Award Winners at the Fifth Edition of the Martín Villar Research Awards
Grifols is a company which is committed to encouraging scientific investigation; one of the ways does this is through the Martín Villar Awards for research into haemostasis.
At the fifth edition of the awards the panel of judges, made up of specialists in this field, decided to make awards to the following researchers and publications:
The publication "A zymogen-like factor Xa variant corrects the coagulation defect in hemophilia." from Lacramioara Ivanciu, Raffaella Toso, Paris Margaritis, Giulia Pavani, Haein Kim, Alexander Schlachterman, Jian-Hua Liu, Valerie Clerin, Debra D Pittman, Rosalind Rose-Miranda, Kathleen M Shields, David V Erbe, James F Tobin, Valder R Arruda & Rodney M Camire.
This publication can be considered a proof of concept for a new class of bypassing agents. The authors develop an innovative protein engineering strategy, employing rational mutagenesis to modulate FXa function. The experimental results published indicate that the zymogen-like FXa variant corrects the coagulation defect in hemophilic mice.
The publication "Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA." by Nancy B. Y. Tsui, Rezan A. Kadir, K. C. Allen Chan, Claudia Chi, Gillian Mellars, Edward G. Tuddenham, Tak Y. Leung, Tze K. Lau, Rossa W. K. Chiu, and Y. M. Dennis Lo.
The authors have developed a non-invasive prenatal diagnostic of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. This test is used in women carrying specific gene mutations and pregnant with male fetuses. This methodology, using relative mutation dosage approach strategy, is able to determine whether the fetus has inherited a causative mutation for hemophilia from its mother.
The publication "In vivo genome editing restores haemostasis in a mouse model of haemophilia." by Hojun Li, Virginia Haurigot, Yannick Doyon, Tianjian Li, Sunnie Y.Wong, Anand S. Bhagwat, Nirav Malani, Xavier M.Anguela,Rajiv Sharma, Lacramiora Ivanciu, Samuel L.Murphy, Jonathan D. Finn, Fayaz R. Khazi, Shangzhen Zhou, David E. Paschon, Edward J. Rebar, Frederic D. Bushman, Philip D. Gregory, Michael C. Holmes & Katherine A. High.
The authors describe a reverse genetic method with engineered zinc finger nucleases that cut and create double-stranded breaks at desired gene locations in a mouse model of hemophilia A. The levels of gene targeting proved to be sufficient to persistenly correct the bleeding disorder in the hemophilic mice.