9.18
Genetics
Test predicts which patients with rare blood disease will respond to treatment
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
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
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.
Pinpointing how cancer cells turn aggressive
Pinpointing how cancer cells turn aggressive
Penn scientists have developed a new method for tracing the lineage and gene expression patterns of metastatic cancer at the single-cell level.
The use and misuse of race in health care
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.
Discovery of a new genetic cause of hearing loss illuminates how inner ear works
Discovery of a new genetic cause of hearing loss illuminates how inner ear works
A gene called GAS2 plays a key role in normal hearing, and its absence causes severe hearing loss, according to a study led by researchers in Penn’s Perelman School of Medicine.
How humans evolved a super-high cooling capacity
How humans evolved a super-high cooling capacity
The higher density of sweat glands in humans is due, to a great extent, to accumulated changes in a regulatory region of DNA that drives the expression of a sweat gland-building gene, explaining why humans are the sweatiest of the Great Apes.
Mysterious ‘nuclear speckle’ cell structures may help block cancers
Mysterious ‘nuclear speckle’ cell structures may help block cancers
A new study out of Penn Medicine shows that the tumor-suppressor protein p53 brings speckles and DNA together to boost gene expression.
Gene therapy shows promise in initial trial for patients with childhood blindness
Penn Medicine researchers delivered working copies of the gene GUCY2D to the eyes of patients with severe vision impairments.
Turning back the clock on a severe vision disorder
Turning back the clock on a severe vision disorder
Gene therapy triggered the regrowth of healthy photoreceptor cells and restored vision in dogs with a severe form of Leber congenital amaurosis.
In the News
The Scientist
Signaling dynamics fine-tune gene expressiong
Lukasz Bugaj of the School of Engineering & Applied Science comments on a systematic and quantitative look at how gene information is transmitted and what can influence the amount of expression.
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WHYY (Philadelphia)
The census has revealed a more multiracial U.S. One reason? Cheaper DNA tests
Wendy Roth of the School of Arts & Sciences comments on the potential implications of genetic ancestry test results shaping how some people report their race for the census.
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Slate.com
Does a pie chart change who you are?
Wendy Roth of the School of Arts & Sciences conducted a study that found that people who take consumer DNA tests interpret the results differently according to their existing knowledge of genetics. “The way people interpret scientific evidence is not neutral,” she said.
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Forward.com
How genetics paint a picture of the Jewish past
Steven Weitzman of the School of Arts and Sciences commented on efforts to study Jewish genetics. While the research is “fascinating,” he acknowledges that it may make some uncomfortable. “There’s a lot of resistance to [genetic research] within the field of Jewish studies,” Weitzman said. “A lot of people remember or have in mind the role of race science in Nazism. So the idea that Jewish scholars would look in any way to genetics to understand Jewish identity or Jewish history and origins can make people concerned.”
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Huffington Post
A DNA test revealed this man is 4% black. Now he wants to abolish affirmative action
Wendy Roth of the School of Arts and Sciences spoke about DNA testing and its intersection with culture and identity. “Right now I don’t think that [companies selling at-home genealogy kits] are generally doing a good enough job of explaining how these tests should be interpreted and what the limitations are and what some potential negative impacts could be,” she said.
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Science
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.
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