Research for Rare - Research for rare diseases

NF1 – Network for Neurofibromatosis

Neurofibromatosis type 1 (NF1) is a hereditary disease with an incidence of 1/3000, affecting approximately 30.000 individuals in Germany. NF1 is among the most frequent genetic diseases and severely compromises health and quality of life. The problem in treating NF1 is its pleomorphic presentation with needs for therapy of tumors, osseous lesions, and of neuropsychological deficits and psychosocial consequences. The molecular basis of osseous lesions in NF1 patients is not understood. No effective treatment is available for plexiform and malignant peripheral nerve sheath tumors (MPNST), which are responsible for the reduced life expectancy of patients. Tumor related disfigurement is a hallmark of NF1 severely affecting self-esteem of patients. In addition, patients suffer from various neuropsychological deficits which contribute to reduced quality of life.
This consortium addresses the three areas most crippling to patients with NF1 by proposing clinical and preclinical research projects. We expect to achieve better tumor control of MPNST. We expect to make progress in addressing multiple aspects of NF1 by exploring the potential of neurofibromin substitution. We expect to increase our understanding of disturbed bone metabolism and to improve the therapy of demineralization and fractures in NF1 patients. We expect to gain knowledge on the complex psychosocial impact of NF1 patients and to optimize therapy in order to support or enable social integration.


Prof. Dr. Andreas von Deimling
Deutsches Krebsforschungszentrum (DKFZ)
Klinische Kooperationseinheit Neuropathologie
Im Neuenheimer Feld 280
69009 Heidelberg
Tel.: 06221 56-2604
Fax: 06221 56-4566