News Releases

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.

A large genomic study of nearly 275,000 people led by Penn Medicine researchers revealed new insights into genetic drivers of heavy drinking and alcohol use disorder (AUD), the uncontrollable pattern of alcohol use commonly referred to as alcoholism.

A new treatment for patients with a form of congenital retinal blindness has shown success in improving vision, according to results published today in Nature Medicine led by researchers at the Scheie Eye Institute in the Perelman School of Medicine at the University of Pennsylvania.

Penn Medicine will join four other leading clinical research organizations to understand the dynamic balancing act of the human immune system, how it senses friend from foe and what goes wrong during illness.

Researchers have discovered a way to grow human stem cells destined to become mature sperm in an effort to provide fertility options later in life to males who are diagnosed with cancer and undergo chemotherapy and radiation as children.

Viral vectors used to deliver gene therapies undergo spontaneous changes during manufacturing which affects their structure and function, found researchers from the Perelman School of Medicine at the University of Pennsylvania in a study published in Molecular Therapy.

A new method for sequencing the chemical groups attached to the surface of DNA is paving the way for better detection of cancer and other diseases, according to research from the Perelman School of Medicine at the University of Pennsylvania published today in Nature Biotechnology.

For the first time, scientists have performed prenatal gene editing to prevent a lethal metabolic disorder in laboratory animals, offering the potential to treat human congenital diseases before birth.

New findings from a team led by University of Pennsylvania vision scientists, who have in the past taken gene therapies into clinical trials, are proving successful, this time treating a form of retinitis pigmentosa, a disease that progressively robs people of their night and peripheral vision before blindness develops.