The Boston Children's Hospital-led consortium aims to launch clinical trials for new treatments and develop biomarkers to monitor treatment effectiveness. The study will enroll patients with rare genetic syndromes causing ASD/ID, such as tuberous sclerosis complex, Phelan-McDermid syndrome, and PTEN mutations.
The largest genome-wide association study (GWAS) to date identifies over 400 gene regions influencing height, explaining about 20 percent of heritability. The study's findings prioritize many genes and pathways as important in skeletal growth during childhood, shedding light on the biology of height.
A new deep sequencing approach has identified subtle somatic mutations in patients with brain disorders, revealing previously missed genetic causes. The technique complements whole-genome and whole-exome sequencing, enabling the detection of mutations in as few as 10% of patients' blood cells.
A new computer algorithm called CellNet has been created to guide stem cell medicine by providing a 'quality assurance' measure for lab-created cells. The algorithm assesses the complex network of genes in engineered cells, comparing them to their real-life counterparts, and provides guidance on improving the engineering process.
Researchers found that only five trials were focused specifically on drug safety, and 14 drugs were approved without condition-specific trials or trials in children. The study calls for increased regulatory emphasis on long-term safety and efficacy, particularly for chronic use medications.
Researchers at Boston Children's Hospital found that musical training improves executive functioning in both children and adults. Musically trained individuals showed enhanced performance on cognitive tests and increased activation of specific brain areas associated with executive function.
Researchers at Boston Children's Hospital have made a significant breakthrough in regenerative medicine by reprogramming mature blood cells into blood-forming hematopoietic stem cells. The induced blood-forming stem cells (iHSCs) have functional hallmarks of HSCs and can give rise to all cellular components of the blood.
Researchers found that nearly one-third of pediatric kidney cancer cases are linked to the Lin28 gene, which holds promise for regenerating damaged kidneys. The study's findings suggest that controlled expression of Lin28 can promote kidney development and may lead to new therapeutic targets for treating Wilms tumors.
A longitudinal study by Boston Children's Hospital reveals that the negative effects of bullying can accumulate and worsen over time. The study found that children who experienced chronic bullying reported poor mental and physical health, including depressive symptoms and difficulties engaging in physical activities.
Researchers at Boston Children's Hospital have developed a new pathway to reverse lung diseases in mice by coaxing the production of healthy cells. By enhancing the natural signaling pathway, they successfully increased the production of alveolar epithelial cells, which line the small sacs where gas exchange takes place.
A new focused ultrasound exam has been shown to accurately identify athletes with undetected cardiovascular conditions, reducing the risk of sudden cardiac death. The Early Screening for Cardiovascular Abnormalities With Preparticipation Echocardiography (ESCAPE) protocol could become the sports medicine physical of the future.
A new study from Boston Children's Hospital found that pregnant mothers who consumed peanuts during pregnancy had a lower risk of their children developing peanut allergies. The research suggests that early exposure to peanuts may actually increase tolerance and reduce the risk of childhood food allergy.
A new study from Boston Children's Hospital found that a quality, payment initiative positively impacted pediatric care by improving preventive and acute care quality for the sickest pediatric patients. The study showed that children with chronic illness experienced higher quality gains.
A recent study by Boston Children's Hospital researchers has identified Tet1 as a crucial protein involved in wiping out genetic imprints from primordial germ cells. The findings could provide insights into the cause of certain neonatal growth defects, while also advancing the development of stem cell models of disease.
A multi-institutional study recommends cutting inpatient mortality for pediatric cardiac surgery patients by limiting clinical experience to less than two years. Nurse education preparation at the baccalaureate level or higher also improved mortality rates.
A study by Boston Children's Hospital reveals that brainstem abnormalities are present in infants who die suddenly and unexpectedly, regardless of their sleep environment. The researchers found that these abnormalities impair breathing, heart rate, and temperature control during sleep, making the babies vulnerable to sudden death.
