Thu, 15 Sep 2016 17:30:00 GMTAbout one-third of all genes in the mammalian genome are essential for life. An international, multi-institutional research collaboration identified, for the first time, mutant traits in the mouse for 52 human disease genes, which significantly contributes to the understanding of the genetic bases for some human diseases, including cardiovascular defects, spina bifida, and metabolic disorders, among many others.
Tue, 06 Sep 2016 16:00:00 GMTKlaus H. Kaestner, PhD, will receive the 2017 Roy O. Greep Award for Outstanding Research from the Washington-based Endocrine Society.
Thu, 28 Jul 2016 17:15:00 GMTIn an ongoing preclinical program using gene therapy to help cells restore normal levels of IDUA, researchers from the Perelman School of Medicine at the University of Pennsylvania have shown that exposure to the human IDUA protein early in the life of an MPS I canine model increased immune tolerance to the foreign gene.
Wed, 29 Jun 2016 14:45:00 GMTThe Perelman School of Medicine at the University of Pennsylvania has launched a new program, called AAV 3.0™, to create new viral vectors to find quicker and better treatments for an array of diseases.
Mon, 02 May 2016 15:00:00 GMTScientists from the Center for Research in FOP and Related Disorders at the Perelman School of Medicine at the University of Pennsylvania and colleagues examined the critical role of tissue hypoxia, or oxygen starvation, in the induction and amplification of FOP lesions, also called flare-ups.
Fri, 29 Apr 2016 17:15:00 GMTThe discovery of shared biological properties among independent variants of DNA sequences offers the opportunity to broaden understanding of the biological basis of disease and identify new therapeutic targets, according to a collaboration between the Perelman School of Medicine at the University of Pennsylvania, the University of Arizona Health Sciences, and Vanderbilt University.
Mon, 26 Apr 2016 15:30:00 GMTFragile X syndrome (FXS) is the most common genetically inherited cause of intellectual disability in humans. New research shows how the hormone insulin – usually associated with diabetes -- is involved in the daily activity patterns and cognitive deficits in the fruitfly model of FXS, according to a new study from the Perelman School of Medicine.
Wed, 13 Apr 2016 14:45:00 GMTNew preclinical research provides support to a drug that has been repurposed to possibly treat a rare and extremely disabling genetic bone disease, particularly in children. In that disease, fibrodysplasia ossificans progressiva (FOP), a mutation triggers bone growth in muscles, alters skeletal bone formation, and limits motion, breathing, and swallowing, among a host of progressive symptoms.
Thu, 10 Feb 2016 18:00:00 GMTThe generally accepted medical maxim that elevated HDL cholesterol (HDL-C) is "good" has been overturned by a multi-center, international study, led by researchers from the Perelman School of Medicine at the University of Pennsylvania.
Thu, 18 Feb 2016 15:00:00 GMTIt turns out that the type, how frequent, and where new mutations occur in the human genome depends on which DNA building blocks are nearby, found researchers from the Perelman School of Medicine at the University of Pennsylvania in an advanced online study published this week in Nature Genetics.
Tue, 02 Feb 2016 16:45:00 GMTA powerful, three-way mechanism by which a mutation drives the growth of childhood brain cancers, was discovered by scientists from the Perelman School of Medicine at the University of Pennsylvania and The Children's Hospital of Philadelphia (CHOP).
Mon, 01 Feb 2016 15:00:00 GMTFor the first time, researchers have treated an animal model of a genetic disorder using a viral vector to deliver genome-editing components in which the disease- causing mutation has been corrected.
Mon, 31 Dec 2015 18:00:00 GMTIn a new study published today in Science, a multi-institution team anchored at University of Pennsylvania found that caste-specific behaviors of carpenter ants are not set in stone.
Mon, 12 Oct 2015 16:00:00 GMTMost studies of genomic alterations in cancer have focused on the miniscule portion of the human genome that encodes protein. An international team, led by researchers at the Perelman School of Medicine at the University of Pennsylvania, has now changed all of that.
Wed, 07 Oct 2015 16:30:00 GMTSezary syndrome (SS), an aggressive leukemia of mature T cells, is more complicated at a molecular level than ever suspected, according to investigators from the Perelman School of Medicine at the University of Pennsylvania.
Wed, 05 Aug 2015 18:00:00 GMTCancer researchers already know of some oncogenes and other factors that promote the development of colon cancers, but they don't yet have the full picture of how these cancers originate and spread. Now researchers from the Perelman School of Medicine at the University of Pennsylvania have illuminated another powerful factor in this process.
Fri, 17 Jul 2015 15:00:00 GMTDaniel J. Rader, MD, chair of the Department of Genetics at the Perelman School of Medicine at the University of Pennsylvania, and Danish Saleheen, MD, PhD, an assistant professor of Biostatistics and Epidemiology, have been awarded a four-year, $2 million 2015 Grand Challenge Award from the American Heart Association (AHA).
Thu, 21 May 2015 19:30:00 GMTA system within cells that guides how chromosomes move during cell division was discovered by researchers led by co-senior authors Ekaterina Grishchuk, PhD, an assistant professor of Physiology at the Perelman School of Medicine at the University of Pennsylvania, and Helder Maiato, from the Universidade do Porto, Portugal.
Thu, 07 May 2015 18:00:00 GMTA new study by researchers at the Perelman School of Medicine at the University of Pennsylvania published in Science this week describes how the centromere is stabilized during replication.
Thu, 30 Apr 2015 15:00:00 GMTThe National Institutes of Environmental Health Sciences (NIEHS), part of the National Institutes of Health (NIH), has renewed its funding to the Center of Excellence in Environmental Toxicology (CEET), at the University of Pennsylvania's Perelman School of Medicine, for the next five years.
Tue, 28 Apr 2015 16:00:00 GMTThe second annual Million Dollar Bike Ride will be held on Saturday, May 9, 2015, to support research and raise awareness about rare diseases.
Mon, 23 Mar 2015 14:00:00 GMTResearchers at the Perelman School of Medicine at the University of Pennsylvania describe the first set of genes important in learning in a zebrafish model in the journal Neuron this week. "Using an in-depth analysis of one of these genes, we have already revealed an important relevant signaling pathway," says senior author Michael Granato, PhD, a professor of Cell and Developmental Biology.
Mon, 01 Dec 2014 15:00:00 GMTChronic kidney disease (CKD) affects at least one in four Americans who are older than 60 and can significantly shorten lifespan. Yet the few available drugs for CKD can only modestly delay the disease's progress towards kidney failure. Now, however, a team led by researchers at the Perelman School of Medicine at the University of Pennsylvania, has found an aspect of CKD's development that points to a promising new therapeutic strategy.
Mon, 10 Nov 2014 16:00:00 GMTOncology researchers studying gene mutations in the childhood cancer neuroblastoma are refining their diagnostic tools to predict which patients are more likely to respond to drugs called ALK inhibitors that target such mutations.
Mon, 14 Jan 2013 15:00:00 GMTA 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.