Topic: Genetics and Treatment of Neurofibromatosis Type 1

Neurofibromatosis Type 1 (NF1) ranks among the most common rare disorders, with an incidence of ~1:2500. It is caused by pathogenic variants in the NF1 gene, with its hallmark feature being the development of neurofibromas – tumors originating from nerve sheaths. This tumor formation is closely linked to the inactivation of both NF1 alleles, which designates NF1 as a tumor suppressor gene. The consequences of NF1 loss extend across a wide spectrum of cell types and tissues, exhibiting significant variability among patients, even within the same family. Despite the discovery of the NF1 gene more than 30 years ago, our understanding of the function of its product, neurofibromin, remains incomplete. Presently, only one therapeutic option is available for the treatment of plexiform tumors, leaving a pressing need for additional therapies spanning various indications. This Special Issue is focused on exploring molecular genetics and the development of therapeutics for NF1. We anticipate a diverse range of articles, including the following topics: 

● Molecular basis of phenotypes (including non-tumor phenotypes); 

● Molecular genetics;

● Structure/function;

● Genotype-phenotype correlations;

● Tumor microenvironment;

● Omics studies;

● Protein interactors; 

● Functions outside of Ras;

● Preclinical models including cell lines and animals (mouse, rat, pig, non-human primate) or organoids;

● Preclinical and clinical studies;

● Development of novel treatments for tumor and non-tumor manifestations.