http://www.pennmedicine.org/news The latest news about genetics and gene therapy from Penn Medicine - the University of Pennsylvania School of Medicine and Health System. en-us http://blogs.law.harvard.edu/tech/rss rachel.ewing@uphs.upenn.edu (Rachel Ewing) 2011, The Trustees of the University of Pennsylvania http://www.pennmedicine.org/images/pennmedicine_logo.jpg http://www.pennmedicine.org/news A team of researchers from the Perelman School of Medicine, University of Pennsylvania, has identified a class of p53 target genes and regulatory molecules that represent more promising therapeutic candidates. http://www.uphs.upenn.edu/news/News_Releases/2013/01/yang/ Mon, 14 Jan 2013 15:00:00 GMT Now, the laboratory of Lewis A. Chodosh, MD, PhD, chair of the Department of Cancer Biology at the Perelman School of Medicine, University of Pennsylvania, reports in Genes & Development that activation of the PI3K-Akt oncogenic signaling pathway in the mammary glands of mice rapidly induces cells in the breast itself to produce prolactin. This, in turn, triggers Stat5 activation, mammary epithelial differentiation and milk production in virgin mice within a matter of hours. http://www.uphs.upenn.edu/news/News_Releases/2012/10/chodosh/ Mon, 01 Oct 2012 15:00:00 GMT We often hear that "knowledge is power." But, that isn't always the case, especially when the knowledge pertains to the health of an unborn child, with murky implications, at best. A new study, led by researchers from the Perelman School of Medicine at the University of Pennsylvania, begins to document this exception to the general rule. http://www.uphs.upenn.edu/news/News_Releases/2012/09/chromosome/ Thur, 20 Sep 2012 20:00:00 GMT Researchers have long recognized that autism runs in families, suggesting a genetic component. http://www.uphs.upenn.edu/news/News_Releases/2012/04/dna/ Thur, 5 Apr 2012 13:00:00 GMT Inspired by earlier successes using gene therapy to correct an inherited type of blindness, investigators from the Perelman School of Medicine at the University of Pennsylvania, are poised to extend their approach to other types of blinding disorders. http://www.uphs.upenn.edu/news/News_Releases/2011/06/gene-therapy/ Wed, 22 June 2011 18:00:00 GMT There are new genetic clues on risk factors and biological causes of a rare neurodegenerative disease called progressive supranuclear palsy (PSP), according to a new study from an international genetics team led by researchers from the Perelman School of Medicine at the University of Pennsylvania. http://www.uphs.upenn.edu/news/News_Releases/2011/06/brain-disease/ Sun, 19 June 2011 18:00:00 GMT An international analysis of 14 genome-wide association studies involving over 100,000 patients has identified 13 new genetic risk factors for coronary artery disease (CAD). Muredach P. Reilly, MBBCH, MSCE, associate professor of Medicine, University of Pennsylvania School of Medicine, and colleagues played a central organizing role in the international consortium, CARDIoGRAM (Coronary Artery Disease Genome-wide Replication and Meta-analysis), that combined and analyzed data from all currently published genome-wide association studies (GWAS) on heart attack and CAD, as well as some unpublished data. http://www.uphs.upenn.edu/news/News_Releases/2011/03/heart-disease-genetic-components/ Tue, 08 Mar 2011 16:30:00 GMT Nearly five million Americans live with heart failure, with as many as 700,000 new cases diagnosed each year. In addition to lifestyle factors, scientists have shown that heart failure has a strong heritable component, but identifying the responsible genes has been a major challenge. Now, new research has identified a common genetic risk factor for heart failure in Caucasians. The study, a collaboration between the University of Pennsylvania School of Medicine, Washington University School of Medicine, and other institutions, was published this week in The Proceedings of the National Academy of Sciences. http://www.uphs.upenn.edu/news/News_Releases/2011/01/heart-failure-gene/ Tue, 18 Jan 2011 16:30:00 GMT A new study from researchers at the University of Pennsylvania School of Medicine shows that certain genetic profiles increase risk of coronary artery disease (CAD) while others uniquely increase risk of heart attacks in those with CAD. The findings, published online first today and in an upcoming edition of The Lancet, are the results of the analysis of two genome-wide association studies (GWAS) -- an examination of all or most of the genes (the genome) of different individuals to identify common genetic factors that influence disease. http://www.uphs.upenn.edu/news/News_Releases/2011/01/heart-attack-genetic-risk/ Fri, 14 Jan 2011 23:30:00 GMT An international team of researchers led by Daniel J. Rader, MD, associate director of Penn Medicine's Institute for Translational Medicine and Therapeutics, has received a $6 million grant from the Paris-based Fondation Leducq to study the molecular genetics of atherosclerotic cardiovascular disease. http://www.uphs.upenn.edu/news/News_Releases/2011/01/heart-disease-genetics-grant/ Mon, 03 Jan 2011 16:30:00 GMT By comparing two species of ants, Shelley Berger, PhD, the Daniel S. Och University Professor at the University of Pennsylvania, and colleagues Danny Reinberg, PhD, New York University, and Juergen Liebig, PhD, Arizona State University, have established an important new avenue of research for epigenetics -- the study of how the expression or suppression of particular genes affects an organism's characteristics, development, and even behavior.  