President Manuela Mallamaci ‘We will be collaborating with Kosuke Izumi, who, along with Ian Krantz, co-discovered the syndrome. Additionally, we will be working with Ilaria Parenti from Duisburg University and Jun Young Sonn from Baylor College of Medicine in Houston, Texas.’

“We have signed our first three contracts and are now ready to see basic research investigating the as-yet-unknown biological mechanisms that characterise CHOPS syndrome come to life. These are important contracts with authoritative institutions. Kosuke Izumi, discoverer with Ian Krantz of the syndrome, from the University of Texas, Ilaria Parenti from Duisburg University, and Jun Young Sonn from Baylor College of Medicine in Houston, Texas. They are the professionals who mark a crucial moment in the Foundation’s work’.

Manuela Mallamaci, president of CHOPS Rare Diseases Foundation and the mother of little Mario, announced this.

The CHOPS Foundation is the world’s first and only non-profit organisation to research a cure for this rare, multi-organ syndrome.

CHOPS syndrome, an acronym representing its associated symptoms—cognitive delay, heart defect, obesity, lung involvement, and skeletal dysplasia—currently has only 34 documented cases worldwide, with just four of these cases located in Italy, including that of little Mario.

Kosuke Izumi, a researcher at the University of Texas Southwestern Medical Center in Dallas, first in line for the $100,000 + $100,000 (approximately €92,500 + approximately €92,500) grant, discoverer with Ian Krantz of the syndrome with the first diagnosis made at the Children’s Hospital of Philadelphia in 2015. Ilaria Parenti, a researcher at the Institute of Human Genetics at the Essen University Hospital of Duisburg University in Germany, and Jun Young Sonn, a researcher at Baylor College of Medicine in Houston, Texas, tied for the $20,000 (around €18,500) grant. These are the three researchers who, between the United States and Europe, will start up the first projects that have been announced and awarded, following the evaluation and medical-scientific commission by the Chops Rare Diseases Foundation, with two operating sites in Reggio Calabria and Palermo.

Lawyer Marco Del Pinto, founder of Del Pinto e Associati – Studio Legale and partner of the CHOPS Foundation: “Our firm has been assisting the Foundation pro bono since its establishment, and it is with great satisfaction that it has also provided legal support for the negotiation and drafting of the last three medical-scientific research contracts signed with internationally prestigious institutions and researchers. 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. Thanks to our work, the Foundation’s commitment, donations, and scientific expertise, we will soon arrive at helpful knowledge that will bring us closer to discovering a cure.

“We are delighted with this achievement, which now also commits the foundation to basic research. Applied research has already been started. It is our intention to proceed with the two activities in parallel. We consider it strategic to ensure the effectiveness of our research. A few months ago, in fact,’ explains Manuela Mallamaci, president of the CHOPS Rare Diseases Foundation, ‘the Boston-based biotechnology 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. We are now developing the next phase. We are going to fund a project to test the drugs in the lab on cell lines obtained from the samples of people with CHOPS from different continents (US, Australia, Europe) . In vivo testing will also be necessary. We also involved another group of eight patients suffering from Cornelia De Lange syndrome. Our medical committee thought it would be useful to investigate possible correlations with this other rare genetic syndrome. After all, it is our goal to space out research in the field of rare neurodevelopmental diseases. We are working with a serious and scientific approach that could also be a model for groups of patients with another rare disease,’ continues Manuela Mallamaci, president of the CHOPS Rare Diseases Foundation and Mario’s mother.

The medical-scientific committee, composed of Ian Krantz, discoverer with Kosuke Izumi of the syndrome with the first diagnosis made at the Children’s 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 CHOPS Rare Diseases Foundation.

“We do not intend to stop, but we need the solidarity and support of the people to continue supporting us. The Foundation has already started projects with more than 300,000 euros raised. Complex and challenging projects. It will be crucial,’ Manuela Mallamaci emphasises, ‘to continue by activating the best minds on an international level to shed light on this disease. So, it will be necessary to continue raising funds. We have initiatives on the horizon in Reggio Calabria, Padua, Pistoia, Caserta, Treviso, Salerno, Palermo, and other Italian cities. We are open to receiving suggestions and proposals that may enable us to increase the resources invested in the projects we have started and those we will start. Path Along, which we are also using, is the documentary that tells the story of the Foundation donated and created by the Reggio Calabria director Antonio Melasi.

At the same time, the Foundation is committed to promoting its work internationally and involving families in this awareness-raising process.

We have established contacts that we consolidated last July during the international symposium on CHOPS syndrome, which we co-organized in Philadelphia. Our aim is to nurture these relationships with the intention of collaborating with individuals who wish to support us and share their stories and experiences with the foundation. “We maintain an open approach focused on research and information sharing to enhance awareness of the many diseases that remain rare today,” concludes Manuela Mallamaci, president of the CHOPS Rare Diseases Foundation and mother of Mario.

From left to right, the researchers Kosuke Izumi, Ilaria Parenti and Jun Young Sonn

Reggio Calabria, Italy – December 6th 2024