss in both eyes caused by deterioration of ... Read More about Hope in sight for autosomal dominant optic atrophy (ADOA)
The dopamine reset: Restoring what’s missing in AADC deficiency
In March 2023, a young girl came to Boston Children’s Hospital unable to hold up her head — one striking symptom of aromatic L-amino acid decarboxylase (AADC) deficiency. This rare neurological disorder prevents the brain from producing dopamine and serotonin — essential chemicals for controlling movement, mood, and basic body functions. Without them, children experience ... Read More about The dopamine reset: Restoring what’s missing in AADC deficiency
Parsing the promise of inosine for neurogenic bladder
Spinal cord damage — whether from traumatic injury or conditions such as spina bifida — can have a profound impact on bladder function. This can result in neurogenic bladder, a problem in which damage to the nerves involved in urination leads to a loss of bladder control. Neurogenic bladder is currently managed with medication, Botox ... Read More about Parsing the promise of inosine for neurogenic bladder
Unveiling the hidden impact of moyamoya disease: Brain injury without symptoms
Moyamoya disease — a rare, progressive condition that narrows the brain’s blood vessels — leads to an increased risk of stroke and other neurological conditions. Doctors treating children with moyamoya often face difficult decisions about treatment, notably deciding whether to perform revascularization, a surgery to bypass the narrowed blood vessels and restore blood flow. A ... Read More about Unveiling the hidden impact of moyamoya disease: Brain injury without symptoms
Forecasting the future for childhood cancer survivors
Children are much more likely to survive cancer today than 50 years ago. Unfortunately, as adults, many of them develop cardiovascular disease, secondary cancers, or both, believed to result from the toxic effects of chemotherapy and radiation. But the full risk picture for survivors hasn’t been clear. “Patients want to know how long they’ll live ... Read More about Forecasting the future for childhood cancer survivors
Genomic sequencing transforms a life: Asa’s story
Asa Cibelli feels like he’s been reborn. The straight-A middle schooler plays basketball and football, does jiu jitsu, is learning guitar, and can solve a Rubik’s cube in 40 seconds flat. But he once wondered if he’d ever feel better. From birth, Asa experienced chronic abdominal pain and severe diarrhea. The many doctors he saw ... Read More about Genomic sequencing transforms a life: Asa’s story
Could the falcine sinus hold the key to vein of Galen outcomes?
A Boston Children’s Hospital study uncovers how fetal magnetic resonance imaging (MRI) could be a game-changer in predicting outcomes for infants born with vein of Galen malformations (VOGMs). The study, just published in Stroke, focused on the width of the falcine sinus (FS) — the fetal structure that channels blood from the malformation back to ... Read More about Could the falcine sinus hold the key to vein of Galen outcomes?