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) 2009, The Trustees of the University of Pennsylvania http://www.pennhealth.com/images/pennmedicine_logo.jpg http://www.pennmedicine.org/news 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