Pediatric researchers have discovered a new biological pathway in which small segments of RNA, called microRNA, help protect red blood cells from injury caused by chemicals called free radicals.
A pediatric research team continues to discover recurrent translocations—places in which two chromosomes exchange pieces of themselves, and can lead to genetic disease and disability.
School-aged children who undergo cardiopulmonary bypass during surgery for less complicated congenital heart defects do not appear to suffer impairments in intelligence, memory, motor skills and behavior.
Studying a protein already known to play an important role in type 2 diabetes and cancer, genomics researchers have discovered that it may have an even broader role in human disease.
There may be a biological reason why depression and stress-related disorders are more common among women than men. Neuroscientists have found that female animals are more sensitive to an important stress hormone.
Pediatric oncologist John M. Maris, M.D., describes the current state of the science in combating neuroblastoma, the most common solid cancer of early childhood, in a review article in the June 10 New England Journal of Medicine.
The Children’s Hospital of Philadelphia announces the availability of proton therapy, a precise form of cancer radiation that offers potentially life-changing benefits to children with brain tumors and other solid tumors.
Pediatric researchers report that a recently introduced surgical procedure offers infants with severely underdeveloped hearts a better chance at surviving during their first year of life, in comparison to the standard surgery.
Although congenital heart disease represents the most common major birth defect, scientists have not previously identified the common variation in the genes that give rise to it. Now genetics and cardiology researchers, two of them brothers, have discovered a genetic variant on chromosome 5 that strongly raises the risk of congenital heart disease.
Researchers studying the common genetic disorder chromosome 22q.11 deletion syndrome have identified key proteins that act together to regulate early embryonic development. One protein is essential to life; in animal studies, embryos without the protein do not survive past the first few days of gestation.
By analyzing the genomes of patients with schizophrenia, genetics researchers have discovered numerous copy number variations—deletions or duplications of DNA sequences—that increase the risk of developing schizophrenia. Significantly, many of these variations occur in genes that affect signaling among brain cells.
In findings that may speed the search for disease-causing genes, a new study challenges the prevailing view that common diseases are usually caused by common gene variants (mutations). Instead, the culprits may be numerous rare variants, located in DNA sequences farther than expected from the original genetic “hot spots.”
Neuroscience researchers have zeroed in on a novel mechanism that helps control the firing of electrical signals among neurons. By isolating the molecular and electrical events that occur when this control is disrupted, the new research sheds light on epileptic seizures and potentially on other diseases involving poorly regulated brain activity.
Growth charts used for children with Down Syndrome are based on data collected more than 25 years ago. Now researchers at The Children's Hospital of Philadelphia will be measuring children with Down syndrome to develop updated growth charts for broad distribution, to help pediatricians better monitor development and plan treatment.
Scientists and engineers have used uniform magnetic fields to drive iron-bearing nanoparticles to metal stents in injured blood vessels, where the particles deliver a drug payload that successfully prevents blockages in those vessels. In this animal study, the novel technique achieved better results at a lower dose than conventional non-magnetic stent therapy.
Pediatric researchers analyzing DNA variations in type 1 diabetes and inflammatory bowel disease have found a complex interplay of genes. Some genes have opposing effects, raising the risk of one disease while protecting against the other. In other cases, a gene variant may act in the same direction, raising the risk for both diseases.
Pediatrics researchers have identified the first major gene location responsible for a severe, often painful type of food allergy called eosinophilic esophagitis (EoE). In this disease, which may cause weight loss, vomiting, heartburn and swallowing difficulties, a patient may be unable to eat a wide variety of foods.
Gene therapy for inherited blindness, which produced dramatic improvements last year in 12 children and young adults, has cleared another hurdle. The same research team that conducted the human trial now reports that an animal study shows that a second injection of genes into the opposite, previously untreated eye is safe and effective.
Children can have strokes, and the strokes can recur, usually within a month, according to pediatric researchers. Unfortunately, the strokes often go unrecognized the first time, and the child does not receive treatment before the recurrence.
