11/15
Genetics
Turning back the clock on a severe vision disorder
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
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.
Vision researchers honored by End Blindness 2020
Vision researchers honored by End Blindness 2020
The Outstanding Achievement Prize highlights the contributions of the School of Veterinary Medicine’s Gustavo D. Aguirre and the Perelman School of Medicine’s Jean Bennett and Albert M. Maguire toward a gene therapy for a form of blindness.
Key genes and cell pathways may be treatment targets for rare female lung disease
Key genes and cell pathways may be treatment targets for rare female lung disease
New research out of the Perelman School of Medicine finds that a deleted gene may be responsible for activating signaling pathways for lymphangioleiomyomatosis, and targeting the pathways may be a way to treat it.
In the News
Philadelphia Inquirer
A Philly biotech got $60M from a TED initiative for AI in medicine
David Fajgenbaum of the Perelman School of Medicine helped found Every Cure, a biotechnology nonprofit that employs AI to help match existing treatments to new diseases.
FULL STORY →
Stat
Study of gender-affirming care reveals immune system sex differences
Montserrat Anguera of the Perelman School of Medicine and the School of Veterinary Medicine comments on the work to comprehensively examine the impact of gender-affirming care on the immune system.
FULL STORY →
The New York Times
A disease that makes children age rapidly gets closer to a cure
Kiran Musunuru of the Perelman School of Medicine says there’s no guarantee that gene editing which worked well in mice will also work with human patients.
FULL STORY →
USA Today
She’s fighting to stop the brain disease that killed her mother before it gets her
Kiran Musunuru of the Perelman School of Medicine comments on shutting off genetic signals in the brain to hold off diseases.
FULL STORY →
The Washington Post
FDA approves two sickle cell therapies, including first CRISPR medicine
Kiran Musunuru of the Perelman School of Medicine says that gene editing will be the biggest story of the century.
FULL STORY →
Philadelphia Inquirer
More than 260,000 Penn Medicine patients have agreed to share their DNA for research, and the discoveries are just getting started
More than 260,000 people have signed up to participate in Penn Medicine BioBank, co-directed by Marilyn Ritchie and Dan Rader, which cross-references DNA with electronic health records to discover genetic variants of medical conditions.
FULL STORY →