scholarly journals Next-Generation Therapeutics: mRNA as a Novel Therapeutic Option for Single-Gene Disorders

10.5772/62243 ◽  
2016 ◽  
Author(s):  
Tatjana Michel ◽  
Hans-Peter Wendel ◽  
Stefanie Krajewski
Keyword(s):  
Therapeutic Option ◽  
Single Gene ◽  
Next Generation ◽  
Single Gene Disorders ◽  
Novel Therapeutic

Synaptic Plasticity as a Therapeutic Target in the Treatment of Autism-related Single-gene Disorders

2013 ◽  
Vol 19 (36) ◽  
pp. 6480-6490 ◽  
Author(s):  
Marco Pignatelli ◽  
Marco Feligioni ◽  
Sonia Piccinin ◽  
Gemma Molinaro ◽  
Ferdinando Nicoletti ◽  
...  
Keyword(s):  
Synaptic Plasticity ◽  
Therapeutic Target ◽  
Single Gene ◽  
Single Gene Disorders

Copper-impregnated socks: A novel therapeutic option for combating occupational dermatophytosis

2021 ◽  
Author(s):  
Sukriti Baveja ◽  
Chetan C. Patil ◽  
Surbhi Vashisht ◽  
Deepak Vashisht ◽  
Vikas Pathania ◽  
...  
Keyword(s):  
Therapeutic Option ◽  
Novel Therapeutic

Pathophysiology and therapy for haemoglobinopathies; Part II: thalassaemias

2006 ◽  
Vol 8 (10) ◽  
pp. 1-26 ◽  
Author(s):  
Fabrizia Urbinati ◽  
Catherine Madigan ◽  
Punam Malik
Keyword(s):  
Single Gene ◽  
Globin Gene ◽  
Marrow Transplant ◽  
World Population ◽  
Symptomatic Therapy ◽  
Globin Genes ◽  
Cell Disease ◽  
Critical Function ◽  
Single Gene Disorders ◽  
Clinical Syndromes

Thalassaemias result from mutations of the globin genes that cause reduced or absent haemoglobin production and thus interfere with the critical function of oxygen delivery. They represent the most common single-gene disorders, with 4.83% of the world population carrying globin gene variants. Reduced or absent α-globin (α-thalassaemia) or β-globin (β-thalassaemia) leads to anaemia and multifaceted clinical syndromes. In this second of two reviews on the pathophysiology of haemoglobinopathies, we describe the clinical features, pathophysiology and molecular basis of α- and β-thalassaemias. We then discuss current targeted therapies, including the new oral iron chelators, which, along with chronic transfusions, constitute the mainstay of symptomatic therapy for the majority of patients. Finally, we describe potentially curative therapies, such as bone marrow transplant, and discuss some of the outstanding research studies and questions, including the upcoming field of gene therapy for β-thalassaemia. An accompanying article on haemoglobinopathies (Part I) focuses on sickle cell disease.

Sign in / Sign up

Export Citation Format

Share Document