Researchers found potential tools for controlling cytokine storm in children with juvenile arthritis and autoimmune diseases. The study identified two important molecules that control the severity of macrophage activation syndrome (MAS), a life-threatening condition.
A new genomics study has identified genetic patterns in children with CVID, a complex and unpredictable immune disorder. The researchers have developed a predictive algorithm that can distinguish CVID from healthy controls with 99% accuracy.
Researchers used an alternative cell signaling pathway to improve immune function in a 13-year-old boy with mild Wiskott-Aldrich Syndrome, a rare and deadly immunodeficiency disorder. The study achieved clinical laboratory benefits and represents a new treatment option for patients with WAS.
A new drug that targets a signaling-nuclear protein pathway has been shown to prevent heterotopic ossification, a painful buildup of bone tissue. The study's results offer great hope for the development of effective medications to treat this debilitating disease.
A new study found that primary care doctors are less likely to refer short girls for diagnostic testing compared to boys, leading to delayed diagnoses and treatment. Girls with growth faltering may go undiagnosed or be diagnosed later than boys, particularly those with Turner syndrome, a genetic condition that affects height.
A pilot study found that adding ECG to history and physical examination identified unsuspected cases of potentially serious heart conditions in healthy children. The study suggests that a low-cost screening might help identify children at risk for sudden cardiac arrest.
Researchers at Children's Hospital of Philadelphia found that feeding rats antioxidants during pregnancy prevented obesity and glucose intolerance in their offspring. The study suggests that preventing oxidative stress during pregnancy may lower the risk of childhood obesity.
Researchers found significant improvements in exercise performance during treatment with sildenafil compared to placebo, improving ventilatory efficiency and moderate exercise ability. The study suggests an overall improvement in physiology associated with single-ventricle heart disease.
Researchers identified new gene variants contributing to autism, disrupting brain development and nerve signaling. The study suggests multiple genetic paths to autism, with similar functional roles in the nervous system.
Researchers have identified a protein produced by HIV-1 that drives infected cells out of dormancy and into the cell cycle. This finding sheds light on how HIV reactivates after entering a dormant state and may lead to new treatments for people with HIV infection.
Researchers found that whole blood retains its clotting properties at least 11 days under standard refrigeration, potentially improving survival in war injuries and disasters. This discovery could lead to a change in clinical practice and improve the availability of whole blood for specific situations.
The Jeffrey Modell Endowed Chair in Pediatric Immunology Research will advance research into primary immunodeficiency diseases, enabling early diagnosis and treatment to prevent permanent damage. Dr. Orange is renowned for studying natural killer cells and innate immune system biology.
A landmark study by the Children's Hospital of Philadelphia shows fetal surgery for spina bifida can improve outcomes for children with the condition. Fetal surgery significantly reduced the need to divert fluid from the brain, improved mobility, and increased the chances that a child will be able to walk independently.
Childhood cancer researchers have identified checkpoint kinase 1 (CHK1) as a potential new treatment target for neuroblastoma. By blocking CHK1 activity, chemotherapy can be made more effective against the cancer cells.
A meta-analysis of over 100,000 DNA samples identified variants in two dozen previously unknown height genes, as well as confirmed associations with 30 known height genes. The study used a dense gene chip to discover genetic variants linked to complex traits and diseases.
Researchers identify genetic alterations in medulloblastoma tumors, including mutations in tumor suppressor genes MLL2 and MLL3. This could lead to the development of targeted therapies for children with this type of brain cancer.
Dr. Douglas Coulter, a neuroscientist at the Children's Hospital of Philadelphia, has received the American Epilepsy Society's 2010 Epilepsy Research Recognition Award for Basic Science. His pioneering contributions have focused on understanding altered brain cell and circuit function in epilepsy development.
Researchers at The Children's Hospital of Philadelphia have discovered a new gene, LMO1, as a significant contributor to neuroblastoma, the most common solid cancer of early childhood. Variants in this gene increase the risk of developing aggressive forms of neuroblastoma and mark the gene for continued disease progression.
Researchers found a duplicated region of DNA on chromosome 5 predisposes people to major depression, implicating disruptions in neurotransmission networks. The study identified 12 copy number variations exclusive to MDD cases, with a large duplication of the SLIT3 gene contributing to the risk.
Vivian Cheung, a geneticist at The Children's Hospital of Philadelphia, received the Curt Stern Award for her pioneering work on human gene expression and its impact on disease risks. Her research has transformed the scale of human genetic studies, enabling researchers to analyze thousands of genes simultaneously.
Researchers found intriguing clues to genes associated with anorexia nervosa, including genes active in neuronal signaling and shaping interconnections among brain cells. The study also identified several rare CNVs that occurred only in AN cases, suggesting that both common SNPs and rare CNVs contribute to the disorder.
Researchers achieved marked clinical improvements in two young children with Wiskott-Aldrich syndrome through gene therapy, correcting immunodeficiency and reducing complications. The treatment is a promising step forward for patients with this rare and severe disorder.
Pediatric researchers at Children's Hospital of Philadelphia developed a program to guide mothers in breast-feeding their newborns with complex birth defects. The Transition to Breast Pathway improved breast-feeding rates, reduced infant stays in the NICU, and lowered the risk of necrotizing enterocolitis.
Researchers from the Children's Hospital of Philadelphia report that two-thirds of fetuses with HLHS have a strong chance of survival after reconstructive surgery. The study, which analyzed 240 cases over five years, found that standard-risk fetuses had a higher survival rate compared to high-risk cases.
Researchers identified 17 copy number variations associated with childhood obesity, exclusive to obese children across two ethnicities. The study adds to the evidence that genes play a strong role in childhood obesity, highlighting potential genetic influences for prevention and treatment.
