Rare Diseases

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


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

Lysosomal Storage Disorders

Lysosomal storage disorders are rare inherited metabolic disorders caused by malfunction of the lysosome, an organelle in cells that is required for breakdown and turnover of proteins and lipids. This dysfunction is usually a consequence of a single mutation in  genes encoding  specific lysosomal enzymes  required for the metabolism of lipids, glycoproteins (sugar containing proteins) or  mucopolysaccharides. Lysosomal storage diseases include disorders such as Gaucher disease, Fabry disease and Pompe disease.