Researchers at Children's Hospital of Philadelphia have discovered two gene variants that increase the risk of neuroblastoma and promote its progression. These variants in HACE1 and LIN28B genes were found to exert opposite effects, with low expression of HACE1 and high expression of LIN28B correlating with worse patient survival.
Researchers identified a key gene mutation causing Cornelia deLange syndrome, a childhood genetic disease. Mutations in the HDAC8 gene disrupt cellular recycling of cohesin, leading to impaired gene transcription and embryonic development.
Donna McDonald-McGinn, a leading expert on chromosome 22q11.2 deletion syndrome, has made groundbreaking contributions to understanding and treating the condition. Her extensive research and advocacy efforts have improved patient outcomes and care.
A pilot study found that an investigational drug called exendin-(9-39) controls blood sugar levels in people with congenital hyperinsulinism. The study showed promising results, suggesting the potential for a new medical treatment for children with this rare disease.
A recent study found that premature babies born in high-tech, high-volume hospitals have a higher chance of survival compared to those born in non-specialized facilities. The research, analyzing over 1.3 million births, revealed a 300% improvement in survival rates for preterm infants.
Researchers at The Children's Hospital of Philadelphia found a strong relationship between mortgage foreclosures and child physical abuse hospital admissions. Despite a decline in national child abuse statistics, the study reveals a significant increase in severe cases over the last decade.
Dr. Douglas Wallace's groundbreaking work on mitochondria has led to a better understanding of their role in human evolution and disease. His research has also shed light on ancient human migration patterns and the link between mitochondrial DNA mutations and various diseases.
Dr. Rebecca Ruebner's study found that end-stage kidney disease is relatively uncommon in children after liver transplantation, occurring in 2% of patients. However, children who develop end-stage kidney disease have a high mortality rate, highlighting the importance of closely following them for early signs of kidney disease.
Researchers at Children's Hospital of Philadelphia have developed approaches to control long-range genomic interactions during gene expression. By identifying a looping factor, they showed that chromatin looping is a cause, not an effect, of gene transcription.
Researchers discovered mutations in the RAD21 gene that cause mild cognitive and physical impairments, similar to cohesin disorders. The study suggests children with mild symptoms may go undiagnosed.
A phase 1 clinical trial of the drug crizotinib achieved remissions with minimal side effects for 10 children with lymphoma and neuroblastoma. The study showed great potential for targeted therapy in children with anaplastic large cell lymphoma, with some patients achieving complete responses.
Dr. Yael Mosse will be honored with the first James B. Nachman ASCO Junior Faculty Award in Pediatric Oncology at the ASCO Annual Meeting. Her groundbreaking research on neuroblastoma has led to major advances in treatment, including a national clinical trial of a new drug treatment.
Researchers found that sildenafil improved echocardiographic measures of heart function in children and young adults with single ventricle heart disease palliation. The study suggests a potential advance in managing patients with these types of heart defects.
Researchers have discovered a key biological pathway driving B cell lymphoma and found that targeting the CD19 protein could represent a powerful tool against the disease. The study suggests that understanding this pathway could enable the design of more specific therapies that selectively kill tumor cells while sparing healthy B cells.
A national study from PolicyLab at The Children's Hospital of Philadelphia examines prescription patterns of psychoactive medications in 48 states. The research shows a decline in the use of other psychoactive medications but highlights concerns about the high rates of antipsychotic prescriptions among children in foster care.
Dr. Tom Curran, a leading expert in childhood brain cancer, has been elected to the American Academy of Arts and Sciences. He joins an elite group of scholars and scientists who have made significant contributions to their fields.
Researchers found that teen drivers in states with primary enforcement laws are more likely to wear seat belts, both as drivers and passengers. The study also showed that strong seat belt laws can narrow safety disparity gaps among specific groups of teens.
Researchers have identified two new gene variants linked to an increased risk of common childhood obesity, highlighting a genetic predisposition to the condition. The study analyzed data from over 5,500 cases of childhood obesity and found novel loci associated with the disease.
Researchers have developed a new type of human stem cell called endodermal progenitor cells, which can differentiate into multiple cell types, including functioning pancreatic beta cells. The cells show promise for modeling human diseases and may offer a potential source for future diabetes treatments.
A large multicenter trial found that surgical management had no significant impact on neurodevelopmental outcomes at 14 months of age for infants with single-ventricle heart defects. Instead, innate patient characteristics and general medical morbidity during the first year of life played a crucial role in shaping these outcomes.
A new study reveals how an invading virus hijacks a cell's signaling system by mimicking a cellular marker to defeat the body's defenses. This finding may represent a broader targeting strategy used by other viruses.
Researchers used the Cardiochip gene analysis tool to investigate a specific gene variant linked to inflammation and heart disease. They found that an existing anti-inflammatory drug may offer a new potential approach for preventing CHD by targeting the interleukin-6 receptor.
The International Association of Physicians in AIDS Care published new evidence-based guidelines to overcome barriers to optimal HIV care. The guidelines address key areas such as entry into care, monitoring adherence, and education, with a focus on special populations like children and adolescents.
Vascular Magnetics, spun off from Children's Hospital of Philadelphia, is developing a drug delivery system that uses magnetically targeted nanoparticles to treat peripheral artery disease. The company has raised $7 million in funding and plans to begin clinical trials in 2014.
Researchers have developed an early warning algorithm to detect children's early cardiac deterioration before inpatient arrest. Additionally, studies suggest that patients with conotruncal defects should be screened for chromosome 22q11.2 deletion syndrome, which can improve treatment outcomes.