Repairing birth defects in the womb. Inserting a tiny laser into the mother’s uterus to seal off an abnormal blood flow and save fetal twins. Advancing the science that may allow doctors to deliver cells or DNA to treat sickle cell anemia and other genetic diseases before birth. These are examples of the still-emerging field of fetal surgery.
Two large federal grants recently awarded to The Children’s Hospital of Philadelphia will advance the frontiers of research into therapies that manipulate human cells to benefit patients. One grant focuses on developing hESCs to improve platelet supplies. Another program concentrates on iPSCs, a potential source of healthy replacement tissues.
Congenital heart defects are the most common birth defects in humans, with one third of affected children requiring intervention in infancy. While neurobehavioral symptoms have been identified in some of these children, a study now suggests that a cooling technique often used in heart surgery does not impair neurological outcomes.
In the decade since the Human Genome Project produced the first map of DNA sequences in the human genome, scientists have combed through genome data to identify genes and gene variants that cause human disease. A new study suggests that researchers may need to search farther afield to pinpoint rare but powerful disease-causing mutations.
Studying genes that regulate early heart development in animals, scientists have solved a puzzle about one gene’s role, finding that it acts in concert with a related gene. Their discovery contributes to understanding how the earliest stages of heart development may go awry, resulting in congenital heart defects in humans.
Children with autism spectrum disorders (ASDs) process sound and language a fraction of a second slower than children without ASDs, and measuring magnetic signals that mark this delay may become a standardized way to diagnose autism. The pattern of delayed brain response could become the first imaging biomarker for autism.
Pediatric researchers have identified a novel gene involved in childhood asthma, in one of the largest gene studies to date of the common respiratory disease. Because the gene, called DENND1B, affects cells and signaling molecules thought to be important in the aberrant immune system response seen in asthma, the discovery may suggest a new therapeutic target.
A landmark autism study and a dramatic success for gene therapy in reversing inherited blindness, both at The Children’s Hospital of Philadelphia, were recognized among the top scientific achievements in 2009, according to three national publications.
Building materials that better retain heat in the winter, and reflect it in the summer; plumbing fixtures that save water; and facilities that encourage employees to bicycle to work. Environmentally-friendly features like these enable the new research building at The Children’s Hospital of Philadelphia to be certified as a green structure.
Autism research led by scientists at The Children’s Hospital of Philadelphia has been named one of the top ten medical breakthroughs of 2009 by Time Magazine. Time cited the Hospital's largest-ever genetic study of autism spectrum disorders, which identified a gene region that affects how brain cells connect with each other in early childhood.
Peter C. Adamson, M.D., a pediatric oncologist and leading scientist at The Children’s Hospital of Philadelphia Research Institute, has been selected to lead the Children’s Oncology Group (COG) in its efforts to find cures for children with cancer. He was elected by principal investigators of more than 200 COG sites.
Neurology researchers have shown that feeding amino acids to brain-injured mice restores their cognitive abilities and may set the stage for the first effective treatment for cognitive impairments suffered by people with traumatic brain injuries. Every 23 seconds, a man, woman or child in the U.S. suffers a traumatic brain injury.
Pediatric researchers have found that a gene already implicated in the development of type 2 diabetes in adults also raises the risk of being overweight during childhood. The finding sheds light on the genetic origins of diabetes and may present an avenue for developing drugs to counteract type 2 diabetes, currently increasing among youths.
Pediatric oncologists have identified specific genes, dubbed partner genes, that fuse with another gene to drive an often-fatal form of leukemia in infants. By more accurately defining specific partner genes, researchers expect to better predict which infants may benefit from particular treatments. They also aim to develop new molecularly targeted therapies.
A pediatric immunologist at The Children’s Hospital of Philadelphia has received a prestigious annual award from the American Philosophical Society, an organization founded in 1743 by Benjamin Franklin. Jordan S. Orange, M.D., Ph.D., received the Judson Daland Prize on Nov. 13 for his work in inherited immune deficiency diseases.
After treatment with sildenafil, heart function significantly improved in children and young adults with single-ventricle congenital heart disease who have had the Fontan operation. Sildenafil is a drug commonly used to treat erectile dysfunction and pulmonary hypertension.
