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Researchers found mutations in a master-switch protein called Epithelial Splicing Regulatory Protein 1 in individuals with a type of congenital hearing loss. In general, what connects most of the unexplained hearing-loss cases is that protein building in the cochlea during development goes awry. The cochlea has the all-important job of transforming mechanical energy in the form of sound waves into electrical signals that run along auditory nerves to the brain.

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Congenital heart valve defects are the most common type of birth defect, the majority of which have no clear genetic cause, suggesting that epigenetic factors play an important role. Now, researchers have found that the shear force of blood flow against the cells lining the early heart valve sends signals for heart “cushion” cells to become fully formed valves.

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Screening for tumor cells in the fallopian tubes of women at high-risk for ovarian cancer may help detect the cancer years before it develops further, suggests a new study co-led by researchers at Penn Medicine and published online this week in Nature Communications. The new study traces the origins of high-grade serous ovarian carcinoma (HGSOC), the most frequent type of ovarian cancer that is often diagnosed at advanced stages, back to fallopian tube lesions known as ‘p53 signatures’ and serous tubal intraepithelial carcinomas (STICs) that harbor the TP53 gene mutations.

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James C. Gee, PhD, director of the Penn Image Computing and Science Laboratory in the Department of Radiology at the Perelman School of Medicine at the University of Pennsylvania, has received two grants totaling $3.9 million from the National Institutes of Health to help develop a first-ever three-dimensional, cellular-resolution digital atlas of brain cell types in collaboration with national colleagues from the Allen Institute for Brain Science, Broad Institute of MIT and Harvard, and University of California, San Diego.

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Researchers found that in B cell tumors, mutated overactive versions of the Notch protein directly drive the expression of the Myc gene and many other genes that participate in B cell signaling pathways. Myc is a critical gene in governing cell proliferation and survival.

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Penn Medicine study illuminates how seniors cope with Alzheimer’s-risk biomarker results

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A new study shows that using small financial incentives and accessible monitoring tools such as wireless glucometers and apps may motivate young people to engage in playing a more active role in the management of their condition. The results show that participants in the intervention group, where a $60 monthly credit was on the line, were nearly three times more likely to achieve daily glucose monitoring goals. The authors say the study, published today in JAMA Pediatrics, shows that the strategy may be an effective way to reach a population that has historically been considered difficult to engage.

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Pediatric patients with head and neck cancer can be treated with proton beam therapy (PBT) instead of traditional photon radiation, and it will result in similar outcomes with less impact on quality of life.

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A new study published online this week in the American Journal of Human Genetics from Penn researchers uncovers the mechanisms of the genetic mutations, or variants, associated with the TMEM106B gene.

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A new animal study shows how insulin controls the movement and storage of fat molecules in the liver and how a breakdown in this system could lead to non-alcoholic fatty liver disease and changes in circulating lipid levels associated with cardiovascular disease.

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Imagine trying to take a picture of a runner, but only being able to see her feet. If you could see her whole body, you’d get the full picture of how she uses both legs to put one foot in front of the other to reach top speed. That’s the idea behind a cancer imaging project in the Perelman School of Medicine at the University of Pennsylvania, and the researchers just received $1.4 million in funding from the National Institutes of Health (NIH) as part of the Cancer Moonshot to help the effort along.

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Penn Medicine hospitals in Philadelphia recently made substantial updates to its electronic health records – the first update in 10 years – asking for additional patient demographic information. This includes additional race/ethnicity information, as well as gender identity, and relationship status, among other information. The aim is to improve care, and although we are leaders locally in this area, it follows a trend nationally as more and more health systems find ways to follow national Healthy People 20/20 recommendations as well as the Institute of Medicine (National Academy of Medicine) National Academies report on what to collect on patients’ background and characteristics.

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Researchers at the Perelman School of Medicine at the University of Pennsylvania will receive $6.4 million in funding from the National Institute of Mental Health (NIMH) to create a new center to improve mental health service delivery through behavioral economics and implementation science.

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A new study suggests that the ability of a stem cell to differentiate into cardiac muscle (and by extension other cell types) depends on what portions of the genome are available for activation, which is controlled by the location of DNA in a cell’s nucleus.

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Finding new clues about the molecular origins of disease is the goal for a comprehensive atlas of variation in gene expression.

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A new mouse study found that, even in immunized animals, noroviruses can escape the immune system and still spread by hiding out in an extremely rare type of cell in the gut.

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African American women were found to be twice as likely to be diagnosed with peripartum cardiomyopathy as compared to women of Caucasian, Hispanic/Latina, Asian, and other ethnic backgrounds, according to a new study—the largest of its kind—published today in JAMA Cardiology by researchers from the Perelman school of Medicine at the University of Pennsylvania.

