CHOPS Rare Diseases Foundation launches investigation into biological mechanisms of the rare syndrome
Summary
Manuela Mallamaci, president of CHOPS Rare Diseases Foundation and the mother of little Mario, announced this.The CHOPS Foundation is the worlds first and only non-profit organisation to research a cure for this rare, multi-organ syndrome.CHOPS syndrome, an acronym representing its symptoms - cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, and skeletal dysplasia and short stature - currently has only 34 documented cases worldwide, including that of little Mario in Italy.Kosuke Izumi, from the University of Texas Southwestern Medical Center in Dallas, first in line for the $100,000 + $100,000 grant. These agreements represent a crucial step in consolidating strategic collaborations aimed at investigating and tackling a syndrome that is as rare as it is complex, as well as a fundamental milestone for the Foundation, guaranteeing a solid legal basis to pursue its mission of research and innovation. A few months ago, in fact, explains Mallamaci the company Unravel Bioscience provided us with a list of very promising drugs to be tested that could alleviate one or more symptoms of CHOPS and improve patients quality of life. After all, it is our goal to space out research in the field of rare neurodevelopmental diseases continues Mallamaci.The medical-scientific advisory board, composed of Ian Krantz, CHOPS discoverer with Izumi with the first diagnosis made at the Childrens Hospital of Philadelphia in 2015, Andrea Ballabio, Valentina Massa, Ali Shilatifard, Emanuela Scarano, Katsuhiko Shirahige, Eleonora Orlandini, Sara Bozzetto, and Neil Hackett, guarantees the work of the Foundation. Path Along, which we are also using, is the CHOPS documentary donated and created by the director Antonio Melasi.The Foundation is committed to promoting its work internationally and involving families in this awareness-raising process.