He also showed that the HFE gene knockout in the mouse produces iron storage resembling human hemochromatosis.ĭr. Sly has also done research on hereditary hemochromatosis, collaborating on studies leading to the cloning of the HFE gene and identification of the product it encodes. With collaborators, he identified other human diseases attributed to mutations in the genes encoding CA IV, CA VA, and CA XII. His laboratory has since characterized many other carbonic anhydrases and produced mouse models of several CA deficiencies. Sly also identified the first inherited deficiency of a human carbonic anhydrase, CA II, and defined the biochemical and molecular genetics of this disorder. The drug, Mepsevii, was approved by the FDA that same year. He collaborated with the biotechnology company Ultragenyx to develop enzyme replacement for MPS VII (Sly Syndrome), which went into clinical trials in 2017. These discoveries led to his election to the National Academy of Sciences in 1989. He headed studies that identified the mannose-6 phosphate and mannose receptors that target enzymes to lysosomes, which provided the rationale for enzyme replacement therapy in Gaucher’s disease and other lysosomal storage diseases. His group described the first patient with MPS VII (Sly syndrome) and worked with collaborators at The Jackson Laboratory to develop and characterize the mouse model of this disease. Sly has made important contributions to several research areas. Raven Lifetime Achievement Awardīurlington Northern Foundation Faculty Achievement Awardĭr.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. Archives
May 2023
Categories |