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Genetics
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
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
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.
The sociology and science of genomes and biomes
Rebecca Mueller studies how infectious microbes like the coronavirus can affect communities of people with genetic vulnerabilities.
Away from the lab bench, Khoa Tran is a ‘science superhero’
The research fellow in the Berger Lab and co-founder of JKX Comics makes science and STEM disciplines more accessible by translating abstruse concepts into approachable comics.
Progress toward a treatment for Krabbe disease
The inherited disease, which typically kills children before their second birthday, has no cure, but a School of Veterinary Medicine study in a canine model offers hope for an effective gene therapy with lasting results.
New genetic cause of an inherited neuropathy discovered
A discovery by Penn researchers in siblings may hold answers to new gene therapies for Charcot-Marie-Tooth disease.
Rare genetic mutation leaves people at higher risk for multiple cancers
Researchers find a new and previously undiscovered mutation in a particular gene associated with a higher risk of multiple kinds of cancer, and can lead to modified screenings for this particular gene protein.
Researchers identify novel genetic variants linked to Type 2 diabetes
Largest-ever study of its kind finds variants that may predispose some people to develop the disease and related conditions like coronary heart disease and chronic kidney disease.
Parasites and the microbiome
In a study of ethnically diverse people from Cameroon, the presence of a parasite infection was closely linked to the make-up of the gastrointestinal microbiome, according to a research team led by Penn scientists.
In the News
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.
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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.
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Jim Wilson has two new promising gene therapy studies, but says investment in the cutting-edge field has ‘gotten worse’
Jim Wilson of the Perelman School of Medicine has published two new studies supporting the promise of cutting-edge gene therapy, finding evidence that the genetic treatments can be beneficial for years without raising the risk of cancer.
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Famed 5,300-year-old Alps Iceman was a balding middle-aged man with dark skin and eyes
Iain Mathieson of the Perelman School of Medicine says that the Iceman genome was one of the first ancient human genomes ever published.
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Philly gene therapy companies tap into city’s workforce training program for lab techs
Penn Medicine is noted for spearheading gene therapy for cancer treatment, being the first in the nation to use a gene editing tool to combat cancer in 2019.
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These eight diseases are so rare that drug firms haven’t tried treating them with gene therapy. A $97 million program aims to help
Gene therapy for a rare form of blindness will be tested at Penn Medicine while gene therapy for a condition that causes skeletal deformities and seizures will be tested at the Children’s Hospital of Philadelphia.
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