The estimated global genetic prevalence of GBE1-related diseases — APBD and early-onset forms of Glycogen Storage Disease Type IV included — has been updated from 1 in 325,000 (reported in 2022) to 1/236,000. This updated estimate suggests that up to 34,000 people worldwide could be affected.
Our Foundation partnered with the Rare Genomes Project’s (RGP) Prevalence Study at the Broad Institute of MIT and Harvard — with support from the Chan Zuckerberg Initiative — to conduct a global genetic prevalence study of diseases resulting from changes on the GBE1 gene. The RGP’s publicly available tool, the Genetic Prevalence Estimator (GeniE), helps users estimate the carrier frequency and genetic prevalence for autosomal recessive conditions like APBD.
According to Samantha Baxter, MS, CGC at the RGP, “The 2022 prevalence study estimates were based on Genome Aggregation Database version 2 (gnomAD v2) which contains approximately 140,000 individuals (280,000 alleles). Now, using the newly released gnomAD v4, which contains over 800,000 individuals and a three-fold increase in non-Europeans, we have improved genetic prevalence estimates. In the case of GBE1-related diseases, those estimates went up.”
Samantha added, “What is important to understand is that these estimates are representative of what we know today, but what we ‘know’ is always evolving. It is important to continue to reassess these estimates any time new population data becomes available, especially for previously underrepresented groups.”
Understanding of GBE1-related diseases prevalence is critical to ascertaining the global burden of these diseases and improving the care of individuals and families impacted. Furthermore, it supports drug development efforts and informs public health policies. The Foundation is currently working with its academic partners and the RGP team to develop a manuscript for publication.