Cedric Ghevaert: How RNA Processing Defects Affect Megakaryocytes in TAR Syndrome
Cedric Ghevaert, Professor in Transfusion Medicine at University of Cambridge, Chief Scientific Adviser at New Platelet Company, shared a post on LinkedIn about a recent article he and his colleagues co-authored, published in Blood Vessels, Thrombosis and Hemostasis, adding:
“We uncovered the genetic basis of TAR syndrome (Thrombocytopenia with Absent Radio) over 12 years ago.
This quickly led to the adoption of DNA testing and genetic counselling in clinical practice.
However, the mechanistic understanding of how a defect in an RNA handling protein targets specifically the megakaryocytes and their platelet progeny has remained elusive.
This paper recently published by the group of Paul Gadue and Deborah French at the Children’s Hospital in Philadelphia paves the way for the basic science to catch up with the clinic.
The beauty of science: the story is never quite finished!”
Title: An iPSC model of thrombocytopenia-absent radius syndrome links aberrant splicing to impaired megakaryopoiesis
Authors: Catriana C. Nations, Jenea I. Adams, Nicole Debruyne, Xiuli Sim, Hyun Sook Ahn, C. J. Willett, James Warland, Cedric Ghevaert, Kathleen Freson, Giulia Pavani, Deborah L. French, Mortimer Poncz, Yi Xing, Lan Lin, Paul J. Gadue
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