In August 2009, representatives of the neurofibromatosis community and the Children’s Tumor Foundation met with others with interests in Noonan’s Syndrome, LEOPARD Syndrome, cardio-facio-cutaneous syndrome and Costello Syndrome. These genetic conditions share the commonality with neurofibromatosis Type 1 of being ‘Ras/MAPK pathway’ disorders, because the gene disruptions that cause these disorders affect the same molecular signals in the cell. These conditions share commonalities and might each help inform the clinical management of, and drug therapy development for, the other disorders.
Dr. Kate Rauen runs the Ras/MAPK Pathway Clinic at University of California San Francisco (also an Affiliate Clinic of the Children’s Tumor Foundation NF Clinic Network) which sees patients with all of these conditions. It was her clinical experience that prompted Dr. Rauen to organize the weekend workshop, where researchers, clinicians and parents met for information sharing, support and networking. Dr. Rauen is the lead author on the report of that workshop which is published* (link to abstract) this week in American Journal of Medical Genetics.
* Rauen, KA et al. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A.. [Epub ahead of print]
