Genome-based therapeutic interventions for β-type hemoglobinopathies

Human Genomics

Fotios Kounelis¹  Maria Koromina²  George P. Patrinos³  Kariofyllis Karamperis⁴  Catia Moutinho⁵  Maria T. Tsoumpeli⁶  Christina Mitropoulou⁷ 

[1]Department of Computing, Group of Large-Scale Data & Systems, Imperial College London, London, UK

[2]Department of Pharmacy, School of Health Sciences, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras, Patras, Greece

[3]Department of Pharmacy, School of Health Sciences, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras, Patras, Greece

[4]College of Medicine and Health Sciences, Department of Pathology, United Arab Emirates University, Al-Ain, United Arab Emirates

[5]Zayed Center of Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates

[6]Department of Pharmacy, School of Health Sciences, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras, Patras, Greece

[7]The Golden Helix Foundation, London, UK

[8]Garvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Darlinghurst, Sydney, Australia

[9]School of Veterinary Medicine and Science, University of Nottingham, Nottingham, UK

[10]The Golden Helix Foundation, London, UK

关键词: β-thalassemia;    Sickle cell disease;    Pharmacogenomics;    Gene addition;    Genome editing technologies;    Gene therapy;    Viral and non-viral vectors;   

DOI  :  10.1186/s40246-021-00329-0

来源: Springer

【 摘 要 】

For decades, various strategies have been proposed to solve the enigma of hemoglobinopathies, especially severe cases. However, most of them seem to be lagging in terms of effectiveness and safety. So far, the most prevalent and promising treatment options for patients with β-types hemoglobinopathies, among others, predominantly include drug treatment and gene therapy. Despite the significant improvements of such interventions to the patient’s quality of life, a variable response has been demonstrated among different groups of patients and populations. This is essentially due to the complexity of the disease and other genetic factors. In recent years, a more in-depth understanding of the molecular basis of the β-type hemoglobinopathies has led to significant upgrades to the current technologies, as well as the addition of new ones attempting to elucidate these barriers. Therefore, the purpose of this article is to shed light on pharmacogenomics, gene addition, and genome editing technologies, and consequently, their potential use as direct and indirect genome-based interventions, in different strategies, referring to drug and gene therapy. Furthermore, all the latest progress, updates, and scientific achievements for patients with β-type hemoglobinopathies will be described in detail.

【 授权许可】

CC BY