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For the first time, scientists have performed prenatal gene editing to prevent a lethal metabolic disorder in laboratory animals, offering the potential to treat human congenital diseases before birth. The research offers proof-of-concept for prenatal use of a sophisticated, low-toxicity tool that efficiently edits DNA building blocks in disease-causing genes.

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Scientists using a powerful new technology that sequences RNA in 20,000 individual cell nuclei have uncovered new insights into biological events in heart disease. In animal hearts, the researchers identified an array of cell types and investigated the “transcriptional landscape” in rich detail.

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Maybe the genetic test report your doctor ordered says your DNA contains many “variants of unknown significance.” But suppose at a later date a researcher discovers one of those changes causes a disease? How will you learn this new piece of information? You can’t even be sure your doctor will find out about it.

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Severe weather events, such as summer hurricanes, tornadoes, and winter snow storms often result in widespread and prolonged power outages, interrupting essential household functions, including home heating. In such a scenario, people may use generators and risk carbon monoxide poisoning.

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Differences in the DNA within the mitochondria, the energy-producing structures within cells, can determine the severity and progression of heart disease caused by a nuclear DNA mutation. When combined with a nuclear DNA mutation in mice, one mitochondrial variant made heart disease worse, while another variant conferred protection.

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Pediatric researchers have identified a gene mutation that causes a serious lymphatic condition, and used that knowledge to restore normal lymphatic vessels in model animals. The laboratory findings may lead to a new therapy for patients with this type of abnormal lymphatic circulation. Abnormal lymphatic flow may cause respiratory distress and other serious symptoms.

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Oncologists from Children’s Hospital of Philadelphia today celebrated a watershed moment in medicine: approval by the European Commission of Kymriah (tisagenlecleucel, formerly CTL019) --the first-ever FDA-approved personalized CAR T-cell gene immunotherapy for aggressive blood cancers, pioneered together with Novartis and the Perelman School of Medicine at the University of Pennsylvania.

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Researchers who tested two commercially available baby monitors are raising serious concerns about the accuracy of these products, which are marketed to parents, but are not regulated by the U.S. Food & Drug Administration.

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Elijah Patino is a happy, healthy seven-year-old now, but it took a while to get there. For much of his life, he had a mysterious disease that made it painful to eat and painful to play. A pediatric immunologist resolved this "diagnostic odyssey" by identifying the molecular cause of this autoimmune condition, then crafted a low-dose immunosuppressive regimen to provide a precise treatment.

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Mothers of critically ill infants may not receive necessary breastfeeding support, because their babies may be taken directly to a newborn intensive care unit or to surgery. Lactation expert Dr. Diane Spatz, of Children’s Hospital of Philadelphia, presents an alternative model for healthcare providers to care for vulnerable hospitalized infants, separated from their mothers.

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The Philadelphia Pediatric Medical Device Consortium (PPDC) has announced its latest round of seed grants to companies developing medical devices for children. The Consortium, based at Children's Hospital of Philadelphia, chose six companies from among 10 finalists in a competition to receive seed grants of up to $50,000.

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Medical researchers have identified a key signaling protein that regulates hemoglobin production in red blood cells, offering a possible target for a future innovative drug to treat sickle cell disease. Tests in human cells reveal that blocking the protein reduces the characteristic sickling that distorts the shape of red blood cells and gives the disease its name.

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A multi-hospital collaboration led by researchers at Children’s Hospital of Philadelphia (CHOP) has found a simple method of determining which premature infants should be screened for retinopathy of prematurity (ROP).

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A new study from a team of researchers at Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania School of Nursing (Penn Nursing) found that in the previous three months, about half of parents talked on a cell phone while driving when their children between the ages of 4 and 10 were in the car, while one in three read text messages and one in seven used social media.

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Children with known skin, food and respiratory allergies should be screened for an emerging food allergy called eosinophilic esophagitis (EoE), a painful inflammation of the esophagus. Pediatric allergists who analyzed a very large group of children say that EoE is a later component of the “allergic march”-- in which many children successively develop a series of allergies.

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A pair of recent studies performed by researchers at Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania represents a significant step forward in understanding the role of the brain’s “reward circuit” and certain hallmarks of autism spectrum disorder (ASD), namely difficulty interpreting or engaging in typical social behavior and restricted or repetitive interests or behaviors.

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A team of ear, nose, and throat (ENT) specialists has demonstrated that eating honey after swallowing a button battery has the potential to reduce serious injuries in small children.

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As clinical trials gear up with the aim of attaining the first FDA-approved treatments for mitochondrial disease, a new study reports for the first time what patients and families say would motivate them for or against participating in such research trials.

