Discussions

Research into the field of molecular and genetic mechanisms under Mendelian conditions and the achievements made have demonstrated that mutations cluster in individual genomes and can cause human disease in a range of allelic patterns, including single allele (dominant), double alleles (recessive), triple alleles, multiple alleles and more complex patterns of inheritance. Monogenic genetic disorders are only a part of various rare diseases and many more complex rare polygenic genetic diseases have not been fully understood. For these diseases, testing at the genomic level is certainly a promising option.

Over the past two decades, the development of a variety of genetic and genomic technologies, such as karyotyping, chromosomal microarray analysis (CMA), whole genome sequencing (WGS,) and whole exome sequencing (WES) have enabled the rare disease research field to charge toward disease locus and gene discovery. Scientists have obtained a wealth of data concerning phenotypes with established molecular aetiology and a phenotype-causing variant. The remarkable progress made in the field of disease gene identification has provided valuable insights into human disease and health.

Source: https://www.protheragen.us/identification-of-human-rare-disease-genes.html