Drug Discovery and Development for Rare Genetic Disorders

A rare disease is any condition that has an extremely low prevalence on an individual basis, and most rare diseases are genetic disorders. Owing to the limited market size, expensive demand, and perhaps low financial return, research and development of rare disorder therapies have only recently increased internationally, in several domains including small-molecule pharmaceuticals and biologics. There is a considerable gap between fundamental research and patient unfulfilled demands for rare disease treatment development due to the complicated etiology and varying symptoms. Due to the regular developments in the methodology and techniques of drug discovery research, the development of drugs for the treatment of rare disorders can now be accelerated. Disorder organizations and research institutes across the world are working to better study rare diseases. The recent drug development methodologies for orphan diseases are discussed. Genome and pharmacogenetics studies provide interpretation for the disease etiology and treatment. Regarding the road map of small-molecule drug development, building up a compound library and bioassay development, virtual and experimental screening, hit confirmation and lead generation, preclinical and clinical studies, and drug registration are explained, and drug pharmacokinetics, formulation, and repositioning are illustrated. Biologics are considered, including protein replacement, oligonucleotide, antibody, and cell therapy.