News Releases

Humans have a uniquely high density of sweat glands embedded in their skin—10 times the density of chimpanzees and macaques. Now, researchers at Penn Medicine have discovered how this distinctive, hyper-cooling trait evolved in the human genome.

A team led by scientists at the Perelman School of Medicine at the University of Pennsylvania has illuminated the functions of mysterious structures in cells called “nuclear speckles,” showing that they can work in partnership with a key protein to enhance the activities of specific sets of genes.

“One of the most exciting implications of our study is that the cilium may represent a common therapeutic target since it appears to be involved in a number of complex diseases,” said the study’s lead author, Theodore Drivas, MD, PhD, a postdoctoral fellow and clinical associate in Internal Medicine.

With doctors and researchers around the world searching for effective treatments for COVID-19, many drugs approved to treat other diseases are being used in hopes that they’ll be effective against the virus, a use that’s known as “off-label.”

Six years ago, David C. Fajgenbaum, MD, MBA, MSc, both a Penn Medicine researcher and patient, tried an experimental treatment based on his laboratory research findings in the hopes of saving his own life.

Now researchers at the Perelman School of Medicine at the University of Pennsylvania say they know what’s happening at the cellular level of the immune system when these cytokine storms occur, and the answer not only informs future potential Castleman therapies but may also provide new insight into why similar events take place in COVID-19 patients.

It’s known that genetics, or an inherited genome, is a major determinant of one’s risk for autoimmune diseases, like Type 1 diabetes.

Researchers at Penn Medicine discovered that adenine nucleotide translocator (ANT) is critical for a quality control process called mitophagy.

James Wilson, MD, PhD, recalls being struck by the devastating toll of rare diseases as a young physician in the 1980s. He set out on a path to correct the genes that cause these conditions, including spinal muscle atrophy (SMA), the most common inherited fatal disease in infants.