Kleefstra Syndrome Awareness Day

On 17th September 2022 we were glad to host the Kleefstra Syndrome Awareness Day.

Kleefstra syndrome is a rare disease characterized by cognitive impairment and strong retardation in children with deficit in renal and cardiac systems. This syndrome, that was just recently identified, counts just few thousands of patients worldwide and only 58 in Italy.

In occasion of the World Kleefstra Syndrome Awareness Day, Mariella Priano with her italian Kleefstra association organized a conference at Tigem to share the scientific knowledge and progresses in research as well as the experiences in the rehabilitation treatments. The Conference was open by the talk of Tjitske Kleefstra, the dutch scientist who firstly discovered the syndrome, and counted on the presence of Nicola Brunetti-Pierri, pediatrician and genetist as well as Associate Investigator at Tigem. "In many cases, are the associations of families who guide the work of the investigators as they are the first to report which are the major symptoms of this very small population of patients and on which factors scientists have to investigate more".

While scientists, physicians and association representatives where discussing in the Tigem Auditorium, at the outside area of the ex Olivetti district  a team of volunteers were entertaining with games and activities some patients that join the conference, all of them in childhood, making of this event not only a day of exchange of scientific knowledge  but also a day of celebration of the commitment  and dedication  in dealing with phantom diseases, which however affect our children,