Have an Impact on NF1 Care
Stanford University, in collaboration with Johns Hopkins University and The University of California San Francisco (UCSF), is conducting a large study to understand how an individual's genes affect their development of cutaneous neurofibromas and other features of NF1. Please consider participating and helping with scientific research.
Do I Qualify?
diagnosed with neurofibromatosis type 1
at least 1 cutaneous neurofibroma
40 Years and Older
Compensation & no-cost genetic testing Provided
Conducted remotely from anywhere
Study Background
Neurofibromatosis Type 1 (NF1) is an autosomal dominant disease affecting 1 in 2,500 individuals, associated with alterations of the neurofibromin (NF1) gene.
In addition to the NF1 gene, several studies suggest that other genetic mutations can contribute to the variability in clinical presentations of NF1.
The goal of this study is to identify the genetic mutations that are involved in affecting the clinical development of NF1 features by studying the genome of 1000 individuals with NF1.
This information may one day be used to predict manifestations of NF1 and improve NF1 care. We invite you to take part in this study with the potential to change the trajectory of care of those living with NF1.
Study Background
Neurofibromatosis Type 1 (NF1) is an autosomal dominant disease affecting 1 in 2,500 individuals, associated with alterations of the neurofibromin (NF1) gene.
In addition to the NF1 gene, several studies suggest that other genetic mutations can contribute to the variability in clinical presentations of NF1.
The goal of this study is to identify the genetic mutations that are involved in affecting the clinical development of NF1 features by studying the genome of 1000 individuals with NF1.
This information may one day be used to predict manifestations of NF1 and improve NF1 care. We invite you to take part in this study with the potential to change the trajectory of care of those living with NF1.
Additional Information
You may qualify for this study if you meet the following criteria.
Key Criteria:
- Diagnosed with Neurofibromatosis Type 1
- At least one cutaneous neurofibroma
- Adults 40 years and older
Once enrolled, this study involves:
- Online survey: Complete an online survey with a variety of questions
- Submit photos: Upload, text, or email photos of your cutaneous neurofibromas through a secure platform
- Saliva kit: Provide a saliva sample through a prepaid kit. This will be used to perform a whole genome sequencing test.