http://www.uphs.upenn.edu/news/News_Releases/2010/08/ant-epigenetics/ Thu, 26 Aug 2010 19:00:00 GMT An international study led by biologists and neuroscientists from the University of Pennsylvania has identified a new genetic risk factor for amyotrophic lateral sclerosis, commonly known as ALS or Lou Gehrig's disease. http://www.uphs.upenn.edu/news/News_Releases/2010/08/als-genetic-risk-factor/ Wed, 25 Aug 2010 18:00:00 GMT Researchers have shown that a gene linked to a disease trait by genome wide association studies (GWAS) can be clinically relevant and an important determinant of disease risk. In a study published this week in Nature, a team of investigators describes how a region on chromosome 1 previously found by GWAS to be associated with both low-density lipoprotein cholesterol (LDL-C, the "bad" cholesterol) and myocardial infarction (MI) regulates LDL-C levels.  http://www.uphs.upenn.edu/news/News_Releases/2010/08/cholesterol-heart-disease-gene/ Wed, 04 Aug 2010 18:00:00 GMT Gerard Schellenberg, PhD, professor of Pathology and Laboratory Medicine at the University of Pennsylvania School of Medicine, is among the genetic experts involved in a study revealing new genetic targets in Autism Spectrum Disorders (ASD), which may broaden targets available for potential genetic testing or therapeutic intervention. The study, published in Nature, provides strong support for the involvement of multiple rare genetic variants, both genome-wide and at specific loci, in ASD. http://www.uphs.upenn.edu/news/News_Releases/2010/06/autism-genetic-targets/ Wed, 09 Jun 2010 19:00:00 GMT Although congenital heart disease represents the most common major birth defect, scientists have not previously identified common genetic variants that give rise to it. Now genetics and cardiac researchers, two of them brothers, have discovered a genetic variant on chromosome 5 that strongly raises the risk of congenital heart disease. http://www.uphs.upenn.edu/news/News_Releases/2010/06/common-gene-congenital-heart-disease/ Wed, 02 Jun 2010 17:00:00 GMT Using high-throughput sequencing to map the locations of a common type of jumping gene within a person’s entire genome, researchers at the University of Pennsylvania School of Medicine found extensive variation in these locations among the individuals they studied, further underscoring the role of these errant genes in maintaining genetic diversity. http://www.uphs.upenn.edu/news/News_Releases/2010/06/jumping-genes-evolution/ Tue, 01 Jun 2010 19:30:00 GMT Gene therapy for a severe inherited blindness, which produced dramatic improvements last year in 12 children and young adults who received the treatment in a clinical trial, has cleared another hurdle. The same research team that conducted the human trial now reports that a study in animals has shown that a second injection of genes into the opposite, previously untreated eye is safe and effective, with no signs of interference from unwanted immune reactions following the earlier injection. http://www.uphs.upenn.edu/news/News_Releases/2010/03/gene-therapy-safety-in-two-eyes/ Wed, 03 Mar 2010 16:00:00 GMT Researchers from the University of Pennsylvania School of Medicine presented today the results from an ongoing Phase I/II open-label clinical trial of Lexgenleucel-T at the 16th Conference on Retroviruses and Opportunistic Infections (CROI) in San Francisco, CA. Lexgenleucel-T is a cell and gene therapy product being investigated for the treatment of HIV infection. http://www.uphs.upenn.edu/news/News_Releases/2010/02/hiv-gene-therapy/ Thu, 18 Feb 2010 23:59:59 GMT The upcoming issue of TIME magazine includes research from a team of Penn Medicine and CHOP autism genetics experts among it’s Top Ten Medical Breakthroughs of 2009. The team first reported that multiple gene variants, both common and rare, may raise the risk of autism spectrum disorders (ASDs) in the journal Nature in April. The first study suggested that a particular genetic variation, found on a cluster between CDH10 and CDH9 on chromosome 5, is found in about 15 percent of children with autism, according to co-senior author Gerard Schellenberg, PhD, professor of pathology and laboratory