Genetics | Penn Today

The next frontier of precision medicine: Parkinson’s disease

The Molecular Integration in Neurological Diagnosis (MIND) Initiative is working to understand the nature of Parkinson's disease with molecular-level accuracy, so doctors can treat the root cause.

Knockdown and replace: A gene therapy twofer to treat blindness

More than 150 different mutations in the light-sensing molecule rhodopsin can cause retinitis pigmentosa, characterized by a progressive loss of night and peripheral vision, and a team of researchers have developed a treatment for the condition. Successful results in dogs set the stage for testing in humans.

Study finds mutation driving deadly brain tumors, and a potential remedy

Researchers at Penn and the Ludwig Institute for Cancer Research discovered that a mutation in the epidermal growth receptor gene indicates a severe glioblastoma, and targeting this particular gene may further treatment.

Correcting a blind spot

A groundbreaking genetic study seeks to transform the prevention and treatment of glaucoma while reversing historical racial disparities in who suffers from the disease, and who benefits from such research.

Michal Elovitz is a professor of obstetrics and gynecology at the Perelman School of Medicine and director of the Maternal and Child Health Research Center. (Photo: Christian Peacock)

Could a new blood test predict preterm labor?

Research that included Medicine’s Michal Elovitz reveals that a non-invasive blood test might have the ability to determine a baby’s gestational age in utero and predict preterm delivery.

The varying skin colors of Africa: Light, dark, and all in between

A team of geneticists led by Sarah Tishkoff, a Penn Integrates Knowledge Professor, has shown that there is a huge amount of variation of skin color within Africa, ranging from skin as light as some Asians to the darkest skin on a global level.

Quayshawn Spencer, an assistant professor in the philosophy department, studies the philosophy of science, biology, and race.

Race has a place in human genetics research, philosopher argues

New research out of the philosophy department argues that certain racial classifications have utility in medical genetics, particularly when considering those classifications as ancestry groups.

African American patient in a hospital bed

Genetic variant largely found in patients of African descent increases risk for heart failure

A new study, led by Penn Medicine, reveals that this genetic cause of heart failure, which is now treatable, is significantly underdiagnosed.

3D renderings of antibody molecules and brain cells

AI tool helps find life-saving medicine for rare disease

Set to enter hospice care, a patient with idiopathic multicentric Castleman’s disease is now in remission after treatment with a medication predicated as the top treatment by an AI-guided analysis.

First baby to undergo gene editing takes first Steps: ‘It’s all been a miracle’

One-year-old KJ Muldoon is walking at home after being hospitalized last holiday because of a rare genetic disorder that was treated with gene-editing therapy developed at Penn Medicine and the Children’s Hospital of Philadelphia.

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