Genetics | Penn Today

Two cartoon hands holding lines of yarn, twisted into genetic shapes.

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.

Hand of a medical professional underneath a virtual rendering of a pancreas.

‘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.

First gene-editing treatment injected into the blood reduces toxic protein for up to 1 year

Kiran Musunuru of the Perelman School of Medicine commented on an experimental gene-editing treatment for a condition that has already responded well to approved drugs. “I think people are generally assuming that the clinical outcomes [from the gene-editing treatment] will follow,” he said.

Rendering of a brain and brain activity as a result of dots representing genetic information.

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.

DNA helix with a piece being removed by a surgeon’s glove with scissors.

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.

Visual representation of a DNA sequence.

Moving past conflation of race and genetics

Race is not genetic. Race is a social and political construct. However, the conflation of race and genetics is one way that racism persists in medicine and research.

Home DNA tests can lead to shock and trauma, but mental health resources are scarce

Dana Farengo Clark of the Abramson Cancer Center said many people come into the Center looking for support after taking a home DNA test that revealed their risk, as well as family members’ risk, for cancer. “A piece of the psychology of this is not only getting the result for yourself but then being the gatekeeper of that information,” she said.

A brain scan with highlighted genetic activity.

Genetic disease CDKL5 deficiency disorder could be treatable after childhood

The study finds that the CDKL5 gene, which plays an important role in proper brain development during childhood, is also active in adulthood, and that gene therapy may help adult patients.

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