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NF Study of Genetic Mutations

Looking for people age 40 and over with NF Type 1

NF Study of Genetic Mutations

Researchers are looking for at least 1,000 people over the age of 40 with NF1 to participate in an exciting genome study. The goal of this study is to identify the genetic mutations that are involved in developing cutaneous neurofibromas AND other complications of NF1 by studying the whole genome. Participants will need to provide a saliva sample, photos, and complete a survey. No travel is involved. Enrolled participants will receive one year of access to their entire genome and a $25 gift card. To get to 1,000 participants we need to reach everyone with NF1 over 40 and to encourage their participation. Learn more HERE and be sure to share!


  • You must be 40 or over to enroll. The study will run until the summer of 2022. If you turn 40 before the study ends you can then sign-up. Currently, the study is restricted to people in the USA. This MAY change in the future.
  • Participants are required to submit photos of their face, arms, chest, and back. Legs are also welcome but optional. The purpose of the photos is to classify whether a participant has a “high” or “low” NF burden. Participants are welcome to cover up their chest or areas they are uncomfortable with, or not providing photos of those areas.
  • If you don’t have a camera or smartphone, you can send photos in another manner. Please, contact the investigators.
  • After enrolling and being accepted to the study, participates will receive a saliva kit. A prepaid envelope is provided and may be dropped off at any US Postal location.
  • The submission form references a consent form that will come up AFTER you complete the eligibility check list and submit.
  • If you have any questions, you may contact Ekshika at the email in the flyer.

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