Mysterious ‘nuclear speckle’ cell structures may help block cancers Mysterious ‘nuclear speckle’ cell structures may help block cancers A new study out of Penn Medicine shows that the tumor-suppressor protein p53 brings speckles and DNA together to boost gene expression.
Gene therapy shows promise in initial trial for patients with childhood blindness Gene therapy shows promise in initial trial for patients with childhood blindness Penn Medicine researchers delivered working copies of the gene GUCY2D to the eyes of patients with severe vision impairments.
Turning back the clock on a severe vision disorder A mutation in the NPHP5 gene leads to a severe blinding disorder, Leber congenital amaurosis. Dogs with the condition that were treated with a gene therapy regrew normal, functional cone cells, labeled in red, that had previously failed to develop. The treatment led to a recovery of retinal function and vision. (Image: Courtesy of Gustavo Aguirre and William Beltran) Turning back the clock on a severe vision disorder Gene therapy triggered the regrowth of healthy photoreceptor cells and restored vision in dogs with a severe form of Leber congenital amaurosis.
New test can detect presence of gene doping in equines New test can detect presence of gene doping in equines A team of Penn Vet researchers have created and validated a quantitative test that is able to detect the presence of a gene doping agent in plasma and synovial fluid quickly and conveniently.
Overlooked part of human cells could be genetic key to common diseases Overlooked part of human cells could be genetic key to common diseases Long thought a vestigial part of human cells, new genetic analysis of the primary cilium shows that it may be tied to common conditions like diabetes and kidney failure.
Five Penn faculty named 2021 Sloan Research Fellows Five Penn faculty named 2021 Sloan Research Fellows The fellowship recognizes extraordinary U.S. and Canadian researchers whose creativity, innovation, and research accomplishments make them stand out as the next generation of scientific leaders.
Stem cell study illuminates the cause of an inherited heart disorder Pictured, an iPSC-cardiomyocyte harboring an LMNA mutation. Researchers at Penn studied how mutations in LMNA impact how DNA is organized in the cell. (Image: Penn Medicine News) Stem cell study illuminates the cause of an inherited heart disorder A new study from Penn Medicine shows that LMNA gene mutations can disrupt the ‘identity’ of heart muscle cells, leading to a congenital form of dilated cardiomyopathy.
A patient-powered registry boosts the study of a rare disease A patient-powered registry boosts the study of a rare disease A registry for Castleman disease lets patients initiate enrollment, increasing enrollment rates as well as the amount of clinical data and samples available to researchers.
Patients in cancer remission at high risk for severe COVID-19 illness Patients in cancer remission at high risk for severe COVID-19 illness Patients with inactive cancer and not currently undergoing treatments also face a significantly higher risk of severe illness from COVID-19, with Black cancer patients twice as likely to test positive for the virus.
New statistical method exponentially increases ability to discover genetic insights New statistical method exponentially increases ability to discover genetic insights A test of the Sum-Share method found 1,734 genetic variations associated with cardiovascular-related conditions when just one had previously been likely.