Personalized medicine for rare neurogenetic disorders: can we make it happen?

Rare neurogenetic disorders are collectively common, affecting 3% of the population, and often manifest with complex multiorgan comorbidity. With advances in genetic, -omics, and computational analysis, more children can be diagnosed and at an earlier age. Innovations in translational research facilitate the identification of treatment targets and development of disease-modifying drugs such as gene therapy, nutraceuticals, and drug repurposing. This increasingly allows targeted therapy to prevent the often devastating manifestations of rare neurogenetic disorders. In this perspective, successes in diagnosis, prevention, and treatment are discussed with a focus on inherited disorders of metabolism. Barriers for the identification, development, and implementation of rare disease-specific therapies are discussed. New methodologies, care networks, and collaborative frameworks are proposed to optimize the potential of personalized genomic medicine to decrease morbidity and improve lives of these vulnerable patients.

Automated summary

Rare neurogenetic disorders are common and often present with complex multiorgan comorbidity, affecting 3% of the population. Advances in genetic, -omics, and computational analysis enable earlier diagnosis and the development of treatment options such as gene therapy and drug repurposing. Targeted therapy can prevent the devastating manifestations of these disorders. The article discusses successes in diagnosis, prevention, and treatment, as well as barriers to implementing rare disease-specific therapies. New methodologies, care networks, and collaborative frameworks are proposed to optimize personalized genomic medicine for improving the lives of vulnerable patients.