Katholieke Universiteit Leuven (KU Leuven) UZLeuven is the hospital connected to the Katholieke Universiteit Leuven and it is the largest university hospital in Belgium. It is involved in the diagnosis and care of many rare diseases and participates in 19 European Reference Networks for rare diseases of which GENTURIS is one (GENetic TUmour RIsk Syndromes including neurofibromatosis).

The work will be carried out in the Centre for Human Genetics of UZLeuven by the Neurofibromatosis Research group headed by prof Eric Legius. He is involved in the care for patients with neurofibromatosis for more than 30 years and heads a multidisciplinary outpatient clinic for patients with neurofibromatosis type 1, neurofibromatosis type 2, schwannomatosis and Legius syndrome (NF1-like syndrome). He is also involved in molecular genetic research on many aspects of neurofibromatosis type 1 as part of the activities of the Neurofibromatosis Research group of the Department of Human Genetics of KU Leuven.

We previously participated in a clinical trial (SIMCODA) organized by the ENCORE team of the Erasmus University of Rotterdam (PMID: 24090588). We were one of the three institutes in a retrospective study of the clinical characteristics of atypical neurofibromas (PMID: 29409029). Our group did a prospective study on the prevalence and characteristics of autism spectrum symptoms in NF1 and participated in an international consortium on autism symptomatology in NF1 (PMID: 25388972, 25475362, 27760236). We have been participating in several genotypephenotype studies in neurofibromatosis type 1 and Legius syndrome (PMID: 30190611; 29290338; 26178382; 24232412; 19920235). We are also involved in basic research in neurofibromatosis, schwannomatosis and Legius syndrome.

The natural history study in the proposal is very similar to the retrospective analyses of atypical neurofibromas and the prevalence study of autism symptoms that we performed before (see under Expertise relevant to the activities).

We also have expertise in performing clinical studies in neurofibromatosis and in obtaining approval from the ethical committee.