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Genetics
Moving past conflation of race and genetics
Race is not genetic. Race is a social and political construct. However, the conflation of race and genetics is one way that racism persists in medicine and research.
Genetic disease CDKL5 deficiency disorder could be treatable after childhood
The study finds that the CDKL5 gene, which plays an important role in proper brain development during childhood, is also active in adulthood, and that gene therapy may help adult patients.
Novel gene therapy platform speeds search for ways to cure blindness
A newly developed single-cell RNA sequencing technique enables researchers to quickly identify an optimal vector for delivering therapeutic genetic material to treat vision disorders, and perhaps other genetic conditions.
National Academy of Medicine welcomes two new members from Penn
The Perelman School of Medicine’s Marylyn D. Ritchie and PIK Professor Sarah A. Tishkoff are among 100 new members to be elected this year to the Academy, one of the highest honors in health and medicine.
A two-pronged approach to keep rheumatoid arthritis in check
A new study led by George Hajishengallis of the School of Dental Medicine shows that the protein DEL-1 could reduce the painful inflammation of RA in an animal model.
Imaging technology maps cells tied to inflammatory bowel disease
“Imaging mass cytometry” shows how cells tied to inflammatory bowel disease affect intestinal tissue, generating new theories for the progression of Crohn’s disease and ulcerative colitis.
Test predicts which patients with rare blood disease will respond to treatment
A Penn Medicine study identifies blood proteins that indicate which patients with idiopathic multicentric Castleman disease are most likely to benefit from the only FDA approved treatment for the disease, and uncovers an alternative.
Penn researchers unlock genetic ‘treasure map’ for chronic kidney disease
The genome-wide association study pinpoints new target genes, cell types, and mechanisms for treating the disease that affects 850 people million worldwide.
Protein’s ‘silent code’ affects how cells move
A School of Veterinary Medicine-led study shows how, despite having nearly identical amino acid sequences, two forms of the protein actin differ in function due their distinct nucleotide sequences.
The use and misuse of race in health care
In a Q&A, PIK Professor Sarah Tishkoff, the Perelman School of Medicine’s Giorgio Sirugo, and Case Western Reserve University’s Scott Williams shed light on the “quagmire” of race, ethnicity, genetic ancestry, and environmental factors and their contribution to health disparities.
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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