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Genetics
Cardiac genetic mutation may not always predict heart disease
Cardiac genetic mutation may not always predict heart disease
Researchers at Penn Medicine and Geisinger find only 5% of patients with a mutation of the TTN gene have dilated cardiomyopathy, despite changes in heart function.
Finding clues to a genetic link to treatment for BRCA1/2 breast cancer patients
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.
Researchers use gene editing with CRISPR to treat lethal lung diseases before birth
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.
Three from Penn elected to the American Academy of Arts and Sciences
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.
Study reveals overlapping and distinct genes associated with heavy drinking and alcoholism
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.
Unlocking the female bias in lupus
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.
Western bias in human genetic studies is ‘both scientifically damaging and unfair’
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.
Largest-ever Alzheimer’s gene study reveals five new genes that increase risk
Largest-ever Alzheimer’s gene study reveals five new genes that increase risk
The International Genomic Alzheimer’s Project analyzed information from more than 94,000 individuals and found new information on the underlying causes of Alzheimer disease, including five new genes that increase risk for the disease.
The link between sleep, genes, and mental health
The link between sleep, genes, and mental health
Whether you’re a night owl or a morning lark could affect your risk of developing a psychiatric disorder.
In the News
Smithsonian Magazine
Scientists break the rules of reproduction by breeding mice from single-sex parents
The Perelman School of Medicine’s Marisa Bartolomei offered commentary on same-sex reproductive experiments, which have proven easier in bimaternal than bipaternal pairings.
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Philadelphia Inquirer
Elizabeth Warren’s DNA test: How reliable is it? A Penn prof explains
Theodore Schurr of the School of Arts and Sciences said U.S. Sen. Elizabeth Warren’s genetic analysis, which used indigenous DNA samples from Peru, Mexico, and Colombia as reference points, was legitimate due to historical migration patterns.
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