Genetics | Penn Today

Microscopic image of breast cancer cells.

Finding clues to a genetic link to treatment for BRCA1/2 breast cancer patients

New research could shape treatment strategies and clinical trial design for patients with BRCA1 and BRCA2-related breast cancers.

New spinal muscle atrophy treatment gains approval

Zolgensma is based on a delivery system discovered by a Penn gene therapy pioneer, marking a new milestone in treating the rare disease.

As gene testing surges, lawsuits aren’t far behind

Reed Pyeritz of the Perelman School of Medicine co-published a policy statement suggesting that doctors do their best to recontact patients if the interpretation of a genetic test’s results evolves over time.

CRISPR-edited lung cells (green) with EGFP fluorescent protein.

Researchers use gene editing with CRISPR to treat lethal lung diseases before birth

Using CRISPR gene editing, a team from Penn Medicine and Children’s Hospital of Philadelphia have thwarted a lethal lung disease, in which a harmful mutation causes death within hours after birth.

Anita Allen, Daniel Rader, and Zeid Ra'ad Al Hussein

Three from Penn elected to the American Academy of Arts and Sciences

Vice Provost for Faculty Anita Allen of the Law School and the School of Arts and Sciences, Daniel Rader of the Perelman School of Medicine, and Zeid Ra’ad Al Hussein of Perry World House join a group recognized for their world-class leadership and expertise.

person wearing a camouflage jacket in a wheelchair holding a tumbler of alcohol

Study reveals overlapping and distinct genes associated with heavy drinking and alcoholism

In the largest-ever genome-wide association study of both traits in the same population, a team of researchers found 18 genetic variants of significance associated with either heavy alcohol consumption, AUD, or both.

Microscopic images of cells are blue with diffuse splotches of pink on each cell.

Unlocking the female bias in lupus

The majority of lupus patients are female, and new findings from Montserrat Anguera of the School of Veterinary Medicine and colleagues shed light on why. The research suggests that female lupus patients don’t fully silence their second X chromosome in T cells, leading to an immune response gone awry.

A large group of people sit on the ground outside, roughly in a circle around a group of presenters in the African landscape.

Western bias in human genetic studies is ‘both scientifically damaging and unfair’

In a commentary in the journal Cell, PIK Professor Sarah Tishkoff and Giorgio Sirugo shine a light on the lack of ethnic diversity represented in genomic studies, and the consequences for health and medicine.

Genetic research has a white bias, and it may be hurting everyone’s health

PIK Professor Sarah Tishkoff and Giorgio Sirugo of the Perelman School of Medicine collaborated on a paper that concluded that predominately European genetic databases may lead to difficulties treating people from other racial backgrounds. “If we don’t include ethnically diverse populations, we are potentially going to be exacerbating health inequalities,” said Tishkoff.

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