medicine at the University of Pennsylvania School of Medicine. The second study identified missing or duplicated stretches of DNA along two crucial gene pathways. Both studies detected genes implicated in the development of brain circuitry in early childhood. http://www.uphs.upenn.edu/news/News_Releases/2009/12/autism-genetics-top-breakthrough/ Thu, 10 Dec 2009 19:30:00 GMT After a single injection of genes that produce light-sensitive pigments in the back of his eye, a nine-year-old boy born with a retinal disease that made him legally blind, and would eventually leave him totally sightless, now participates in class without extra help. In the playground, he joins his classmates in playing his first game of softball. His treatment represents the next step toward medical science’s goal of using gene therapy to cure disease. Extending a preliminary study published last year on three young adults, the full study reports successful, sustained results that showed notable improvement in children with congenital blindness. http://www.uphs.upenn.edu/news/News_Releases/2009/10/gene-therapy-restores-sight/ Sat, 24 Oct 2009 19:00:00 GMT The presence of a gene can predict when a traumatic brain injury (TBI) will lead to early symptoms of Alzheimer’s disease, according to a new study from neuroscientists at the University of Pennsylvania School of Medicine. Amyloid plaque deposits, known primarily for their role in Alzheimer’s disease, are found in nearly one third of people who die from acute TBI, within just hours of a brain injury and in people of all ages. This build up of Alzheimer’s-like deposits can be predicted by a variation in the gene that codes for the amyloid-busting enzyme, neprilsyin. http://www.uphs.upenn.edu/news/News_Releases/brain-injury-alzheimers-genetic-risk/ Thu, 22 Oct 2009 20:00:00 GMT University of Pennsylvania geneticist Sarah A. Tishkoff, PhD is among 18 recipients of the 2009 National Institutes of Health’s Pioneer Award. Tishkoff, the David and Lyn Silfen University Associate Professor and a Penn Integrates Knowledge Professor, is a leading global expert in human genetics. The Pioneer Award provides $500,000 in funding each year for five years, totaling $2.5 million in support of a small number of investigators of exceptional creativity who propose bold and highly innovative new research approaches that have the potential to produce a major impact on broad, important problems in biomedical and behavioral research. http://www.uphs.upenn.edu/news/News_Releases/2009/09/tishkoff-pioneer-award/ Fri, 25 Sep 2009 16:30:00 GMT One year after a trio of young adults received gene therapy for an inherited form of blindness, researchers have documented that the patients are still experiencing the same level of remarkable vision improvements previously measured within weeks. This is the first study to report one-year gene therapy safety and efficacy results in treating young adults with Leber Congenital Amaurosis (LCA), a hereditary condition that causes severe vision impairment in infants and children. The findings are published in Human Gene Therapy, now online, and in the New England Journal of Medicine (NEJM) this week. http://www.uphs.upenn.edu/news/News_Releases/2009/08/gene-therapy-vision-improvement-maintained/ Wed, 12 Aug 2009 22:00:00 GMT More pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from the University of Pennsylvania School of Medicine, The Children’s Hospital of Philadelphia (CHOP), and several collaborating institutions. This study identified 27 different genetic regions where rare copy number variations – missing or extra copies of DNA segments – were found in the genes of children with autism spectrum disorders (ASDs), but not in the healthy controls. The complex combination of missing or extra copies of certain genes is thought to interfere with gene function, which can disrupt the production of proteins necessary for normal neurological development. http://www.uphs.upenn.edu/news/News_Releases/2009/06/autism-gene-mutations/ Fri, 26 Jun 2009 15:00:00 GMT Jumping genes do most of their jumping, not during the development of sperm and egg cells, but during the development of the embryo itself. The research, published this month in Genes and Development, "challenges standard assumptions on the timing of when mobile DNA, so-called jumping genes, insert into the human genome," says senior author Haig H. Kazazian Jr., MD, Seymour Gray Professor of Molecular Medicine in Genetics at the University of Pennsylvania School of Medicine. http://www.uphs.upenn.edu/news/News_Releases/2009/06/jumping-genes-embryonic-development.html Wed, 17 Jun 2009 17:45:00 GMT African, American, and European researchers working in a 10-year collaboration have released the largest-ever study of African genetic data — more than 4 million genotypes — providing a library of new information on the continent which