Research begins with the aim of identifying a drug for the ultra-rare Chops syndrome.
Acronym in English for cognitive delay, heart defect, obesity, lung involvement and skeletal dysplasia, the syndrome has only 33 known cases in the world, 4 of which in Italy.
Among them Luce, 16 years old from Pistoia, and little Mario, two years old. The push for research came from the Chops Rare Diseases Ets Foundation, of which the mothers of the two children are respectively vice-president and president, in collaboration with the Boston company Unravel with which an agreement was signed. “We are finally starting – specifies Manuela Mallamaci, Mario’s mother and president of the Chops Foundation – the first phase of pharmacological screening, thanks to the investment of around 70 thousand euros raised with our awareness campaign. I thank the members of the Foundation and all the people who are contributing with a donation. We are confident, but realistic and we know that many more funds will be needed to continue.”
“The screening that we intend to launch will be useful for identifying a drug potentially capable of alleviating one or more symptoms that characterize Chops – adds Mallamaci -. We rely on Unravel which uses a cutting-edge approach, potentially characterized by a rapid and effective. Data from Chops patients will be collected and combined, using artificial intelligence algorithms. At the suggestion of our experts, we have also decided to involve a group of patients suffering from a similar genetic condition: Cornelia de Lange syndrome. We intend to find out whether this could be a way to intervene and improve the living conditions of those affected by these rare genetic diseases.” “At the same time, we are announcing a call for a researcher who, for the first 12 months that we will be able to finance with 100 thousand euros already collected, will conduct an in-depth activity – concludes a note from the Chops Foundation -. It would be nice if the possibility became concrete in 2024 to plan the second step for the research”.
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