Rare Monogenic Diseases: Molecular Mechanism and Novel Therapies
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".
Deadline for manuscript submissions: closed (15 September 2024) | Viewed by 6855
Special Issue Editors
Interests: clinical genetics; paediatrics, neonatology; rare diseases; monogenic diseases; chromosome disorders
Interests: clinical genetics; genetic counselling; inborn errors of metabolism; neonatology; paediatrics; neurological and psychiatric diseases; epigenetics
Special Issue Information
Dear Colleagues,
Over the past decades, the development of molecular biology and research into exploring the human genome has contributed to understanding the molecular mechanisms underlying the pathology in rare monogenic diseases. This has led to attempts to use therapies based on correcting or bypassing the molecular problem, including replacement therapies or gene therapy.
Gene therapy traces its origins to the early 1990s. Numerous clinical trials have been conducted in various disease entities, using different vectors and mechanisms to deliver the correct gene to target cells. However, the molecular basis of many diseases is not yet fully understood, and therapy attempts are limited to laboratory models and preclinical studies. There is a great need to supplement this knowledge and develop new therapies that can be successfully applied to humans.
For this Special Issue, we invite molecular and cell biology experts, medical and clinical geneticists, paediatricians, chemists and other professionals who carry out research in molecular mechanisms, cell biology, nanoparticles, vectors, gene delivery systems, genome editing systems, clinical trials and other aspects of novel therapies for rare monogenic diseases.
Dr. Paweł Zapolnik
Dr. Antoni Pyrkosz
Prof. Dr. Artur Mazur
Guest Editors
Manuscript Submission Information
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Keywords
- rare diseases
- monogenic diseases
- genetics
- molecular biology
- molecular pathways
- gene therapy
- gene delivery
- molecular medicine
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