Heghine Khachatryan on a Milestone for Platelet Disorders: CRISPR Assays Transform Variant Classification
Heghine Khachatryan, Editor-in-Chief of Hemostasis Today, Head of Hemophilia and Thrombosis Center at Yeolyan Hematology and Oncology Center, reposted Jesse Rowley’s article on LinkedIn:
“Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes is a real milestone for inherited platelet disorders.
For clinicians managing patients with Glanzmann thrombasthenia and other platelet function defects, this type of functional assay can finally help us move from “variant of uncertain significance” to mechanistic understanding in a human megakaryocyte model.
The obvious next dream is to translate these elegant tools into safe and effective gene-therapy strategies for our patients. I’m excited to follow how this work will shape future diagnostics and treatments.”
Quoting Jesse Rowley’s post:
“Title: Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes
Authors: Yasuhiro Kosaka, Brandon Lopez, Nina Kishimoto, Shancy Jacob, Emilie Montenont, Rodrigo Huallanca, Graeson Coughenour, Jorge Di Paola, Justyne Ross, Kristy Lee, Matthew T. Rondina, Paul F. Bray, Jesse W. Rowley
Read full article here.”
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