Douglas Stewart, M.D., a medical geneticist at the National Institutes of Health, is 
investigating differences in disease severity among individuals and families with 
neurofibromatosis type 1 (NF1). The purpose of the study is to look at the 
genetic differences among individuals with NF1 to understand why some people 
with NF1 have more severe disease than other people, also with NF1. 
Individuals age 16 years and older diagnosed with NF1 may be eligible to 
participate in this study. Participants can either be the first member of their 
family affected or have a family history of the disease. Parents and affected 
siblings will also be invited to participate. The study will include a two-day visit to 
the NIH Clinical Center for a genetics evaluation, MRI of the spine, photography 
and a blood draw. Medical evaluations will be free of charge and funding is 
available for travel expenses. 
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