Variation in Gene Expression in Neurofibromatosis Type 1

The Genetic Disease Research Branch of the National Human Genome Research Institute is recruiting subjects with neurofibromatosis type 1 (NF1) for a study examining the variability in phenotype between families and among family members. Eligible participants have a diagnosis of NF1 and are at least 16 years old. Study participants will undergo a two-day evaluation at the NIH Clinical Center, which will include a genetics evaluation, MRI of the spine, photography, and a blood draw. Family members will also be invited to participate. All testing and evaluations are free of charge and travel support is available. Please contact the Protocol Coordinator to learn more about the study or for an eligibility evaluation.

Jennifer Sloan, Ph.D., M.S.

Protocol Coordinator & Genetic Counselor

NHGRI/NIH

10 Center Dr. MSC 1205

Building 10, CRC, Room 3-2551

Bethesda, MD 20892

Phone: 301-451-9145

Fax: 301-496-7157

jsloan@mail.nih.gov

http://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2005-HG-0152.html

OR

http://www.genome.gov/16015146