Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia

A major challenge in diagnosing neurogenetic disorders is the difficulty in interpreting sequence variants and the high prevalence of variants of uncertain significance, largely owing to the incomplete catalog of human variants across populations. The geographic location of the region at the crossroads between Europe and East Asia, along with its history of numerous wars, invasions, diverse geography and climate, mass migrations, famines, nomadic lifestyles and trade through the Silk Road, have all shaped the genetic landscape of these populations. [...]molecular diagnosis has given families essential information for decision-making. In addition to identifying causative variants in established disease-causing genes, our project has characterized several novel gene-disease associations in the CAT region.