Genetics

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.

DNA misfolding in white blood cells increases risk for Type 1 diabetes

A new Penn Medicine study shows that changes in a DNA sequence may cause chromosomes to misfold in a way that elevates the risk for autoimmune diseases.

closeup of newborn face wrapped in a blanket

How our ‘birth environment’ can influence our health

Mary Regina Boland studies how one’s “birth environment,” or the factors that a mother experienced while pregnant, affects health risks later in life, and what can actually be predicted while still in the womb.

liang feng, erica korb, and weijie su headshots

Three Penn faculty named 2020 Sloan Research Fellows

Engineer Liang Feng, neuroscientist Erica Korb, and statistician Weijie Su each received the competitive and prestigious award honoring early-career researchers.

Old Genealogy Family History Photographs and Documents

Do DIY DNA kits revive a harmful perceived link between genetics and race?

Research from sociologist Wendy Roth reveals that on average, these tests don’t reinforce the idea of essentialism, but how much participants know about genetics going in matters.

Cluster of luminescent sperm swimming upstream

Uncovering a defective sperm epigenome that leads to male infertility

A new mouse model allows researchers to track defective sperm and potentially find ways to correct it.

African American patient in a hospital bed

This genetic variant is underdiagnosed, under-recognized, and deadly

A genetic variant which is found in about 3 percent of individuals of African ancestry is a more significant cause of heart failure than previously believed, according to a multi-institution study led by researchers at Penn Medicine.

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