The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1). This will allow for improve understanding of NF1 pathogenesis and more personalized disease management. The investigators will conduct a GWAS analysis to identify common genetic risk variants associated with the development of cutaneous neurofibromas.
Neurofibromatosis 1
The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1). This will allow for improve understanding of NF1 pathogenesis and more personalized disease management. The investigators will conduct a GWAS analysis to identify common genetic risk variants associated with the development of cutaneous neurofibromas.
Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults with Neurofibromatosis Type 1
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Johns Hopkins University School of Medicine, Baltimore, California, United States, 21218
Stanford University, Redwood City, California, United States, 94063
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
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40 Years to
ALL
No
Stanford University,
Kavita Sarin, MD PhD, PRINCIPAL_INVESTIGATOR, Stanford University
Jaishri Blakely, MD, PRINCIPAL_INVESTIGATOR, Johns Hopkins University
Carlos Romo, MD, PRINCIPAL_INVESTIGATOR, Johns Hopkins University
2025-09-30