Topic: Advances in Neurofibromatosis - The Future is Bright

Neurofibromatosis (NF) is a rare genetic disorder that predisposes patients to develop central and peripheral nervous system tumors. The types of NF include neurofibromatosis type 1 (1:2500), and all types of schwannomatosis (1:70,000), which includes neurofibromatosis type 2-related schwannomatosis (1:25,000). Formerly understudied and underfunded, this genetic cancer predisposition syndrome has caught the attention of basic science researchers and clinicians since the US FDA approval of the first MEK inhibitor for neurofibromatosis type I-related plexiform neurofibromas.

There remains a substantial unmet need for therapeutics that improve the quality of life for those affected by NF. As we continue to unravel the mysteries of tumor biology and the signaling pathways involved, the development of personalized therapies, especially in this era of precision medicine, holds great promise. The integration of genomic information into NF diagnostic criteria has helped clinicians diagnose patients earlier, improve prognostication, and inform treatment decisions.

In this edition of the rare disease journal, we invite authors to discuss the latest advances in neurofibromatosis research and highlight the importance of equitable care for patients from diverse backgrounds.

We welcome Original Research Articles, Review Articles, and Brief Communications. Topics planned for coverage include:

● Plexiform neurofibromas – What is next? 

● NF-2-related schwannomatosis - What is in the pipeline?

● Cutaneous neurofibromas - An unmet need for therapeutics;

● Neurofibromatosis type I-related Optic Pathway Gliomas – The past, present, and the future;

● Cell-free DNA for NF-related CNS tumors;

● NF1 and learning difficulties; 

● Preimplantation diagnosis for neurofibromatosis; 

● Gene therapy; 

● Reproductive issues in NF1; 

● Inclusive care for all, including LGBTQ patients.