Making genome sequencing a first-line test in rare disease
Children with rare diseases often undergo years of medical visits and genetic testing before they get a diagnosis. Over the past few years, clinics have started to embrace exome sequencing as a first genetic test, skipping time-consuming testing of individual genes and gene panels and getting to a diagnosis faster. But exome sequencing doesn’t always ... Read More about Making genome sequencing a first-line test in rare disease
Boosting vaccines for the elderly with ‘hyperactivators’
As we age our immune systems start to flag, leaving us more susceptible to cancer and infections — and less responsive to vaccines and cancer immunotherapies. Going to the heart of the problem, Jonathan Kagan, PhD, a researcher in immunology at Boston Children’s Hospital, has identified a way to rejuvenate the elderly immune system. His ... Read More about Boosting vaccines for the elderly with ‘hyperactivators’
The gut-brain connection: A new approach to OCD and tic disorders?
It’s natural for young children to use routines to help them navigate the world and for older children and teens to zero in on interests and hobbies. But if they veer into disruptive, unwanted obsessions or thoughts or the need to perform compulsive rituals, they may have obsessive-compulsive disorder (OCD). We know that OCD is ... Read More about The gut-brain connection: A new approach to OCD and tic disorders?
Two rising stars in kidney genetics: Nina Mann and Amar Majmundar
A healthy, functional kidney must maintain a delicate balance of water, nutrients, and electrolytes so it can properly filter the blood and produce urine. That often makes caring for patients with kidney disease an exercise in chemistry and mathematics — an aspect of nephrology that attracted two young physician-scientists. Coming from different paths, Nina Mann, ... Read More about Two rising stars in kidney genetics: Nina Mann and Amar Majmundar
A deeper understanding of inflammatory pain could reveal new solutions
Non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen are the main go-to for inflammatory pain caused by wounds, infection, sunburn, arthritis, and other triggers. NSAIDs work pretty well, but chronic use can cause side effects, and they aren’t equally effective for all sources of pain. Could we identify a more effective, safer analgesic that doesn’t involve ... Read More about A deeper understanding of inflammatory pain could reveal new solutions
Can we prevent seizures in Sturge-Weber syndrome?
Port wine stains — capillary malformations on the skin — are the most visible manifestation of Sturge-Weber syndrome. However, up to 60 percent of babies with birthmarks in high-risk locations (forehead and upper eyelid) also have capillary malformations in their brain. Of these, 75 to 90 percent will experience a seizure before the age of 2, ... Read More about Can we prevent seizures in Sturge-Weber syndrome?
Mitochondrial transfer restores heart muscle — but how?
Transferring mitochondria from a patient’s healthy skeletal muscle to damaged, ischemic heart tissue has been shown to restore heart muscle, increase energy production, and improve ventricular function. After pioneering preclinical work by James McCully, PhD, at Boston Children’s Hospital about a decade ago, cardiac surgeons led by Sitaram Emani, MD, have been testing it as ... Read More about Mitochondrial transfer restores heart muscle — but how?
Study suggests hypoxia overexpression causes pericytes to contribute to pulmonary hypertension
Pericytes, the multifunctional cells that work within the walls of capillaries, have been a subject of focus in the study of vascular development, cerebral blood flow, cancer, and neurodevelopment diseases. But pericytes hadn’t been truly studied for their potential role in pulmonary arterial hypertension (PAH) until they landed under the microscopes of Boston Children’s researchers. They recently ... Read More about Study suggests hypoxia overexpression causes pericytes to contribute to pulmonary hypertension
Brain wiring predicted adolescents’ emotional health during COVID
The COVID-19 pandemic was emotionally devastating for many adolescents, disrupting their schooling and social/emotional development. Drawing on national data, a large study finds that how adolescents’ brains were wired — before COVID-19 — predicted their stress, negative emotions, and overall mental health during the height of the pandemic, making them more vulnerable or more resilient. ... Read More about Brain wiring predicted adolescents’ emotional health during COVID
Constant improvements make the Ross procedure a safe aortic valve replacement option
Cardiac surgeons understand that innovation isn’t always about invention. Improving something can be just as transformative. So it shouldn’t come as a surprise that Boston Children’s cardiac surgery team is seeing lasting positive outcomes in patients after making adjustments over the years to the Ross procedure, a last-option treatment for aortic valve disease that hasn’t always been accepted by ... Read More about Constant improvements make the Ross procedure a safe aortic valve replacement option