"Monogenic diseases" refers to diseases that are caused by a single gene mutation or disorder. These genetic disorders are usually inherited from parents and can lead to various health problems. Full definition
«There is a whole new landscape of monogenic diseases emerging and we have now translated our technology developments into improved clinical diagnostics, making a significant difference for affected children and their families.» (scilifelab.se)
Identification of new pathological biomarkers for monogenic diseases using a functional genomic approach. (istem.eu)
This EU document also has a bearing on the provision of molecular genetic diagnostics of rare monogenic diseases in Europe and beyond. (genomicmedicinealliance.org)