is thought to be the source of the oldest settlements of modern humans. "This is the largest study to date of African genetic diversity in the nuclear genome," said lead author Sarah Tishkoff, PhD, a geneticist with joint appointments in the School of Medicine and the School of Arts and Sciences. "This long term collaboration, involving an international team of researchers and years of research expeditions to collect samples from populations living in remote regions of Africa, has resulted in novel insights about levels and patterns of genetic diversity in Africa, a region that has been underrepresented in human genetic studies." A slide show of the team's fieldwork, with audio, is available at www.sas.upenn.edu/home/SASFrontiers/tishkoff.html. http://www.upenn.edu/pennnews/article.php?id=1628 Thu, 30 Apr 2009 21:15:00 GMT Researchers have made an important step forward in understanding the complex genetic structure of autism spectrum disorders. A researcher collaboration, including geneticists from the University of Pennsylvania School of Medicine and The Children’s Hospital of Philadelphia (CHOP), have detected variations along a genetic pathway that is responsible for neurological development, learning and memory, which appears to play a significant role in the genetic risk of autism. Their findings were published in the journal Nature. http://www.uphs.upenn.edu/news/News_Releases/2009/04/autism-genetics.html Tue, 28 Apr 2009 18:00:00 GMT In a finding that helps resolve a long-standing question in developmental biology, Klaus H. Kaestner, PhD, Professor of Genetics, and colleagues report in the journal Developmental Cell this week about how the mammalian gut forms. Mice were genetically engineered to lack the protein Cdx2 in the cells that normally go on to form the stomach and intestine. The mutant animals – which invariably die either before or just after birth – have an esophagus where these missing organs should be. http://www.uphs.upenn.edu/news/News_Releases/2009/04/gut-development-cdx2.html Mon, 20 Apr 2009 18:00:00 GMT For years, researchers have known that under normal conditions, the breast cancer protein BRCA1 orchestrates the repair of damaged DNA, but the details of just how BRCA1 moves to the damaged site and recruits the right nuclear repairmen for DNA restoration remains a mystery. Now, a new study from the University of Pennsylvania School of Medicine has identified genes associated with the BRCA1 protein and their involvement in the DNA repair pathway, helping to clear the way for researchers to better understand what goes wrong when the BRCA1 gene is mutated and the repair pathway goes haywire. Identifying patients with mutations in these BRCA1-associated genes may help better fight breast cancer. http://www.uphs.upenn.edu/news/News_Releases/2009/03/brca-associated-gene.html Tue, 17 Mar 2009 20:30:00 GMT A new study from the Abramson Cancer Center and Department of Psychiatry in the University of Pennsylvania School of Medicine shows that smokers who carry a particular version of a gene for an enzyme that regulates dopamine in the brain may suffer from concentration problems and other cognitive deficits when abstaining from nicotine – a problem that puts them at risk for relapse during attempts to quit smoking. The findings, newly published in the journal Molecular Psychiatry, pave the way to identify novel medications to treat nicotine addiction. http://www.uphs.upenn.edu/news/News_Releases/2008/12/genetic-nicotine-addiction.html Tue, 09 Dec 2008 20:00:00 GMT Haig H. Kazazian, Jr., M.D., Seymour Gray Professor of Molecular Medicine in Genetics at the University of Pennsylvania School of Medicine, received the American Society of Human Genetics’ (ASHG) Allan Award at the Society’s 58th Annual Meeting, which was held this month in Philadelphia. http://www.uphs.upenn.edu/news/News_Releases/2008/11/kazazian-ashg-allan-award.html A research team led by Mitchell Lazar, MD, PhD, Director of the Institute for Diabetes, Obesity, and Metabolism at the University of Pennsylvania School of Medicine, has used state-of-the-art genetic technology to map thousands of positions where a molecular 'master regulator' of fat-cell biology is nestled in DNA to control genes in these cells. The findings appear online this week in Genes and Development. http://www.uphs.upenn.edu/news/News_Releases/2008/11/ppar-gamma-gene-regulator.html Carl June, MD, Director of Translational Research at the Abramson Cancer Center of the University of Pennsylvania and Professor of Pathology and Laboratory Medicine in Penn’s School of Medicine, has received $1 million over the next three years from the Alliance for Cancer Gene Therapy, Inc. (ACGT) to harness the immune system to fight the worst cases of ovarian cancer. http://www.uphs.upenn.edu/news/News_Releases/2008/09/carl-june-cancer-gene-therapy.html In a clinical trial