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

Considerable advancements in genomic medicine since the Human Genome Project have provided molecular diagnoses to many families with rare diseases, including rare pediatric neurological diseases (RPND). These advancements have paved the way for personalized medicine, substantially increasing our understanding of human physiology and biochemical pathways. They have also opened new avenues for innovative and more effective treatments, benefiting not only those with rare diseases but also individuals with more common conditions.

However, despite these advancements and the decreasing cost of high-throughput sequencing, many regions worldwide remain underrepresented in human genetic research. Even in developed countries with access to state-of-the-art medical facilities, many families remain without a definitive diagnosis. 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. This issue is further exacerbated by the scarcity of individuals with genetically confirmed rare diseases, driven by limited access to next-generation sequencing and comprehensive genetic testing for the majority of people globally.