Myhre syndrome is in the headlines, and thanks to Dr Gerarda Cappuccio, who has been selected as the co-recipient of the prestigious 2022 John M. Opitz Young Investigator Award by the American Journal of Medical Genetics.
Dr Cappuccio’s award-winning paper “A pilot clinical trial with losartan in Myhre syndrome", describes the research she performed for her graduate thesis under the guidance of Dr. Nicola Brunetti-Pierri, one of our Professional Advisory Board members.
In the study three patients with Myhre syndrome were treated with losartan and they showed improvements in skin thickness, joint mobility and to a lesser extent of myocardial strain. Although further long-term controlled clinical trials with a larger number of affected individuals are needed, the study suggests that losartan might improve skin, joint and heart abnormalities of Myhre syndrome.
Dr. Cappuccio said. “As a pediatrician, I am motivated by the promise of translational and preclinical discovery in finding new treatments for patients with untreatable genetic conditions.”
The news reached the David W. Smith Workshop in Norfolk, VA, when on August 22, Dr. Angela Lin gave a talk to the geneticists about “Seeking Therapies for Myhre Syndrome”*, with Dr Cappuccio’s award being recognized. She acknowledged two recent papers by Dr. Gerarda Cappuccio who is now at Baylor University but mentored in Naples by Dr. Brunetti-Pierri. “The John M. Opitz Award Young Investigator is an impressive compliment to Dr. Cappuccio and increases awareness about Myhre Syndrome.”
*(co-authors Dr. Brunetti-Pierri, Dr. Lisa Schimmenti, Dr. Alicia Hinze, Dr. Lois Starr, Eleanor Scimone BS, and Dr. Mark Lindsay)