Genetics | Penn Today

Trio of photos of vision researchers Gustavo Aguirre, Jean Bennett and Albert Maguire

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.

Microscopic lymphangioleiomyomatosis cells

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.

Microscopic rendering of the human microbiome, genetic material of all the microbes that live on and inside the human body.

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.

Three-panel comic strip called E. Coli Chronicles, A Magical Friendship

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.

Sequence of 8 MRI images showing treated versus untreated brains from 16 to 52 weeks

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.

Three renderings of illustrated brains, one is an abstract scribble, one looks cloudy and ephemeral, one looks like plant matter.

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.

illustration of a microscopic gene and the isolated protein with the mutation.

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.

Does a pie chart change who you are?

Wendy Roth of the School of Arts & Sciences conducted a study that found that people who take consumer DNA tests interpret the results differently according to their existing knowledge of genetics. “The way people interpret scientific evidence is not neutral,” she said.

A pair of hands using a personal blood sugar measuring device.

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.

scientists process samples in a field setting

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.

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