Rare Diseases

We have several research stage ZFN-mediated gene-modification programs in progress. These initiatives include programs in monogenic diseases including hemoglobinopathies such as sickle cell anemia and immune system disorders such as X-linked severe combined immunodeficiency (X-linked SCID).

Hemoglobinopathies

Mutations in the gene encoding the globin gene cause a variety of inherited conditions of the blood such as sickle cell disease and beta-thalassemia. Sangamo scientists have used ZFN-mediated gene correction in primary cells as an approach to correct such genetic lesions. With our collaborators we are developing these ZFNs for use in hematopoietic stem cells (HSCs) as potential therapeutics.

X-linked Severe Combined Immunodeficiency (X-linked SCID)

Mutations in the gene encoding the IL2Rγ protein invariably cause X-linked SCID (X-linked Severe Combined Immunodeficiency Disease) or so-called Bubble–boy disease. Patients with such mutations do not produce a functional IL2Rγ protein; never develop a functional immune system and die of severe infections within 12-18 months of birth. Sangamo scientists have used ZFN-mediated gene correction in model cells and primary cells to correct this genetic lesion. This research stage work was published in Nature magazine in April, 2005. With our collaborators we are developing these ZFNs for use in HSCs as a potential therapeutic.