at The Children’s Hospital of Philadelphia, researchers from The University of Pennsylvania have used gene therapy to safely restore vision in three young adults with a rare form of congenital blindness. Although the patients have not achieved normal eyesight, the preliminary results set the stage for further studies of an innovative treatment for this and possibly other retinal diseases. http://www.uphs.upenn.edu/news/News_Releases/apr08/gene-therapy-vision.html Many women with a faulty breast cancer gene could be at greater risk of the disease due to extra risk-amplifying genes, according to research published this month in the American Journal of Human Genetics. http://www.uphs.upenn.edu/news/News_Releases/apr08/combination-breast-cancer-genes.html The Center of Excellence in Environmental Toxicology (CEET) at the University of Pennsylvania School of Medicine has been awarded $2.3 million over the next four years to study biological indicators of exposure to cigarette smoke. The grant is part of the National Institutes of Health new Genes, Environment, and Health Initiative (GEI). The GEI represents a unique collaboration between geneticists and environmental health scientists. In this first round of awards genetic studies were funded by the National Human Genome Research Institute and biomarker studies were funded by the National Institute of Environmental Health Sciences. http://www.uphs.upenn.edu/news/News_Releases/sep07/cigarette-smoke-grant.html Researchers at the University of Pennsylvania School of Medicine have found that a commonly prescribed diabetes drug kills tumor cells that lack a key regulatory gene called p53. Results from current studies in mice may result in new therapies for a subset of human cancers that tend to be aggressive and resistant to existing treatments. Additionally, the findings open up a new avenue for targeting cancers whose hallmark is the absence of this regulatory gene. The Penn team reported their findings last month in Cancer Research. http://www.uphs.upenn.edu/news/News_Releases/aug07/metformin-cancer-cells.html Researchers at the University of Pennsylvania School of Medicine have discovered a unique molecular pathway that detects and selectively eliminates defective messenger RNAs from red blood cells. Other such pathways -- known as surveillance pathways -- operate in a more general way, in many cell types. Knowing how this specific surveillance system works can help researchers better understand hereditary diseases, in this case, thalassemia, a form of anemia, which is the most common genetic disorder worldwide. The results appear in the most recent issue of Nature Structural and Molecular Biology. http://www.uphs.upenn.edu/news/News_Releases/aug07/red-blood-cell-pathway.html Researchers at the University of Pennsylvania School of Medicine identified a combination therapy as a way to sensitize resistant human cancer cells to a treatment currently being tested in clinical trials. They propose that the therapy may help to selectively eliminate cancer cells while leaving healthy cells intact, providing a cancer treatment with fewer side effects. The Penn team reports their findings in the July issue of Cancer Cell. http://www.uphs.upenn.edu/news/News_Releases/jul07/trail-combination-cancer-therapy.html Researchers at the University of Pennsylvania School of Medicine report how the gene for utrophin, which codes for a protein very similar to dystrophin, the defective protein in Duchenne muscular dystrophy (DMD), puts the brakes on its own expression in muscle cells, thereby suggesting a new target for treatment. The findings were published online in Molecular Biology Cell, in advance of print publication. http://www.uphs.upenn.edu/news/News_Releases/jul07/target-muscular-dystrophy.html While most RNAs work to create, package, and transfer proteins as determined by the cell's immediate needs, miniature pieces of RNA, called microRNAs (miRNAs) regulate gene expression. Recently, researchers from the University of Pennsylvania School of Medicine determined how miRNAs team up with a regulatory protein to halt protein production. Results of the study were published recently in Cell. http://www.uphs.upenn.edu/news/News_Releases/jul07/micro-RNA-protein-synthesis.html A growing number of drug-resistant strains of HIV are a threat to the effectiveness of current treatments despite anti-HIV drug cocktails decreasing the number of HIV-related deaths and improving the quality of life for HIV patients. Existing methods of detecting drug-resistant forms of HIV are expensive, time consuming, and often fail to identify small populations of drug-resistant HIV. Now, researchers at the University of Pennsylvania School of Medicine have developed a drug resistance screening method that analyzes multiple HIV variants at the same time, while also saving time and