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Children’s Hospital of Philadelphia celebrates a pivotal moment in medicine: approval by the European Commission of LUXTURNA® (voretigene neparvovec), the first and only gene therapy for patients with an inherited retinal disease, last month. This also makes LUXTURNA the first gene therapy for a genetic disease that has received regulatory approval in both the U.S. and European Union.

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Physician-scientists from Children’s Hospital of Philadelphia presented updated efficacy and safety data on Kymriah (tisagenlecleucel) --the first-ever FDA-approved personalized CAR T-cell gene immunotherapy for aggressive blood cancers, at the American Society of Hematology annual meeting, as well as first-of-its-kind research on overcoming CAR T-cell resistance.

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Decades after two brothers died in childhood from a mitochondrial disease, scientists pinpointed the genetic cause as a founder mutation in an Ashkenazi Jewish ancestor. The discoverers say the causative gene should be included in prenatal genetic carrier screening tests.

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As computational biologist Yi Xing, PhD, launches the Center for Computational and Genomic Medicine at Children’s Hospital of Philadelphia, he draws on his “bilingual” strengths. In this case, bilingual refers to his fluency in two scientific disciplines: computational biology and experimental biology.

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An Oct. 31 event at Children’s Hospital of Philadelphia highlights the Philadelphia's role in manufacturing 21st century products: tools for precision medicine. The hospital's new Clinical Manufacturing Facility will produce clinical-grade vectors to deliver cellular and gene therapy for difficult-to-treat diseases.

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A large international research team has discovered a new genetic cause for a severe, difficult-to-treat childhood epilepsy syndrome. Spontaneous mutations in one gene disrupt the flow of calcium in brain cells, resulting in epileptic overactivity.

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A new study reveals that children with developmental delays, including autism spectrum disorder (ASD), are up to 50 percent more likely to be overweight or obese compared with the general population.

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Scientists who performed the largest-ever genetic study of a puzzling type of adult-onset diabetes have uncovered new connections to the two major types of diabetes, offering intriguing insights into more accurate diagnosis and better treatment.

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Pediatric researchers have discovered common gene variants associated with migraines in African-American children. The research adds to knowledge of genetic influences on childhood migraine and may lead to future precision medicine treatments for African-American children with these intense headaches.

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Pediatric researchers studying the life-threatening blood disorder Fanconi anemia have devised a method to block the abnormal biological signals that drive the disease. This proof-of-concept finding in animals and stem cells may lay the foundation for better treatments for children with the rare, frequently fatal disease.

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A team of clinicians, dietitians and researchers has created an automated program to screen for malnutrition in hospitalized children, providing daily alerts to healthcare providers so they can quickly intervene with appropriate treatment. The malnutrition screen draws on existing patient data in electronic health records (EHR).

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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.