Research collaboration

We are currently performing a clinical phenotypic characterization of with pathogenic variants affecting the USP7 gene. The study will include blood work, including an endocrine assessment, lumbar puncture, X-ray studies to measure bone density, and a brain MRI. The goal of this study is to help understand the different physical and medical challenges that individuals with pathogenic variants in the USP7 gene face. It may also help physicians to screen for certain conditions before symptoms arise.