We are fortunate and grateful for great minds and hearts’ the support , who excel not only scientifically but also in their human practices, motivated not only by intellectual curiosity or the will to excel, but by the passion to contribute to the well-being of others, sharing their precious time, budget and knowledge.

Research into UBTF defect disease has two main objectives at the moment: to describe the symptoms and natural history of the disease in detail and to identify a curative therapy. For this, an international multicentre clinical study has currently been initiated by Prof. Caterina Garone, while the N-Lorem foundation, in collaboration with the Massachusetts General Hospital, Prof. Eichler Florian has started N1-treatment with an antisense oligonucleotide therapy. But many more researchers are trying to work on disease models to better understand its pathogenesis.