A new study found significant brain differences in high-risk infants who later developed autism, starting as early as 6 months. Infants with autism had elevated white matter fiber tract development at birth, but slower growth over time, suggesting potential early interventions.
Children with obstructive sleep apnea showed significant improvements in attention deficits, daytime sleepiness, and behavioral problems after treatment with positive airway pressure (PAP) therapy. The study found benefits even when children only used PAP for a few hours a night.
A large-scale genetic screening of over 17,000 individuals with Type 2 diabetes and 70,000 control subjects identified nearly 40 gene variants associated with the disease. The study found that many gene variants overlap across multiple ethnic groups, providing new insights into the biological targets for developing more effective drugs.
Researchers successfully improved vision in three adult patients who previously received gene therapy in one eye, achieving better light sensitivity and navigating obstacles in dim light. No immune reactions occurred during the readministering treatment, and unexpected benefits were observed in brain responses.
Studies found that teen passengers, particularly thrill-seekers with weak perceptions of driving risks, can distract drivers and promote aggressive behavior. Experts recommend limiting passenger numbers for teens during their first year of driving to reduce crash risk.
A pediatric research project aims to collect long-term clinical data on children with conditions detected in newborn screening, enabling researchers to develop new tests and interventions. The project has the potential to transform treatments for rare childhood diseases.
A study by Children's Hospital of Philadelphia found that two-thirds of teens with high-functioning autism disorder are already driving or planning to drive. Predictive characteristics include being at least 17 years old, having a parent who taught another teen to drive, and including driving-related goals in their IEP.
A new grant from the National Human Genome Research Institute (NHGRI) aims to explore social and ethical issues surrounding clinical genome sequencing. The Children's Hospital of Philadelphia is one of five U.S. centers, focusing on pediatrics, to receive a four-year Clinical Sequencing Exploratory Research Project award.
Researchers have identified genetic variants in glutamate receptor genes that may contribute to attention-deficit/hyperactivity disorder (ADHD). The study found alterations in four genes involved in brain signaling pathways, which could lead to new treatment options for patients with ADHD who have these gene variants.
Researchers studied nearly 1,000 children in crashes and found no increased injury risk for a broad weight range. The current range of child safety seats and booster seats accommodates various body sizes, including heavier children.
Pediatric oncologists and biochemists advance treatment options for neuroblastoma by studying tumor biology at the molecular level. The study found that certain ALK mutations make cancer cells more resistant to crizotinib, but increasing dosage may overcome this resistance.
The Children's Hospital of Philadelphia is investigating a novel drug approach to control and cure HIV infection. The hospital will study the potential of synthetic BET family protein antagonists to flush HIV out of its hiding places, where it can be destroyed by other antiretroviral drugs.
A three-year $600,000 grant will explore how adaptive technology can make personal health records accessible to people with disabilities. Project staff will systematically observe consumers and develop guidelines and recommendations for better accessibility.
Researchers found that administering a diabetes drug to newborn animals prevents the development of diabetes in adulthood. The study suggests an important developmental window for intervention to protect insulin-producing cells.
Researchers have developed a genetically engineered clotting factor that controls bleeding in animal models of hemophilia. The variant protein is safer and more effective than existing treatments, with potential to treat a range of bleeding disorders.
The study found a significant increase in knee injuries among children, with ACL and meniscus tears increasing by 11% and 14% respectively. The researchers suggest that injury patterns are changing, leading to an increased true incidence of these injuries.
A large-scale genetic study has uncovered new genes associated with type 1 diabetes, a condition affecting 200 million people worldwide. The research adds to knowledge of gene networks involved in the origin of this complex disorder.
A study by Children's Hospital of Philadelphia found that optimal sleep duration for teenagers can help stabilize blood sugar levels and insulin secretion. The researchers discovered that 7.5-8.5 hours of sleep per night may protect against the development of type 2 diabetes in obese adolescents.
Researchers used a 'super-res' microscope to study the immune system and found that granules from natural killer cells pass through openings in dynamic cell structures to destroy tumor cells and infected cells. This discovery may lead to more effective treatments for inherited diseases that impair the immune system.
Researchers used genome editing to treat hemophilia in mice by precisely targeting and repairing mutated DNA. The treatment, which uses zinc finger nucleases, showed clinically meaningful results with no toxic effects or complications.
A research team has identified the disease-causing mutation in a newly characterized rare genetic disease using DNA from just a few individuals. The VAAST tool, developed by Mark Yandell and Martin G. Reese, uses rapid and accurate gene-sequencing techniques to pinpoint mutations in individual patients.
The Genome Wowser app allows researchers to navigate the human genome using an intuitive interface on an iPad. The app provides interactive tools for exploring genomic information, including annotations, zooming capabilities, and drag-and-swipe navigation.
Pediatric hematologist Mitchell J. Weiss and colleagues identified a rare hemoglobin mutation, named after the patient's hometown of Toms River, N.J., that causes temporary blue coloration and anemia. The mutation has mild effects and disappears within months of birth.
Studies by CHOP researcher Jeffrey H. Silber found that surgical patients in hospitals with more aggressive treatment styles had lower mortality rates within 30 days of admission compared to less aggressive hospitals.
A study published in EMBO Molecular Medicine suggests a novel therapy for mitochondrial diseases in children, using the oral drug probucol. The research reveals that probucol prevents and reverses kidney disease in mice with a genetic deficiency, raising levels of coenzyme Q10 and correcting signaling abnormalities.