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Guest Blog: Search for NF1 Genetic Modifiers Seeks Patients and Researchers to Participate

By June 23, 2011December 18th, 2023Awareness, NF1, Science & Research

Today we feature a Guest Blog featuring a report from the 2011 NF Conference from Dr. Fawn Leigh, a pediatric neurologist at the Massachusetts General and Harvard Medical School. Dr. Leigh presented the following project at the Conference, and is looking for further research collaborators, as well as any persons with NF1 who would be willing to participate and donate tissue, whether or not they are currently under care of an NF clinic.

At the 2011 NF Conference in Jackson Hole I gave a talk highlighting my findings from a pilot study to identify modifier genes that may inform the identification of potential drug targets and treatments in NF1. The study focused on a search for modifier genes of cutaneous (dermal) neurofibroma tumor burden in NF1. This was done through a genome-wide association study (GWAS).  300 NF1 subjects identified as having either the largest or least 15% of cutaneous tumor burden were genotyped using the Affymetrix GeneChip 6.0 platform. This provided 909, 622 single nucleotide polymorphism (SNP) markers and >946,000 probes for copy number variants (CNV).  The analysis revealed potential hits (P values of 10-4 to 10-7) with multiple SNPs at each of several regions of the genome. Each of these segments constitutes a candidate region that merits genotyping in an additional cohort of extreme subjects to either confirm or refute its modifier status, which is ongoing.  The CNV analysis is in progress. The current GWAS study is a collaboration of six centers across the world.  Five new centers recently joined this project.

For researcher or patients seeking additional information about participating in this study, please contact:  Stephen Ranney (Clinical Research Coordinator)

Email:               Office: 617-724-2365