Scientists at Boston Children's Hospital discover that enhancing cell metabolism is key to tissue repair, opening new avenues for regenerative treatments. They found that reactivating the dormant Lin28a gene enhances mitochondrial metabolism, leading to enhanced wound healing and regeneration.
Researchers at Boston Children's Hospital successfully grew human muscle cells in a dish using a combination of compounds identified through a rapid culture system. They also boosted muscle mass and reversed disease in a mouse model of Duchenne muscular dystrophy, paving the way for potential clinical trials.
A study published in JAMA Pediatrics found that 17.9% of adolescent boys in the US are extremely concerned about their weight and physique, leading to increased risk of drug use and binge drinking. Boys focused on muscularity were more likely to engage in unhealthy behaviors.
A new risk measure called a home score combines patients' symptoms and demographic information with local strep throat activity to estimate an individual's strep risk, empowering them to seek care appropriately. This innovative tool has the potential to eliminate 230,000 unnecessary doctor visits for strep throat in the US annually.
The drug, ProHema, was developed based on zebrafish studies and has shown promising results in a Phase I clinical trial. The trial demonstrated that treatment with the drug before transplant improved engraftment and reduced time to rebuild a patient's blood system.
A new approach turns iPSCs into hematopoietic stem and progenitor cells, enabling blood disease-specific animal models. The technique overcomes technical barriers to generate engraftable cells needed for human patient models.
A study of 41,133 mothers and children in Arkansas found that high pregnancy weight gain increases the risk of obesity in children through age 12. Researchers suggest that limiting pregnancy weight gain could help prevent childhood obesity.
A multi-institutional study found that a unique quality improvement methodology can effectively evaluate chest pain in children using minimal resources. The Standardized Clinical Assessment and Management Plans (SCAMPs) algorithm identified cardiac causes of chest pain while reducing testing utilization, with only 1% of patients having...
Researchers at Boston Children's Hospital found that invading bacteria themselves are the cause of pain during skin infections, rather than the body's immune response. The study also showed that activated pain neurons suppress the immune system, potentially helping bacteria become more virulent.
A study led by Boston Children's Hospital researchers found that triple-negative breast cancers rely on active proteasomes to survive. Inhibiting these proteins with existing medications like bortezomib may offer new treatment options for this aggressive type of cancer.
A study at Boston Children's Hospital found that a mother's perceived social status predicts her child's brain development and stress indicators. Children of mothers with low social status had increased cortisol levels and less activation of the hippocampus, a structure crucial for learning and reducing stress.
A new modular vaccine design called MAPS technology may generate vaccines conferring strong immunity at reduced cost and risk. The method allows for rapid construction of new vaccines that activate multiple arms of the immune system simultaneously against one or more pathogens, reducing the risk of adverse effects.
A large study from Boston Children's Hospital found that 61% of teenagers had been exposed to at least one potentially traumatic event, with girls more likely to develop PTSD than boys. Risk factors for developing PTSD include lack of both biological parents in the home and pre-existing mental disorders like ADHD.
A study by Boston Children's researchers found that the small intestine plays a crucial role in glucose regulation and resolves type 2 diabetes in rats after gastric bypass surgery. The intestine utilizes GLUT-1 to take glucose from circulation, swiftly stabilizing blood glucose levels.
Researchers at Boston Children's Hospital identified a genetic cause of severe obesity in mice with the Mrap2 gene mutation, which also affects humans. The study found that these individuals gained weight even on a controlled diet, highlighting a new understanding of metabolism and energy regulation.
Two proteins, TMC1 and TMC2, critical for hearing were identified by researchers at Boston Children's Hospital. The study found that these proteins form channels converting sound waves into electrical signals for the brain.
Researchers at Boston Children's Hospital found that split liver transplantation carries no increased risk of failure in recipients, allowing surgeons to save young patients and adults. By allocating infants and small children first and splitting available livers, doctors can virtually eliminate waitlist mortality for children.
