Molecular Studies of Monogenic Diseases: Diagnostics, Mechanisms and Therapeutics

Dear Colleagues,

The concept of Mendelian inheritance originated almost two centuries ago, and it still drives the identification of human genetic disorders today. The recessive or dominant mutations in a single gene designate a monogenic disease, typically stemming from a molecular alteration in the functions, regulations, or physical interactions of the protein encoded by the affected gene. Starting in the 1980s, the molecular studies of monogenic diseases have led to the discovery of about 5000 causative genes. This provides an unparalleled basis for future understanding of the molecular mechanisms underlying each disorder and translation into specific therapeutics. In addition, the spectrum of genotype–phenotype relationships is constantly growing. Molecular techniques for genetic diagnosis continue to evolve to allow for the correct identification of rare and common monogenic disorders. We are constantly faced with the need to identify new disease-causing genes, novel pathogenic mutations in a known causative gene, and undisclosed mechanisms that explain molecular pathogenesis. Finally, by understanding the full underlying biology of a given monogenic disease, we have a great opportunity for the rational development of novel therapies that are vital to many patients currently unable to receive effective treatment.

This Special Issue, entitled “Molecular Studies of Monogenic Diseases: Diagnostics, Mechanisms and Therapeutics”, aims to collect interdisciplinary knowledge from relevant studies in molecular genetics, molecular biology, biochemistry, and molecular medicine. Original research articles and systematic reviews are welcome to be submitted.

Dr. Ivano Condò
Guest Editor

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