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Surgeons at Penn Medicine are using a fluorescent dye that makes cancerous cells glow in hopes of identifying suspicious lymph nodes during head and neck cancer procedures. Led by Jason G. Newman, MD, FACS, an associate professor of Otorhinolaryngology in the Perelman School of Medicine at the University of Pennsylvania, the study is the first in the world to look at the effectiveness of intraoperative molecular imaging (IMI) of lymph nodes in patients with head and neck cancer.

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The latest science in why pain afflicts people differently, precision medicine and brain disorders, and how the bat genome informs the study of human aging, among many other topics, will be covered.

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Hao Wu, PhD, an assistant professor of Genetics in the Perelman School of Medicine at the University of Pennsylvania has received a New Innovator Award from the National Institutes of Health (NIH). These awards provide each recipient $1.5 million over five years to pursue high-risk, high-reward investigations that could have implications for human health.

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About 850 people worldwide have been diagnosed with FOP in the last five decades. Contrast that to the fewer than 100 individuals with POH who have been identified around the world. POH is usually first noticed in babies with the appearance of small “rice-grain” particles of bone under the skin. The bone continues to grow deeper in the first layer of fat next to skin cells and progresses deeper into connective tissue such as skeletal muscle and joints.

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A new generation DNA-based Zika vaccine is the first to demonstrate both safety and the ability to elicit an immune response against Zika in humans, according to new research from the Perelman School of Medicine at the University of Pennsylvania, conducted in partnership with The Wistar Institute, Inovio Pharmaceuticals, and GeneOne Life Science, Inc. In results published today in the New England Journal of Medicine, the phase 1 clinical trial showed for the first time that humans who received up to three doses of the vaccine candidate produced an immune response against Zika with minimal adverse effects, opening the door to further clinical trials for this important vaccine candidate.

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Ride-hailing services reduce drunk-driving crashes in some cities, reports a new study from researchers at the Perelman School of Medicine at the University of Pennsylvania this month in the American Journal of Epidemiology. The research is the first to look at the specific effects of ride-hailing, or “ride-sharing,” within specific cities, rather than averaging data across multiple cities.

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Stress – defined broadly – can have a profoundly deleterious effect on the human body. Even individual cells have their own way of dealing with environmental strains such as ultraviolet radiation from the sun or germs. One response to stress – called senescence – can trigger cells to stop dividing in cases of cancer and aging, and new research may hold promise for treating inflammation-related disorders.

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New research shows families who used activity trackers with specially designed gaming elements increased daily step counts by nearly one mile per day and achieved daily fitness goals 27 percent more than families who did not.

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A research team at the University of Pennsylvania will receive $8.6 million in funding to study the effectiveness of home-based phototherapy treatments for psoriasis compared to treatments that require a visit to a doctor’s office three times a week.

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A new study shows white children in America are more likely to see a doctor for treatment of eczema than black children, despite the fact that the disease is likely more severe among minorities.

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A chemical tag added to RNA during embryonic development regulates how the early brain grows. When this development goes awry, problems happen and may cause psychiatric disorders in people.

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A pilot program that uses big data to predict which lung cancer patients will require a trip to an emergency department (ED) successfully anticipated a third of all ED visits over a two week trial period, and was further able to identify which patients were at high risk and low risk of requiring such care. The predictive model was designed by researchers at the Perelman School of Medicine at the University of Pennsylvania with the eventual goal of developing a tool for early intervention that will help patients avoid ED visits.

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Use of activity trackers, such as wearable devices and smartphone apps, is on the rise, and a new study shows that 80 percent of users stuck with the device for at least six months. Though the gadgets may help motivate users to increase exercise, the populations that could benefit most may not be using the technologies. In the first national study of a large, diverse population, researchers at the Perelman School of Medicine at the University of Pennsylvania and colleagues, found that 1.2 percent of the study population engaged with devices, and that most of the individuals who started using an activity tracker were younger and had higher-incomes than people who opted not to use the devices.

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Doctors at Penn Medicine have become the first in the world to treat a patient with a new treatment platform designed to streamline the way therapeutic radiation is delivered to cancer patients.

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Opening up a new pathway to fight cancer, researchers at the University of Pennsylvania have found a way to target an enzyme that is crucial to tumor growth while also blocking the mechanism that has made past attempts to target that enzyme resistant to treatment. Researchers were able to use this finding to develop a drug that successfully inhibits tumor growth of melanoma as well as pancreatic and colorectal cancer in mice.

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Sleep deprivation – typically administered in controlled, inpatient settings – rapidly reduces symptoms of depression in roughly half of depression patients, according the first meta-analysis on the subject in nearly 30 years, from researchers at the Perelman School of Medicine at the University of Pennsylvania.