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Children who undergo surgery for congenital heart disease have lower survival rates by three years of age if there are specific problems during fetal development, such as hypertension in the mother or the newborn being born preterm or small for gestational age. These problems are considered markers of an impaired maternal-fetal environment.

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Dr. James Callahan, emergency medicine physician and co-author of the May 2018 AAP policy statement on Life Support Training, is available to speak with the media. He says that even very young children can be taught to call for help and also how to operate an automated external defibrillator (AED).

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Pediatric researchers have found that children and adults treated with some oral antibiotics have a significantly higher risk of developing kidney stones. This is the first time that these medicines have been linked to this condition. The strongest risks appeared at younger ages and among patients most recently exposed to antibiotics.

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A review of nearly 500 cases of infants with severe congenital hyperinsulinism who underwent partial or near-total removal of their pancreas for persistent hypoglycemia at Children’s Hospital of Philadelphia (CHOP) showed that surgeons can cure virtually all patients with the focal, or localized, form of the rare genetic disease.

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Over 150 experts from Children’s Hospital of Philadelphia (CHOP) will travel to Toronto for this year’s Pediatric Academic Societies (PAS) Meeting.

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The Sabin Vaccine Institute has awarded Paul Offit, MD, of Children’s Hospital of Philadelphia, the 2018 Albert B. Sabin Gold Medal. Sabin recognized Dr. Offit as co-inventor of an oral rotavirus vaccine and for his leadership as one of the United States’ most vocal and dedicated advocates for immunization.

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Researchers investigating a key signaling protein in Huntington’s disease describe deleterious effects on heart function, going beyond the disease’s devastating neurological impact. By adjusting protein levels affecting an important biological pathway, the researchers improved heart function in mice, shedding light on the biology of this fatal disease.

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The Emily Whitehead Foundation today presented a check totaling $250,000 to Stephan A. Grupp, MD, PhD, Director of the Cancer Immunotherapy Frontier Program, and Section Chief of the Cellular Therapy and Transplant Program at Children’s Hospital of Philadelphia (CHOP), benefitting cellular immunotherapy research at CHOP.

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Neurobiology researchers have identified a pathway in brain circuitry that, when stimulated, leads to “antidepressive” behavior in animals. If such brain stimulation proves to have similar effects in people, it may eventually lead to a novel treatment for depression.

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Experts in pediatric kidney disease have published a new staging system to help doctors better predict the length of time until a child with chronic kidney disease will need to undergo a kidney transplant or start receiving dialysis. Although this type of prognostic guide exists for adults, this is the first such tool specific to children.

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A systematic study of seven antioxidants commonly taken by or suggested to benefit children and adults affected with mitochondrial disease provides intriguing clues that at least two compounds should be further evaluated in clinical trials. There are currently no proven, effective treatments for mitochondrial disease.

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Neurology researchers investigating a rare but devastating neurological regression in infants have discovered the cause: gene mutations that severely disrupt crucial functions in mitochondria, the energy-producing structures within cells. The specific disease mechanism has not previously been implicated in a human disease.

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Researchers have discovered a “missing mutation” in severe infant epilepsy—long-suspected genetic changes that might trigger overactive, brain-damaging electrical signaling leading to seizures. They also found early indications that specific anti-seizure medications might prevent disabling brain injury.

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Physician-researchers from the Cardiac Center at Children’s Hospital of Philadelphia (CHOP) presented new findings on pediatric cardiovascular disease at the American College of Cardiology’s 67th Annual Scientific Session & Expo 2018 in Orlando, Fla. Among many abstracts presented were emergency department visits in patients with congenital heart disease, social risk factors for readmission, factors predicting mortality after prolonged critical illness and more.

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Infants who consumed soy-based formula as newborns had differences in some reproductive-system cells and tissues, compared to those who used cow-milk formula or were breastfed, according to a new study. The differences were subtle and not a cause for alarm, but reflect a need to further investigate the long-term effects of exposure to estrogen-like compounds found in soy-based formulas.

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Children with mitochondrial diseases who suffered acute metabolic strokes benefited from rapid intravenous treatment with the amino acid arginine, experiencing no side effects from the treatment. In half of the stroke episodes, patients showed clinical improvements in symptoms such as seizures and partial paralysis.

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Aseem R. Shukla, MD, a pediatric urologist at Children’s Hospital of Philadelphia, along with several of his colleagues from around the world, have created an innovative program to help address urological needs in India. The team is specifically addressing bladder exstrophy, a complex, rare disorder that occurs during fetal development when the bladder does not form completely and drains onto the surface of the abdomen.

