GenATAX

Hertie Academy 2023 GenATAX: tackling the missing heritability of inherited ataxias by large-scale advanced genomics

01/06/2023 to 31/05/2026

Technologies assessing the human genome have made astounding leaps since the start of genome projects, now having completed the telomere-to-telomere sequence of the entire human genome. However, interpretation of these enormous next-generation sequencing (NGS) datasets in the context of rare mendelian diseases remains difficult and thus a large group of patients with rare genetic disorders remain genetically undiagnosed. With high-effect targeted genomic therapies now rapidly commencing this diagnostic gap now poses a directly actionable medical need. GenATAX’s main objective is to harness latest advanced genomics technologies to tackle the missing heritability of inherited ataxias and to unravel novel genes and mutational mechanisms for ataxia-spectrum diseases.