5.6
Genetics
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.
New test can detect presence of gene doping in equines
New test can detect presence of gene doping in equines
A team of Penn Vet researchers have created and validated a quantitative test that is able to detect the presence of a gene doping agent in plasma and synovial fluid quickly and conveniently.
Overlooked part of human cells could be genetic key to common diseases
Overlooked part of human cells could be genetic key to common diseases
Long thought a vestigial part of human cells, new genetic analysis of the primary cilium shows that it may be tied to common conditions like diabetes and kidney failure.
Five Penn faculty named 2021 Sloan Research Fellows
Five Penn faculty named 2021 Sloan Research Fellows
The fellowship recognizes extraordinary U.S. and Canadian researchers whose creativity, innovation, and research accomplishments make them stand out as the next generation of scientific leaders.
Stem cell study illuminates the cause of an inherited heart disorder
Stem cell study illuminates the cause of an inherited heart disorder
A new study from Penn Medicine shows that LMNA gene mutations can disrupt the ‘identity’ of heart muscle cells, leading to a congenital form of dilated cardiomyopathy.
A patient-powered registry boosts the study of a rare disease
A patient-powered registry boosts the study of a rare disease
A registry for Castleman disease lets patients initiate enrollment, increasing enrollment rates as well as the amount of clinical data and samples available to researchers.
Patients in cancer remission at high risk for severe COVID-19 illness
Patients in cancer remission at high risk for severe COVID-19 illness
Patients with inactive cancer and not currently undergoing treatments also face a significantly higher risk of severe illness from COVID-19, with Black cancer patients twice as likely to test positive for the virus.
In the News
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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PBS NewsHour
Genetic research has a white bias, and it may be hurting everyone’s health
PIK Professor Sarah Tishkoff and Giorgio Sirugo of the Perelman School of Medicine collaborated on a paper that concluded that predominately European genetic databases may lead to difficulties treating people from other racial backgrounds. “If we don’t include ethnically diverse populations, we are potentially going to be exacerbating health inequalities,” said Tishkoff.
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Wired.co.uk
Genetic research is the wrong way to make sense of ADHD
Jason Schnittker of the School of Arts and Sciences said that linking mental illness to genetics won’t do much to reduce stigma. Instead, he proposed, “it would help to show that mental illnesses are common, even if they’re not diagnosed, and while they can be severe, they can be managed effectively.”
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