4/22
Genetics
$25M gift establishes Armellino Center of Excellence for Williams Syndrome at Penn Medicine
The generosity of Penn alumnus Michael Armellino creates a center for the care of patients with the rare genetic condition across all stages of life and propels scientific discovery.
Genomic differences selected through evolution may offer clues as to why COVID-19 outcomes vary widely
A team from the University of Pennsylvania analyzed genomic data from global populations, including thousands of ethnically diverse Africans, to identify genetic variants that may be associated with clinical COVID-19 outcomes.
Elizabeth Heller’s lab uncovers how drug addiction can create lasting changes in genes
Leading a neuroepigenetics lab at her alma mater, Heller and the work of her 10-person lab is focused on molecular brain mechanisms, aiming to uncover chronic changes that can happen and keep happening in the brain long after exposure to addictive substances ends.
Correcting night blindness in dogs
Researchers in the School of Veterinary Medicine and colleagues have developed a gene therapy that restores dim-light vision in dogs with a congenital form of night blindness, offering hope for treating a similar condition in people.
A new study finds genome refolding contributes to resistance to cancer therapy
While gene mutations can lead to drug resistance, researchers in the Perelman School of Medicine have identified an important, non-genetic adaptation that could also drive resistance to targeted therapy in T cell leukemia, a type of blood cell cancer.
‘Mapping’ pancreatic cells at the development of Type 1 diabetes
Penn Medicine researchers examine of the underpinnings of the disease by creating a “map” to chart pancreatic islet cells over time.
How one researcher is helping us better understand the brain through epigenetics
Erica Korb, assistant professor of genetics, combines microscopy, bioinformatics, biochemistry, and behavioral testing to better understand gene expression and its impact on brain development.
Changing the identity of cancer cells to eliminate them
A team led by the School of Veterinary Medicine’s M. Andrés Blanco has uncovered a new target for treating certain blood cancers that works by removing an obstacle to their maturation.
Novel gene therapy for hemophilia A
The multicenter study, led by researchers at the Perelman School of Medicine and Children’s Hospital of Philadelphia, showed improved and sustained production of a needed clotting factor and reduced bleeding events.
New gene-editing technique can ‘turn on’ enzymes that cause DNA base mutations
The novel Penn method of splitting specific mutator enzymes and then triggering them to reconstitute has been patented, and allows for new possibilities in biologic and therapeutic research, including cancer.
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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