Alan Nurden: How Genotype and Phenotype Can Vary in von Willebrand Disease
Alan Nurden, Emeritus Research Director at CNRS, Co-Founder of the French National Reference Centre for Inherited Platelet Disorders (CRPP), shared a post on LinkedIn about a recent article by Omid Seidizadeh et al, published in Communications Medicine, adding:
“A truly magnificent manuscript that explains how genotype and phenotype may vary in von Willebrand disease. This is exactly what was needed and it has been done well.
Now, can someone please now do this for the platelet-based bleeding disorder, Glanzmann thrombasthenia.
More difficult because two genes are involved (ITGA2B and ITGB3) but virtually nothing is known about how variants of other genes influence the expression and functioning of the αIIbβ3 integrin.”
Title: Genetic determinants of low von Willebrand factor from whole exome sequencing
Authors: Omid Seidizadeh, Andrea Cairo, Luciano Baronciani, Alessandro Ciavarella, Paola Colpani, Cristina Novembrino, Federico Boggio, Francesco Ballardini, Pasquale Agosti, Maria Teresa Pagliari, Simona Maria Siboni, Luca Valenti, Flora Peyvandi
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