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From target discovery to clinical drug development with human genetics

The substantial investments in human genetics and genomics made over the past three decades were anticipated to result in many innovative therapies. Here we investigate the extent to which these expectations have been met, excluding cancer treatments. In our search, we identified 40 germline genetic observations that led directly to new targets and subsequently to novel approved therapies for 36 rare and 4 common conditions. The median time between genetic target discovery and drug approval was 25 years. Most of the genetically driven therapies for rare diseases compensate for disease-causing loss-of-function mutations. The therapies approved for common conditions are all inhibitors designed to pharmacologically mimic the natural, disease-protective effects of rare loss-of-function variants. Large biobank-based genetic studies have the power to identify and validate a large number of new drug targets. Genetics can also assist in the clinical development phase of drugs—for example ....

San Francisco , United States , Southwest Finland , Van Goor , Lopes Alves , Davey Smith , Nguengang Wakap , Finasteride Male Pattern Hair Loss Study Group , Finasteride Study Group , Precision Medicine Initiative All Of Us , Health Drug , Estonian Genome Center , American Heart Association , Collaborative Group , Human Services , Us Department Of Health , Disease Diagnosis In Health Care , University Of Tartu , Wellcome Trust Case Control Consortium , Africa Consortium , Development Study , Regeneron Genetics Center , European Medicines Agency , Genomics Beyond Health Government Office For Science , Drug Discov , Human Genome ,

How whole genome sequencing is revolutionising the rare disease patient experience

- PMLiVE ....

United Kingdom , Disease Diagnosis In Health Care , National Human Genome Research Institute , Newborn Genomes Programme , Human Genome Project , Kingdom Biobank , United Kingdom Biobank , Human Genome Research , Human Genome , Accessed May , Project Pilot , Rare Disease Diagnosis , Health Care , Accessed June , Whole Genome Sequencing , Newborn Genomes Programme Continuing , Genomics England , Published May ,