UAB clinic provides support for NF families

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Published On: 12/30/2014

The University of Alabama Birmingham (UAB) NF Clinic takes place in the Kaul Human Genetics Building and is staffed by two physicians - Drs. Bruce Korf and Lane Rutledge. Patients and families of all ages and with all forms of NF - NF1, NF2, and schwannomatosis - are seen in the UAB clinic. The clinic provides diagnosis, genetic testing and counseling, long term follow-up, and management of NF-related problems. It is particularly important for individuals with NF to be followed by an experienced clinician on a regular basis; although the complications of the condition cannot be prevented, many of them can be effectively treated if diagnosed promptly. The UAB NF Clinic has access to pediatric and adult specialists of all types to provide consultation and management of problems associated with the disorder. Imaging services are also available, and there ere are systems in place to provide developmental and neurocognitive assessment.

Genetic testing is available to confirm the diagnosis if it cannot be made clinically, and can be used as a basis for genetic counseling. The UAB Medical Genomics Laboratory is the largest in the world that provides testing for NF and has set the standard for how testing is performed. The NF1 test was developed by investigators at UAB and detects mutations in 95% of affected individuals. Testing is also provided for tumor tissue or other biopsy tissue, such as cafe-au-lait spots, if the diagnosis cannot be established from a blood sample.

UAB is the coordinating center for the national NF Clinical Trials Consortium funded by the Department of Defense. The Consortium is currently conducting trials for plexiform neurofibromas, neurocognitive disorders, and gliomas. Trials are in process to address malignant peripheral nerve sheath tumors, bone dysplasias, and vestibular schwannomas associated with NF2.

The UAB NF Program includes investigators who are conducting research aimed at developing better modes of therapy. New mouse models have been created that will be used in drug screening, with the hope of advancing new treatments to clinical trials. Research is also underway on the mechanisms of mutation in the NF genes, whole genome sequencing of tumors to identify new drug targets, and the use of adult stem cells to model neurofibroma formation.

For more on the UAB NF Clinic, including information on UAB genetic testing for NF1, and NF2, visit uab.edu.

Dr. Korf has also created a web-based education site, understandingnf1.org.