A New Disorder

May 18, 2017

M. Chiara Manzini’s curiosity was piqued when she met a set of new patients.

“The patients were very short, and they had skeletal deficits,” explains Manzini, Ph.D., an assistant professor at the George Washington University (GW) Institute for Neuroscience and the Department of Pharmacology and Physiology at the GW School of Medicine and Health Sciences.

M. Chiara Manzini

In the severe forms of congenital muscular dystrophy she studies, patients typically present with progressive muscle weakness as well as intellectual disability and vision issues such as cataracts. The additional characteristics her patients displayed, however — short stature and unique skeletal features — were highly unusual.

Manzini collaborated with scientists from around the globe, and they discovered that the removal of a specific gene, INPP5K, resulted in the muscle disruption, lens disruption, and smaller brain that she had observed. In other words, Manzini and her fellow researchers had discovered a new type of congenital muscular dystrophy. The group has since published two papers and is working to better understand how the INPP5K gene functions in the muscle and the brain.

“The gene is very interesting, so we’re definitely going to keep pursuing it,” Manzini says. “Hopefully, it’s going to be interesting to other people. From a science standpoint, it’s a different mechanism from what had been previously looked at in these disorders. It may change the way we think about them.”

Latest News

September 23, 2021
Celebrating the George Washington University bicentennial reflecting on the School of Medicine and Health Sciences’s (SMHS) 197 years at the university.
March 2, 2021
The George Washington University is participating in another COVID-19 vaccine clinical trial. GW was selected as one of approximately 25 sites in the United States to launch a Phase II study for the Sanofi COVID-19 adjuvanted recombinant protein-based COVID-19 vaccine candidate.
February 25, 2021
The George Washington University (GW) Office of the Vice President for Research and the GW School of Medicine and Health Sciences gave COVID-19 research a shot in the arm through the FY21 COVID-19 Research Fund competition.