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Penn Medicine Genetics News



The latest news about genetics and gene therapy from Penn Medicine - the University of Pennsylvania School of Medicine and Health System.



Copyright: 2011, The Trustees of the University of Pennsylvania
 



Genes Essential to Life Found in Mouse Mutants are Related to Many Human Disease Genes

Thu, 15 Sep 2016 17:30:00 GMT

About 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.



Penn Medicine Geneticist to Receive 2017 Laureate Award from Endocrine Society

Tue, 06 Sep 2016 16:00:00 GMT

Klaus H. Kaestner, PhD, will receive the 2017 Roy O. Greep Award for Outstanding Research from the Washington-based Endocrine Society.



Penn Study Verifies Human Gene Therapy in Model of Rare Metabolic Disorder

Thu, 28 Jul 2016 17:15:00 GMT

In 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.



Penn Medicine to Develop the Next Generation of Viral Vectors -- called AAV 3.0™ -- for Gene Therapies and Genome Editing

Wed, 29 Jun 2016 14:45:00 GMT

The 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.



Quieting Cells' Low-Oxygen Alarm Stops Flare-ups in Rare Bone Disorder, Penn Animal Study Finds

Mon, 02 May 2016 15:00:00 GMT

Scientists 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.



Genetic Risk Factors of Disparate Diseases Share Similar Biological Underpinnings, According to Genomics Research Collaboration

Fri, 29 Apr 2016 17:15:00 GMT

The 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.



Penn Study on Fragile X Syndrome Uses Fruitfly's Point of View to Identify New Treatment Paths

Mon, 26 Apr 2016 15:30:00 GMT

Fragile 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.



Drug Candidate Stops Extra Bone Growth in Animal Model of Rare, Genetic Disease

Wed, 13 Apr 2016 14:45:00 GMT

New 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.



Penn Study Shows a Form of Genetically Elevated "Good" Cholesterol May Actually be Bad

Thu, 10 Feb 2016 18:00:00 GMT

The 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.



New Mathematical Model Explains Variability in Mutation Rates Across the Human Genome

Thu, 18 Feb 2016 15:00:00 GMT

It 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.



"Gene Fusion" Mutation Uses Three-Way Mechanism To Drive Childhood Brain Cancers

Tue, 02 Feb 2016 16:45:00 GMT

A 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).



Viral Gene Editing System Corrects Genetic Liver Disease in Newborn Mice

Mon, 01 Feb 2016 15:00:00 GMT

For 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.



Penn-Led Team Reprograms Social Behavior in Carpenter Ants Using Epigenetic Drugs

Mon, 31 Dec 2015 18:00:00 GMT

In 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.



Penn Team Maps First Comprehensive Profile of Non-Protein-Coding RNAs to Provide Clinicians with New Way to Diagnose Array of Cancers

Mon, 12 Oct 2015 16:00:00 GMT

Most 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.



"Chromosomal Chaos:" Complex Array of Mutations Found in Rare, Aggressive Leukemia

Wed, 07 Oct 2015 16:30:00 GMT

Sezary 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.



Penn Study Details Powerful Molecular Promoter of Colon Cancers

Wed, 05 Aug 2015 18:00:00 GMT

Cancer 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.



Penn Medicine Researchers Receive $2 Million Grant from the American Heart Association

Fri, 17 Jul 2015 15:00:00 GMT

Daniel 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).



Penn Study Finds Cell Division Sign Posts for Chromosomes Along Microtubule Highway

Thu, 21 May 2015 19:30:00 GMT

A 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.



Penn Team Finds Protein "Cement" that Stabilizes the Crossroad of Chromosomes

Thu, 07 May 2015 18:00:00 GMT

A 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.



NIH Awards 8 Million Dollar Renewal to Penn Medicine's Center of Excellence in Environmental Toxicology

Thu, 30 Apr 2015 15:00:00 GMT

The 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.



Penn-Sponsored Million Dollar Bike Ride to Raise Awareness about Rare Diseases

Tue, 28 Apr 2015 16:00:00 GMT

The second annual Million Dollar Bike Ride will be held on Saturday, May 9, 2015, to support research and raise awareness about rare diseases.



Genomewide Screen of Learning in Zebrafish Identifies Enzyme Important in Neural Circuit

Mon, 23 Mar 2015 14:00:00 GMT

Researchers 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. 



Penn Study Points to New Therapeutic Strategy in Chronic Kidney Disease

Mon, 01 Dec 2014 15:00:00 GMT

Chronic 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.



Classification of Gene Mutations in a Children's Cancer May Point to Improved Treatments

Mon, 10 Nov 2014 16:00:00 GMT

Oncology 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.



Cancer Suppressor Gene Links Metabolism with Cellular Aging

Mon, 14 Jan 2013 15:00:00 GMT

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.



New Insights on Control of Pituitary Hormone Outside of Brain has Implications for Breast Cancer, Penn Study Finds
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