Perelman School of Medicine

Researchers at Penn Medicine have discovered that the tumor suppressor gene folliculin (FLCN) is essential to normal lung function in patients with the rare disease Birt-Hogg-Dube (BHD) syndrome, a genetic disorder that affects the lungs, skin and kidneys.

Two Penn Medicine research teams have received a total of $1,450,000 in funding commitments from CurePSP, the Foundation for PSP | CBD and Related Brain Diseases, to study rare neurodegenerative disorders that cause motor, balance and cognitive impairment.

The consequences of modern life -- shift work, cell phone addiction, and travel across time zones -- all disturb internal clocks. These are found in the brain where they regulate sleep and throughout the body where they regulate physiology and metabolism. Disrupting the clocks is called circadian misalignment, which has been linked to metabolic problems, even in healthy volunteers.

Leah Seifu, a second-year University of Pennsylvania medical student, says that her Ethiopian heritage and Catholic school education instilled in her a deep cultural awareness and drive to help others through social activism.

A multi-institutional team led by researchers at the Perelman School of Medicine at the University of Pennsylvania has found that despite widespread rumors of limited access to primary care services, providers across the country were capable of accepting new patients pr

How will we, as individuals, and a society, live with brains at risk for Alzheimer's disease dementia?

A new study in a mutant fruitfly called sleepless (sss) confirmed that the enzyme GABA transaminase, which is the target of some epilepsy drugs, contributes to sleep loss.

Combatting the tissue degrading enzymes that cause lasting damage following a heart attack is tricky. Each patient responds to a heart attack differently and damage can vary from one part of the heart muscle to another, but existing treatments can’t be fine-tuned to deal with this variation. 

Penn Medicine experts presented research findings that could come to define new standards of cardiovascular care, including findings on the efficacy of novel interventions for treatment resistant hypertension and atherosclerosis, at the 2014 American College of Cardiology Scientific Session, ACC.14.

Patients with leukocyte adhesion deficiency, or LAD, suffer from frequent bacterial infections, including the severe gum disease known as periodontitis. These patients often lose their teeth early in life.