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Yale Researchers Crack the Code of a Rare, Inherited Anemia

Yale pediatrician and geneticist Patrick Gallagher, M.D., studies hereditary spherocytosis (HS), an inherited disease associated with hemolytic anemia, when red blood cells are destroyed faster than they are produced due to abnormal membranes. A novel mutation in the gene that encodes alpha-spectrin, a protein essential for normal red blood cell membranes, is responsible for many cases of recessive hereditary spherocytosis (rHS), the most severe form of the disease, reports Gallagher’s team

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  • Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis

    Various mechanisms of PIEZO1 dysfunction lead to the phenotype of hereditary xerocytosis (HX) including altered membrane protein trafficking. The image shows intracellular retention of HX-associated mutant R2088G PIEZO1 protein in the endoplasmic reticulum (yellow). Work from the Gallagher laboratory was featured on the cover of the October 19, 2017 issue of BLOOD.

    Source: BLOOD
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