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Newly identified stem cells in the lung that multiply rapidly after a pulmonary injury may offer an opportunity for innovative future treatments that harness the body’s ability to regenerate. Scientists describe cells that could become a new tool to treat lung diseases across the lifespan, from premature infants to the elderly.

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Researchers studying a rare genetic disorder that causes severe, progressive neurological problems in childhood have discovered insights into biological mechanisms that drive the disease, along with early clues that an amino acid supplement might offer a targeted therapy.

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Children who have heart surgery as infants are at risk for hearing loss, coupled with associated risks for language, attention and cognitive problems, by age four. In a single-center group of 348 preschoolers who survived cardiac surgery, researchers found hearing loss in about 21 percent, a rate 20 times higher than is found in the general population.

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Updated results from a global clinical trial of the CAR T-cell therapy, tisagenlecleucel, a landmark personalized treatment for a high-risk form of acute lymphoblastic leukemia (ALL), reveal that children and young adults continued to show high rates of durable, complete remission of their disease. Most side effects were short-lived and reversible.

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A study of 30,000 children with earaches, strep throat and other common infections found that narrow-spectrum antibiotics had fewer adverse effects than broad-spectrum antibiotics. A more selective approach is better, said researchers.

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Defects in mitochondria, the tiny structures that power our cells by functioning as biological batteries, cause an array of complex, often life-threatening disorders that can affect any and all organs and systems. In the absence of validated, effective drug treatments, patients with mitochondrial disease often take a variety of vitamins and supplements, substances that are largely unstandardized, unregulated, and unproven. A group of medical experts recommend performing systematic scientific studies to test precise nutritional interventions for patients.

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A team of gene therapy researchers has reported positive results in a phase 1/2 clinical trial for the inherited bleeding disorder hemophilia B. A single intravenous infusion of a novel bioengineered gene therapy treatment enabled adult participants to safely produce sustained levels of clotting factor that prevented debilitating bleeding episodes. Patients were able to terminate prophylactic treatments--the gene therapy nearly universally eliminated their need for intravenous infusions of manufactured clotting factor.

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The first child to undergo a successful hand transplant also is the first child in whom scientists have detected massive changes in how sensations from the hands are represented in the brain. The brain reorganization is thought to have begun six years before the transplant, when the child had both hands amputated because of a severe infection during infancy. Notably, after he received transplanted hands, the patient’s brain reverted toward a more typical pattern.

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Physician-researchers from the Cardiac Center at Children’s Hospital of Philadelphia recently presented new findings on pediatric cardiovascular disease at the American Heart Association’s Scientific Sessions 2017 in Anaheim, Calif. Among many abstracts presented were research on racial disparities in bystander CPR methods in children with sudden cardiac arrest, and findings that children with hypertrophic cardiomyopathy may be at risk for sudden cardiac death.

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People whose genetic makeup triggers a later-than-average start to puberty have lower bone mineral density, especially in their lower spine. Because adolescence is a critical period for accruing bone, this effect may increase a person’s risk of osteoporosis and bone fractures later in life.

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Infants with various forms of congenital heart disease require a stable source of blood flow to their lungs in order to survive until a more definitive operation can be performed. In a recent study, pediatric researchers compared two methods to provide that flow: a shunt to reroute blood and an implanted stent to maintain an open path for blood flow. They found that stents were preferable for selected patients.

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Using smartphone cameras, parents can reliably take high-quality photographs of their child’s skin condition to send to a dermatologist for diagnosis. This finding suggests that direct-to-patient dermatology can accurately provide pediatric dermatology care.

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Mindfulness may offer an active coping mechanism for mothers faced with the stress of having a newborn diagnosed with congenital heart disease (CHD). Mindfulness, which aims to increase a person’s awareness and acceptance of daily experiences, is currently used in a variety of healthcare settings as a potentially effective skill for stress reduction, emotion, affect and attention regulation.

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For a variety of reasons, medications and devices specifically developed for children have traditionally lagged behind similar products for adults. A new federally funded program intends to address these unmet medical needs by improving quality and efficiency in developing innovative pediatric medicines and devices. The program is launching a new global clinical trials network to strengthen the development of innovative pediatric treatments and devices.

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Physicians who see patients with mitochondrial disease now have a practical new tool—the first set of published guidelines for managing and caring for those patients. Occurring in at least one in 4,500 individuals, mitochondrial disease is caused by defects in genes affecting the function of mitochondria, crucial energy-producing structures found in every cell. This complex disease can affect nearly every organ or system in the body.