Reprint
Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies
Edited by
April 2023
250 pages
- ISBN 978-3-0365-7461-5 (Hardback)
- ISBN 978-3-0365-7460-8 (PDF)
This is a Reprint of the Special Issue Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies that was published in
Biology & Life Sciences
Summary
The reprint, “Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies”, provides a collection of original research articles and systematic reviews focused on diverse conditions stemming from a pathogenic single gene mutation. The articles are focused on the molecular mechanisms that are affected within a rare monogenic disorder, such as those involving gene expression, molecular pathways and cell death. Moreover, specific experimental therapies including drug discovery, drug repositioning, gene therapy and protein-based therapeutics are discussed.