money. http://www.uphs.upenn.edu/news/News_Releases/jun07/HIV-screening.html Researchers at the University of Pennsylvania School of Medicine have identified proteins in the rod and cones of the eye that could lead to the discovery of the genetic causes of a host of inherited eye diseases. The investigators hope to gain a clearer understanding of what goes wrong at the most basic level in these diseases that cause blindness and other disorders. The study will appear in the August print issue of Molecular and Cellular Proteomics and has been pre-published online. http://www.uphs.upenn.edu/news/News_Releases/jun07/photoreceptor-cilia-proteins.html Many age-related neurological diseases are associated with defective proteins accumulating in nerve cells, suggesting that the cell's normal disposal mechanisms are not operating correctly. Now, researchers at the University of Pennsylvania School of Medicine have discovered a molecular link between the cell's two major pathways for breaking down proteins and have succeeded in using this link to rescue neurodegenerative diseases in a simple animal model. The study appears this week in Nature. http://www.uphs.upenn.edu/news/News_Releases/jun07/cell-protein-recycling.html Researchers at the Abramson Family Cancer Research Institute of the University of Pennsylvania have found that deleting a gene important in embryo development leads to premature aging and loss of stem cell reservoirs in adult mice. This gene, ATR, is essential for the body’s response to damaged DNA, and mutations in proteins in the DNA damage response underlie certain types of cancer and other disorders in humans. This work appears in the inaugural issue of Cell Stem Cell. http://www.uphs.upenn.edu/news/News_Releases/jun07/stem-cell-loss-aging.html Researchers at the Abramson Family Cancer Research Institute of the University of Pennsylvania and the Dana-Farber Cancer Institute describe in this week’s issue of Science a new candidate breast-cancer susceptibility gene. The Rap80 gene is required for the normal DNA-repair function of the well-known breast cancer gene BRCA1. http://www.uphs.upenn.edu/news/News_Releases/may07/Rap80-breast-cancer-gene.html The University of Pennsylvania School of Medicine, in association with Pennsylvania State University Medical College and Lincoln University, has received $4.2 million to study gene-environment interactions that increase the risk of lung cancer in African American and Caucasian smokers and non-smokers. The funds were awarded from Pennsylvania’s share of the national tobacco settlement for 2006-2007. http://www.uphs.upenn.edu/news/News_Releases/apr07/lung-cancer-grant.html Using a new type of drug that targets a specific genetic defect, researchers at the University of Pennsylvania School of Medicine, along with colleagues at PTC Therapeutics Inc. and the University of Massachusetts Medical School, have for the first time demonstrated restoration of muscle function in a mouse model of Duchenne's muscular dystrophy (DMD). The research appears ahead of print in an advanced online publication of Nature. http://www.uphs.upenn.edu/news/News_Releases/apr07/muscle-restoration-muscular-dystrophy.html It has been known for decades that heart attacks and strokes occur most frequently in the early-morning hours. Now, researchers at the University of Pennsylvania School of Medicine have provided the first evidence for the role of our body’s internal molecular clock in controlling blood pressure and a mechanism by which this occurs. Published online next week in the Proceedings of the National Academy of Sciences, this report points to the novel possibility of modifying blood pressure and the early-morning risk of heart attack. http://www.uphs.upenn.edu/news/News_Releases/feb07/internal-clock-blood-pressure.html In almost all forms of heart failure, the heart begins to express genes that are normally only expressed in the fetal heart. Researchers have known for years that this fetal-gene reactivation happens, yet not what regulates it. Now, investigators at the University of Pennsylvania School of Medicine have discovered that an enzyme important in fetal heart-cell development regulates the enlargement of heart cells, known as cardiac hypertrophy, which is a precursor to many forms of congestive heart failure (CHF). http://www.uphs.upenn.edu/news/News_Releases/feb07/fetal-heart-cell-enzyme.html Researchers at the University of Pennsylvania School of Medicine have pinpointed a key regulatory protein that translates blood flow into gene expression. The investigators showed that in a model of mouse embryonic development a transcription factor called Klf2, which resides in cells that line blood vessels, is activated by rapid, pulsed blood flow, as reported in the December issue of Developmental Cell. Understanding Klf2’s role in blood vessel and muscle biology could help with fighting