In the largest, most comprehensive genetic analysis of childhood-onset inflammatory bowel disease (IBD), an international research team has identified five new gene regions, including one involved in a biological pathway that helps drive the painful inflammation of the digestive tract that characterizes the disease.
Boys diagnosed with cancer before reaching puberty have a unique option for possibly preserving future fertility, which is often endangered by cancer therapies. Boys can have a tiny portion of their testis removed and frozen for their potential future use. Parents of prepubertal boys are highly receptive to the option, even without a guarantee of clinical success.
When do you first leave the nest? Early in development infants of many species experience important transitions—such as learning when to leave the protective presence of their mother to start exploring the wider world. Neuroscientists have now pinpointed molecular events occurring in the brain during that turning point.
Researchers from the Center for Cellular and Molecular Therapeutics at The Children’s Hospital of Philadelphia and from the University of Pennsylvania School of Medicine used gene therapy to safely improve vision in five children and seven adults with Leber’s congenital amaurosis. The greatest improvements occurred in the children.
A $6 million, five-year federal grant supports research on a novel approach in treating HIV infection---a unique class of drugs with potential for addressing psychological and neurological effects in AIDS. Targeting the neurokinin-1 receptor in immune cells, the researchers will study antiviral activity plus effects on depression-like symptoms.
Scientific understanding and medical treatments for autism spectrum disorders (ASDs) have advanced significantly over the past several years, but much remains to be done. In a scientific review of the field, experts highlight the expanding knowledge of early brain development and the role of early diagnosis of ASDs, accompanied by intensive early treatment.
A prominent scientist at Children’s Hospital, Thomas Curran, Ph.D., FRS, has been elected to the Institute of Medicine. Dr. Curran has long been a leading researcher in pediatric oncology. His research focuses on the molecular biology of the brain's growth and development, with the goal of finding new treatments for childhood brain tumors.
A sophisticated computational algorithm, applied to a large set of gene markers, has achieved greater accuracy than conventional methods in assessing individual risk for type 1 diabetes. The technique, applied to appropriate complex multigenic diseases, may improve prospects for personalizing medicine to an individual’s genetic profile.
Researchers studying a large sample of adolescent American boys have found an association between metabolic syndrome, which is a complication of obesity, and elevated liver enzymes that mark potentially serious liver disease. Among non-Hispanic adolescent boys, this association occurred independent of obesity.
Researchers are delving into abnormal gene function in mitochondria, structures within cells that power our lives by generating energy from food. A new study sheds light on mitochondrial biology and points to genes that might be targeted in potential treatments for mitochondrial diseases, which affect a wide range of organ systems.
In the largest study of its kind, researchers at The Children’s Hospital of Philadelphia have received a federal contract to study the most beneficial method of using antibiotics to treat urinary tract infections (UTIs) in children. The clinical trial will study whether a short course of antibiotics is effective, while reducing the risk of drug resistance.
Researchers have resolved an apparent contradiction in prenatal cell transplantation - a technique that holds future promise in correcting sickle cell disease and other congenital blood disorders. In an animal study, in the absence of the maternal immune response, researchers confirmed that the early-gestation fetus showed immune tolerance to cell transplants 100% of the time.
Pediatric researchers have found that a gene previously shown to be involved in the development of type 2 diabetes also predisposes children to having a lower birth weight. The finding sheds light on a possible genetic influence on how prenatal events may set the stage for developing diabetes in later childhood or adulthood.
New research from The Children's Hospital of Philadelphia sheds light on the role of cell receptors in acting as gatekeepers for infectious viruses. By using mice genetically engineered to lack a particular receptor in heart and pancreas cells, the study team prevented infection by a common virus (Group B coxsackievirus) that causes potentially serious diseases in humans.
Genetics researchers have unveiled a powerful new resource for scientists and health providers studying human illnesses--a reference standard of deletions and duplications of DNA found in the human genome. Drawn from over 2,000 healthy persons, the study provides one of the deepest and broadest sets of copy number variations available to date, along with a new research tool for rapid diagnosis.
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