Home > Haematology > ASH 2019 > Plenary Scientific Session > Gene editing in congenital neutropenia

Gene editing in congenital neutropenia

Presented By
Dr Shuquan Rao, Harvard Medical School, USA
ASH 2019
ELANE early exon targeting is a highly efficient universal therapy for ELANE mutant severe congenital neutropenia (SCN), feasible with existing gene editing technology [1]. Patients with SCN are characterised by a high risk of myelodysplastic syndrome and acute myeloid leukaemia. Germline mutation in the ELANE gene is the most common cause of SCN, and mutations are dominant in nature, preserving gene expression while altering the structure of the neutrophil elastase protein product, which results in altered protein folding and/or trafficking with excess cell death at the promyelocyte/myelocyte stage of maturation. Recent advances in gene editing technologies have enabled targeted genetic modification of haematopoietic stem cells. Dr Shuquan Rao (Harvard Medical School, USA) and colleagues postulated that the introduction of premature termination codons by nuclease-mediated frameshift mutations within early exons of ELANE c...

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