ITMAT in the News
Monday, May 2, 2016
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.
Monday, May 2, 2016
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
Friday, April 29, 2016
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.
Thursday, April 21, 2016
Using new high-resolution microscopy, a team from the Perelman School of Medicine and the School of Engineering and Applied Science at the University of Pennsylvania found that molecular struts called microtubules (MT) interact with the heart's contractile machinery to provide mechanical resistance for the beating of the heart.
Tuesday, April 19, 2016
Scientists from the Perelman School of Medicine at the University of Pennsylvania and Rutgers University have identified a biological pathway that potentially explains why current asthma therapies don't work well in many cases—and might be targeted to help those patients.
Wednesday, April 13, 2016
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.
Thursday, April 7, 2016
A team of researchers from the Perelman School of Medicine at the University of Pennsylvania have shed new light on how the structure of regulatory sequences in DNA is packaged in a cell.
Seeing Cell to Cell Differences for First Time Explains Symptoms of Rare Genetic Disorders, Finds Penn Study
Friday, April 1, 2016
Until now, researchers have lacked the tools to examine -- in a single cell --the exact readout from each genome to make RNA. Using a new technology that allows researchers to do just that, an interdisciplinary University of Pennsylvania team examined a rare disease in which these two genomes are expressed differently throughout the body, even sometimes in the same organ.
Wednesday, March 30, 2016
A team from the Perelman School of Medicine at the University of Pennsylvania has discovered the molecular mechanism that underlies cerebral cavernous malformations. They published their results this week online ahead of print in Nature.
Genomes of Chimpanzee Parasite Species Reveal Evolution of Human Malaria, According to Penn-led Study
Wednesday, March 23, 2016
n international team led by Beatrice Hahn, MD, a professor of Medicine and Microbiology from the Perelman School of Medicine at the University of Pennsylvania, and MD/PhD student Sesh Sundararaman, used a selective amplification technique to sequence the genomes of two divergent Plasmodium species, Plasmodium reichenowi and Plasmodium gaboni, from miniscule volumes of chimpanzee blood to find clues about the evolution and pathogenicity of Plasmodium falciparum, the deadliest malaria parasite that…