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Genetics
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.
A shared past for East Africa’s hunter-gatherers
A shared past for East Africa’s hunter-gatherers
PIK Professor Sarah Tishkoff, Laura Scheinfeldt, and Sameer Soi use data from 50 populations to study African genetic diversity. Their analysis suggests that geographically far-flung hunter-gatherer groups share a common ancestry.
In the News
Philadelphia Inquirer
A Philly biotech got $60M from a TED initiative for AI in medicine
David Fajgenbaum of the Perelman School of Medicine helped found Every Cure, a biotechnology nonprofit that employs AI to help match existing treatments to new diseases.
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Stat
Study of gender-affirming care reveals immune system sex differences
Montserrat Anguera of the Perelman School of Medicine and the School of Veterinary Medicine comments on the work to comprehensively examine the impact of gender-affirming care on the immune system.
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The New York Times
A disease that makes children age rapidly gets closer to a cure
Kiran Musunuru of the Perelman School of Medicine says there’s no guarantee that gene editing which worked well in mice will also work with human patients.
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USA Today
She’s fighting to stop the brain disease that killed her mother before it gets her
Kiran Musunuru of the Perelman School of Medicine comments on shutting off genetic signals in the brain to hold off diseases.
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The Washington Post
FDA approves two sickle cell therapies, including first CRISPR medicine
Kiran Musunuru of the Perelman School of Medicine says that gene editing will be the biggest story of the century.
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Philadelphia Inquirer
More than 260,000 Penn Medicine patients have agreed to share their DNA for research, and the discoveries are just getting started
More than 260,000 people have signed up to participate in Penn Medicine BioBank, co-directed by Marilyn Ritchie and Dan Rader, which cross-references DNA with electronic health records to discover genetic variants of medical conditions.
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