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Today in Philadelphia, Penn Medicine has deepened its commitment to the American Heart Association by announcing a three-year pledge as the market’s first ever Life is Why sponsor. The American Heart Association and Penn Medicine are dedicated to creating a culture of health in Philadelphia by providing local and regional communities with education and resources that advance health and wellness.

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The pending termination of DACA may reverse these mental health benefits for the 800,000 DACA beneficiaries, and trigger a public health crisis, according to an essay in the New England Journal of Medicine, co-authored by Atheendar. S. Venkataramani, MD, PhD, an assistant professor of medical ethics and health policy at Perelman School of Medicine at the University of Pennsylvania.

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Prior to cell division, chromosomes are seemingly a jumbled mess. Researchers have long assumed that genes become “silent” during cell division, not being transcribed into proteins or regulatory molecules. This has left open the question of how genes get properly re-activated after cell division. Now, researchers have found that gene expression actually continues during cell replication.

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Ben Z. Stanger, MD, PhD, an associate professor of Gastroenterology, has been appointed director of the Penn Pancreatic Cancer Research Center, which includes a multidisciplinary team of pancreatic cancer experts who care for patients and conduct research on the causes and possible prevention and cure of the disease.

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A chemically modified version of the common blood thinner heparin may be the first promising method of preventing the harmful cascade of destruction to brain tissue that commonly follows traumatic brain injury (TBI), according to new research findings. Though there is currently no drug therapy to prevent the repercussions that can occur in the days and weeks after TBI, researchers at the Perelman School of Medicine at the University of Pennsylvania showed that mice treated with a modified version of heparin with very low coagulant activity (known as 2-O, 3-O desulfated heparin, ODSH or CX-01) had less brain swelling and inflammation, and less evidence of brain damage, compared to mice that received saline.

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Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania have joined together as a single site within the Urinary Stone Disease Research Network (USDRN), which was launched by the National Institute of Diabetes and Digestive and Kidney Diseases of the NIH. In total, five sites will collaborate in this nationwide network as it launches a randomized clinical trial, the Prevention of Urinary Stones with Hydration (PUSH) study.

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Frontotemporal degeneration (FTD) is a progressive neurodegenerative condition that is present in tens of thousands of Americans, but is often difficult to diagnose accurately. Now in a study published this week online ahead of print in Neurology, researchers from the Perelman School of Medicine at the University of Pennsylvania have found evidence that a simple eye exam and retinal imaging test may help improve that accuracy.

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M. Celeste Simon, PhD, who studies cancer cell metabolism, tumor immunology, and the influence of oxygen availability and deprivation on tumor growth, has been given a National Cancer Institute Outstanding Investigator Award.

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Sweet taste receptor, known as T1R, can be activated by certain amino acids secreted by bacteria. Researchers took cells from rhinosinusitis patients and isolated the various communities of bacteria that were present. They found cultures of Staphylococcus bacteria produced two D-amino acids called D-Phe and D-Leu, both of which activate T1R sweet receptors and block the release of antimicrobial peptides.

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Details of lung cell molecular pathways that promote or inhibit tissue regeneration were reported by Penn researchers. Their aim is to find new ways to treat lung disorders.

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Each cell in the average human body contains 23 pairs of chromosomes, with four telomeres on each pair. Telomeres cover the end of the chromosome, protecting it from deterioration or fusion with adjacent chromosomes. While there is a length range for classifying a healthy telomere, researchers found, for the first time ever, that people with heart failure have shorter telomeres within the cells that make up the heart muscle (known as cardiomyocytes). A team of researchers from Penn Medicine, in collaboration with the University of Connecticut, published their findings today in the Journal of the American Heart Association, building on a methods paper which was published recently in Nature Protocols.

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Researchers from the Perelman School of Medicine at the University of Pennsylvania have made a discovery about muscular dystrophy disorders that suggest new possibilities for treatment. In a study published today online in Stem Cell Reports, researchers found that stem cells in the muscles of muscular dystrophy patients may, at an early age, lose their ability to regenerate new muscle, due to shortened telomeres

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Again and again, it’s the rare among humans that help the rest of us. The exploration of human genetics is revealing new targets to combat heart disease among atypical variants. Mutations in genes that play a role in heart health are the inspiration for a cluster of new heart drugs.

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Penn-CHOP Researchers Found that Students Who Took a Course in Art Observation Significantly Improved Clinical Observation and Professional Development Skills

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Patients with the most common type of liver cancer who are taking the chemotherapy drug sorafenib can begin their treatment with a lower dose than is currently considered standard, and it will not affect how long they live when compared to patients who start on the full dose.