atherosclerosis. http://www.uphs.upenn.edu/news/News_Releases/dec06/blood-flow-gene-expression.htm Researchers at the University of Pennsylvania School of Medicine have found by targeting the function of a single gene that it is possible to inhibit bone decay while simultaneously stimulating bone formation. This concept may lead to drug treatments for osteoporosis and other bone diseases. Senior author Yongwon Choi, PhD, professor of Pathology and Laboratory Medicine at the University of Pennsylvania and colleagues report their findings in the December issue of Nature Medicine. http://www.uphs.upenn.edu/news/News_Releases/dec06/bone-formation-decay-gene.htm Of the five senses, taste is one of the least understood, but now researchers at the University of Pennsylvania School of Medicine have come one step closer to understanding how the sense of taste develops. They have pinpointed a molecular pathway that regulates the development of taste buds. Using genetically engineered mice, they discovered that a signaling pathway activated by small proteins called Wnts is required for initiating taste-bud formation. They have also determined that Wnt proteins are required for hooking up the wiring of taste signals to the brain. http://www.uphs.upenn.edu/news/News_Releases/dec06/taste-bud-development.htm Researchers at the University of Pennsylvania School of Medicine have discovered how the Kaposi's sarcoma-associated herpesvirus (KSHV) subverts a normal cell process in order to promote tumor growth. The finding, published in the most recent issue of PLoS Pathogens, offers new potential strategies for treating Kaposi's sarcoma and other cancers associated with viruses. http://www.uphs.upenn.edu/news/News_Releases/nov06/KSHV.htm A protein with the ironic name 'Srcasm' can counteract the effects of tumor-promoting molecules in skin cells, according to new research by investigators at the University of Pennsylvania School of Medicine. Using animal models, the researchers discovered that Srcasm acts like a brake in epithelial cells, preventing uncontrolled cell growth caused by a family of proteins called Src kinases. This finding, published online in the Journal of Biological Chemistry, suggests a target for future gene therapy to treat skin, head, neck, colon, and breast cancers. http://www.uphs.upenn.edu/news/News_Releases/nov06/HIVgenether.htm A protein with the ironic name 'Srcasm' can counteract the effects of tumor-promoting molecules in skin cells, according to new research by investigators at the University of Pennsylvania School of Medicine. Using animal models, the researchers discovered that Srcasm acts like a brake in epithelial cells, preventing uncontrolled cell growth caused by a family of proteins called Src kinases. This finding, published online in the Journal of Biological Chemistry, suggests a target for future gene therapy to treat skin, head, neck, colon, and breast cancers. http://www.uphs.upenn.edu/news/News_Releases/nov06/Srcasm.htm In recognition of his over-fifty-year career at the University of Pennsylvania School of Medicine, Peter C. Nowell, MD, and his colleagues from Penn and other institutions will talk about the history of the Philadelphia chromosome and what it portends for the next generation of cancer therapies. http://www.uphs.upenn.edu/news/News_Releases/sep06/nowellITC.htm Researchers at the University of Pennsylvania School of Medicine recently discovered a novel mechanism that works over an extensive genomic distance and controls the expression of human growth hormone (hGH) in the pituitary gland. This mechanism involves a newly discovered set of 'non-coding RNA' expressed in the vicinity of the hGH gene. http://www.uphs.upenn.edu/news/News_Releases/aug06/hghgene.htm Researchers at the University of Pennsylvania School of Medicine, in collaboration with scientists at the City University of New York, have identified a striking dysregulation in neuronal receptor activity in the postmortem brain tissue from patients with schizophrenia. http://www.uphs.upenn.edu/news/News_Releases/jun06/schzrcptr.htm Researchers at the University of Pennsylvania School of Medicine have discovered part of the reason why cold sores, caused by a herpes virus, come back again and again. The new study, published online last month in Nature, points to a small RNA molecule, called a microRNA (miRNA) as the culprit that keeps the latent virus-infected cell alive. http://www.uphs.upenn.edu/news/News_Releases/jun06/HSV-1.htm Researchers at the University of Pennsylvania School of Medicine discovered that a protein called Elk-1 interacts with mitochondria, the energy storehouse of a cell, suggesting that this protein - typically active in the nucleus - could play a role in cell death, and mitochondria-related diseases such as neurodegeneration and schizophrenia. http://www.uphs.upenn.edu/news/News_Releases/jun06/BTSsem.htm