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Genetics
Scientists discover a key quality-control mechanism in DNA replication
New research from Penn Medicine advances the understanding of DNA replication and could have relevance for neurologic diseases and other conditions.
A novel technique to form human artificial chromosomes
Penn researchers say the new technique for making human artificial chromosomes from single, long constructs of designer DNA will allow for more efficient laboratory research.
Mega-analysis identifies gene variants associated with glaucoma in people of African ancestry
A Penn Medicine analysis aims to fill knowledge gaps and help guide clinical decisions for a group particularly vulnerable to developing glaucoma.
Two-and-a-half decades of research in Malawi
As the country’s life expectancy has risen, the Malawi Longitudinal Study of Families and Health has shifted its current and future research to aging.
More than skin deep: A molecular and mechanistic look at pigmentation variation
A new collaborative study offers a better understanding of genes and variants responsible for skin color, providing insights into human evolution and local adaptation.
Neanderthals carried genes acquired from ancient interactions with ‘cousins’ of modern humans
A new collaborative study led by Sarah Tishkoff shows that Neanderthals inherited at least 6% of their genome from a now-extinct lineage of early modern humans.
An unsolved mystery: Why are we sleepy when sick?
David Raizen, a professor of neurology, alongside PURM student Hina Sako, spent the summer moving forward research examining how sickness affects sleep.
Genetic switch turns tumor suppressor into oncogene in colorectal cancer
Researchers from the School of Veterinary Medicine have shown that an enzyme that suppresses early-stage colorectal cancer switches to become an oncogene as the cancer progresses.
‘In vivo’ RNA-based gene editing model for blood disorders developed
Researchers from Penn Medicine and The Children’s Hospital of Philadelphia show that gene editing tools can be delivered via lipid nanoparticles, which would reduce cost and increase access to cutting-edge gene therapies.
Katalin Susztak hunts for a cure for kidney disease
Throughout her career, the professor of internal medicine, nephrology, and genetics has had a profound impact on the way kidney disease is identified, prevented, and managed.
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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