A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal healthy sequence.
Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes).
Thalassemia refers to a group of hereditary blood diseases that may be life-threatening. β-thalassemia is caused by defects of the β-globin gene, most of which are point mutations, with some being gene deletions. Patients with severe β-thalassemia are desperate for better treatments.
Current treatments and challenges:
- Regular blood transfusion and iron removal treatment: lifelong blood transfusion, most of the patients being with severe iron overload, usually with short survival time
- Allogeneic hematopoietic stem cell transplantation: difficult to match, high risk of immune rejection
Mucopolysaccharidosis Type I
Mucopolysaccharidosis refers to a rare and potentially fatal lysosomal storage disorder that can affect organs and tissue throughout the body. The autosomal recessive genetic disorder is due to deficiency of the lysosomal enzyme a-L-Iduronidase (IDUA), leading to the accumulation of the glycosaminoglycans (GAGs), dermatan and heparan sulfate throughout the body.
Currently, there is no cure for mucopolysaccharidosis. Main treatments include symptomatic treatment to improve the patient’s quality of life, enzyme replacement therapy and bone marrow transplantation/hematopoietic stem cell transplantation. The current therapies are too expensive and the application is inefficient and difficult.
We are currently focusing on developing treatments for Hurler syndrome, the most severe subtype of mucopolysaccharidosis type I.