The Children's Hospital of Philadelphia is establishing a collaborative organization to focus on neurodevelopmental disabilities, including autism spectrum disorders and ADHD. The Network will bring together experts from leading pediatric programs to develop effective treatments and interventions.
A new immunotherapy treatment has improved two-year survival rates for high-risk neuroblastoma patients by 20 percent compared to standard treatment. Researchers report a higher cure rate, but also more pain and toxic side effects.
Researchers discovered a new biological pathway where microRNA helps protect red blood cells from injury caused by chemicals called free radicals. The study found that the microRNA regulates gene activity by acting on an unexpected signaling pathway, which may have medical implications beyond blood cell development.
A new recurrent translocation between chromosomes 8 and 22 has been found to cause a range of genetic diseases. The disorder, characterized by mild mental retardation and developmental delays, is thought to arise from palindromic sequences in the DNA that are prone to breakage and rearrangement.
A new study published in Pediatrics found that cardiopulmonary bypass during heart surgery for less complicated congenital heart defects in school-aged children does not affect their cognitive abilities. Researchers compared the outcomes of 35 children who underwent open-heart surgery with non-cardiac surgical patients and non-surgical...
A recent study has discovered that a protein known for its role in type 2 diabetes may also be involved in heart disease and other metabolic disorders. The findings suggest potential drug targets among gene networks, offering new avenues for treatment.
Research suggests that female brains are more responsive to low levels of a key stress hormone and less able to adapt to high levels compared to male brains. This may help explain the higher incidence of depression, PTSD, and other anxiety disorders among women.
Recent advances in neuroblastoma research have led to a better understanding of the disease's genetic landscape, including common DNA variations on chromosome 6 and mutations in the ALK gene. Innovative therapies such as immunotherapy trials using monoclonal antibodies and cytokines are also being explored.
A new surgical procedure has been shown to improve survival rates in infants with hypoplastic left heart syndrome (HLHS), a severe form of congenital heart disease. Researchers compared two techniques used in the initial stage of surgery and found that the newer technique, RVPA shunt, resulted in higher survival rates at 12 months.
A genetic variant in the ISL1 gene has been identified as a strong risk factor for congenital heart disease, which affects at least one in 100 live births. The study found that different variants of the gene increase the risk of CHD in white and African American children.
Researchers identified protein Ash2l as a crucial partner of Tbx1, regulating early embryonic development and gene activity. The study provides insight into the biological events leading to chromosome 22q.11 deletion syndrome, which often includes congenital heart defects.
Researchers identified copy number variations in genes that affect brain signaling, increasing the risk of schizophrenia. The study found overlaps with genes involved in autism and attention-deficit hyperactivity disorder, suggesting common pathogenesis mechanisms.
A new approach detects rare but powerful causal gene variants, accounting for significant proportions of the 'missing heritability' problem in common diseases. The technique may identify individual patients with specific mutations, enabling more meaningful diagnostic results and potential treatments.
Researchers discovered that changes in astrocytes disrupt signal control, leading to seizures. The study found that altering reactive astrocytosis reduced inhibition, allowing neurons to fire out of control and potentially developing new treatments for epilepsy.
A four-year grant supports the development of updated growth charts based on data from 600 children with Down syndrome. The charts will better represent growth patterns and body mass index changes, enabling healthcare professionals to plan treatment and design preventive health programs.
Researchers successfully delivered paclitaxel using magnetically guided nanoparticles to treat rat arteries, achieving better results at lower doses than conventional therapy. The technique has potential for treating patients with vascular disease and offers opportunities for varying treatment doses and repetition.
Researchers found that some genes have opposing effects on the risk of developing both autoimmune diseases, while others may increase the risk for both. The study suggests a possible genetic switch that could be triggered by specific infectious agents.
A study found a region of chromosome 5 associated with eosinophilic esophagitis, a severe and painful type of food allergy that can cause weight loss, vomiting, and swallowing difficulties. The likely culprit is the gene TSLP, which has higher activity levels in children with EoE compared to healthy subjects.
A study by pediatric researchers found that children can experience recurrent strokes, with 13% of patients experiencing a recurrence within a month of their first stroke. Early recognition and treatment are crucial to prevent further recurrences and promote recovery.
Fetal surgery continues to evolve with advancements in prenatal diagnosis and surgical techniques. Experts at the Children's Hospital of Philadelphia describe innovative procedures for treating rare defects, including lung masses, sacrococcygeal teratomas, and spina bifida.
Researchers at Children's Hospital will engineer human cells into new tissues to treat blood diseases, cancer, and other disorders. Two NIH grants focus on developing embryonic stem cells for platelet supplies and induced pluripotent stem cells for custom-tissue production.
A study published by Dr. Stephanie Fuller at the Society of Thoracic Surgeons found that deep hypothermic circulatory arrest (DHCA) does not impair language skills, attention, and other neurocognitive abilities in school-age children. The use of DHCA was not predictive of worse performance for any neurodevelopmental outcome.
Researchers challenge conventional interpretations of genome-wide association studies, finding synthetic associations between rare and common gene variants that produce signals similar to those found in actual disease studies. This suggests that researchers may need to broaden their search to pinpoint these powerful mutations.
Scientists discovered that Gata5 gene cooperates with Gata4 to direct the heart's normal structure formation during early development. This finding contributes to understanding how heart defects may occur in humans.
Researchers at Children's Hospital of Philadelphia found a delayed brain response to sound in children with autism spectrum disorders (ASDs), which may be refined into the first imaging biomarker. The study used magnetoencephalography (MEG) to detect subtle language delays, potentially leading to earlier diagnosis and treatment.