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Genetics
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’
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.
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.
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.
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.
How one gene in a tiny fish may alter an aquatic ecosystem
Linking genomics to evolution to ecology, the work takes an unusual approach to reveal broad implications of how species adapt to their local environment.
The diversity of rural African populations extends to their microbiomes
In the largest study of its kind, researchers led by PIK Professor Sarah Tishkoff, Matthew Hansen, and Meagan Rubel investigated the gut microbiomes of people from Botswana and Tanzania, and illuminate the impact of lifestyle, geography, and genetics in shaping the microbiome.
Using fat cells to predict response to anti-diabetes drugs
In a new study, a team of researchers have demonstrated—using fat cells derived from human stem cells—that individual genetic variation can be used to predict whether the TZD rosiglitazone will produce the unwanted side effect of increasing cholesterol levels in certain individuals.
Personalized gene editing is a family affair
A new stem cell-based test aims to decrease the uncertainty of gene variants and their affect on a patient’s health.
Why we have hair here, but not there
A new study answers a fundamental question in human evolution about how and where hair grows on the body, and reveals the existence of a naturally-occurring inhibitor to hair growth.
In the News
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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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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Jim Wilson has two new promising gene therapy studies, but says investment in the cutting-edge field has ‘gotten worse’
Jim Wilson of the Perelman School of Medicine has published two new studies supporting the promise of cutting-edge gene therapy, finding evidence that the genetic treatments can be beneficial for years without raising the risk of cancer.
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Famed 5,300-year-old Alps Iceman was a balding middle-aged man with dark skin and eyes
Iain Mathieson of the Perelman School of Medicine says that the Iceman genome was one of the first ancient human genomes ever published.
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Philly gene therapy companies tap into city’s workforce training program for lab techs
Penn Medicine is noted for spearheading gene therapy for cancer treatment, being the first in the nation to use a gene editing tool to combat cancer in 2019.
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These eight diseases are so rare that drug firms haven’t tried treating them with gene therapy. A $97 million program aims to help
Gene therapy for a rare form of blindness will be tested at Penn Medicine while gene therapy for a condition that causes skeletal deformities and seizures will be tested at the Children’s Hospital of Philadelphia.
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