TY - JOUR
T1 - Personalized medicine for rare neurogenetic disorders
T2 - can we make it happen?
AU - van Eeghen, Agnies M.
AU - Bruining, Hilgo
AU - Wolf, Nicole I.
AU - Bergen, Arthur A.
AU - Houtkooper, Riekelt H.
AU - van Haelst, Mieke M.
AU - van Karnebeek, Clara D.
N1 - Funding Information: We are grateful to Mr. Roderick Houben (Health2Media) for the design of the figures and to Ms. Joyce de Bree (Amsterdam UMC) for administrative support. C.D.v.K. is a member of Metab-ERN. N.I.W. is a member of the European Reference Network for Rare Neurological Diseases (ERN-RND), project ID 739510. A.M.v.E. is a member of ERN ITHACA. Publisher Copyright: © 2022 van Eeghen et al.
PY - 2022/2/1
Y1 - 2022/2/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85127043222&partnerID=8YFLogxK
U2 - https://doi.org/10.1101/mcs.a006200
DO - https://doi.org/10.1101/mcs.a006200
M3 - Review article
C2 - 35332073
SN - 2373-2873
VL - 8
JO - Cold Spring Harbor molecular case studies
JF - Cold Spring Harbor molecular case studies
IS - 2
M1 - a006200
ER -