A recent brain imaging study by Boston Children's Hospital suggests that consuming highly processed carbohydrates can stimulate the brain's reward and craving centers, leading to excessive hunger. Limiting high-glycemic index foods may help obese individuals control their appetite.
A new study shows that split liver transplants can last just as long as whole organs in young children, potentially reducing waitlist mortality rates. The data from 2,679 pediatric patients who received liver transplants between 1995-2010 indicates improved safety of partial livers.
A new study found that 9% of pediatric and adolescent heart transplant recipients experience non-adherence within two years of receiving their transplant. The risk of mortality among non-adhering patients is significantly higher, with a 26% chance of death within one year and 33% within two years.
Researchers at Boston Children's Hospital discovered a biomarker, WNT3, that helps pinpoint stem cell lines primed to develop into cells and tissues including pancreas, liver and bladder. This finding could simplify the process of selecting the right cell line for generating specific tissues for study.
A cross-sectional study found that bicycle helmet laws significantly reduced the risk of death and injury for children under 16 involved in bicycle-motor vehicle collisions. The study showed a 20% lower fatality rate in states with helmet laws, with an average annual reduction of 900 fatalities.
Researchers have identified a five-amino acid fragment of prosaposin that significantly reduces metastatic spread in mouse models of prostate, breast and lung cancer. The findings suggest a potential new approach to blocking metastasis in various cancers.
The SCAMPs platform, developed at Boston Children's Hospital, helps healthcare providers continuously improve their medical practice by reducing costs and improving patient outcomes. Successful outcomes associated with the platform include lower costs, reduced practice variation, and improved outcomes for various pediatric conditions.
A Boston Children's Hospital study correlates Facebook users' interests with obesity rates in cities and neighborhoods nationwide. The research suggests that areas with higher percentages of activity-related interests have lower obesity rates, while those with more television-related interests have higher rates.
A long-term follow-up study of 367 children with ADHD found that nearly a third still had ADHD as adults and were more likely to have psychiatric disorders, commit suicide, or be incarcerated. The study highlights the need for continued treatment and monitoring beyond childhood.
Researchers have identified a potent compound that activates immune responses in newborns' white blood cells substantially better than anything previously tested, potentially making vaccines effective right at birth. The compound, VTX-294, produced strong immune responses and triggered production of cytokines and co-stimulatory molecules.
Researchers analyzed EEGs from autistic children and found a structural difference in brain connections, including increased short-range and decreased long-range connections. This pattern may underlie autism's classic cognitive profile of focused tasks but poor integration across brain areas.
Researchers at Boston Children's Hospital used a social networking approach to investigate the magnitude of hypoglycemia and promote healthy behaviors among participants with diabetes. The study showed that engaging patients in research through social media can help augment traditional surveillance methods and lead to meaningful behavi...
Researchers identified several inherited mutations in genes linked to severe syndromes that also cause autism, including AMT, PEX7, and SYNE1. These milder mutations seemed to cause brain-specific disease, offering new insights into the genetic causes of autism.
Researchers at Boston Children's Hospital found that young humans can generate new heart muscle cells, challenging the accepted wisdom on human heart growth. The study's findings offer a potential new approach to treating heart failure in children by stimulating cardiomyocyte proliferation.
A new urine test using protein biomarkers may enable early diagnosis and treatment of Kawasaki disease, a rare but increasingly prevalent condition that can cause inflammation of blood vessels and lead to heart attacks. The test has shown promising results in distinguishing children with Kawasaki disease from those with other conditions.
Researchers have demonstrated a feasibility study for activating hemoglobin unaffected by the sickle cell mutation using an animal model. The study showed a five- to 20-fold increase in fetal hemoglobin production, paving the way for further research on correcting disease using gene therapy.
Exosomes from mesenchymal stem cells reduce lung inflammation and prevent pulmonary hypertension in a mouse model. The findings suggest exosome research could lead to new stem cell-based therapies for chronic lung disease and other inflammatory conditions.