Understanding global genetic diversity in FSHD and building international trial readiness

Investigator: Enrico Bugiardini PhD

Category: Research - Clinical

FSHD severity and the parts of the body it affects can vary from person to person. Up to now, most research into FSHD has been done on people who have European or Northeast Asian ancestry highlighting some differences in the size of the genetic defect leading to disease phenotype. However, we don’t know if people from other parts of the world also have aspects of FSHD that are unique to them. This includes India, where over 17% of the world’s population lives and Brazil, where close to 3% of one of the most genetically heterogeneous populations in the world resides We have spent 3 years developing a clinical network across the UK, Brazil, India, South Africa, Turkey and Zambia. Now, we will build on this work to examine the genetic and clinical features of FSHD in populations that have not been well-studied before. We will include a relatively new technique called “optical genome mapping”. Through this study, we hope to (1) deliver a better understanding of FSHD in populations from India and Brazil, (2) assemble a large and diverse cohort of FSHD families who may then be able to access future clinical trials, and (3) provide important data to demonstrate the applicability of optical genome mapping for FSHD diagnostics, which could help to establish in-country testing.