01:26pm Monday 01 June 2020

Researchers identify gene linked to bleeding disorder

If you are cut, platelets help stop the bleeding, and they are also intimately involved in the dangerous clots that cause heart attacks and strokes.

As part of an ongoing effort to better understand how platelets develop and function, researchers at The Hospital for Sick Children (SickKids), the University of Colorado and the University of Utah are investigating a rare hereditary condition called gray platelet syndrome (GPS).  GPS patients have bleeding problems because their platelets fail to develop normally. GPS platelets lack the ability to carry and release the wide range of molecules that are so densely packaged inside normal cells that they look dark on blood smears – their empty, pale appearance gives gray platelets their name.

In a study published in the July 17 advance online edition of Nature Genetics, the researchers report the culmination of a lengthy search for the genetic cause of GPS. After narrowing the target to a piece of chromosome 3, they used advanced techniques (next-generation RNA sequencing) to analyze gene expression in normal and GPS platelets and identified GPS-associated mutations in the NBEAL2 gene.  The physiological function of this gene was previously unknown, and linking it to platelet development opens up new research possibilities.

“We hope this discovery will aid in the diagnosis and prevention of GPS,” says lead author of the study Dr. Walter Kahr, SickKids Scientist and Haematologist and Associate Professor in the Department of Paediatrics and Biochemistry at the University of Toronto. “It also opens up new avenues of research into platelet biology which could potentially lead to the development of new treatments for preventing heart attacks and strokes.”

This study was funded by the Canadian Institutes of Health Research, National Institutes of Health, the American Heart Association and SickKids Foundation.   

About The Hospital for Sick Children
The Hospital for Sick Children (SickKids) is recognized as one of the world’s foremost paediatric health-care institutions and is Canada’s leading centre dedicated to advancing children’s health through the integration of patient care, research and education. Founded in 1875 and affiliated with the University of Toronto, SickKids is one of Canada’s most research-intensive hospitals and has generated discoveries that have helped children globally.  Its mission is to provide the best in complex and specialized family-centred care; pioneer scientific and clinical advancements; share expertise; foster an academic environment that nurtures health-care professionals; and champion an accessible, comprehensive and sustainable child health system. SickKids is proud of its vision for Healthier Children. A Better World. For more information, please visit www.sickkids.ca.

About SickKids Research & Learning Tower
SickKids Research & Learning Tower will bring together researchers from different scientific disciplines and a variety of clinical perspectives, to accelerate discoveries, new knowledge and their application to child health — a different concept from traditional research building designs.  TheTower will physically connect SickKids science, discovery and learning activities to its clinical operations.  Designed by award-winning architects Diamond + Schmitt Inc. and HDR Inc. with a goal to achieve LEED® Gold Certification for sustainable design, the Tower will create an architectural landmark as the eastern gateway to Toronto’s Discovery District.  SickKids Research & Learning Tower is funded by a grant from the Canada Foundation for Innovation and community support for the ongoing fundraising campaign. For more information, please visit www.buildsickkids.com.


For more information, please contact:

Suzanne Gold
The Hospital for Sick Children
416-813-7654, ext. 2059
[email protected]

Caitlin McNamee-Lamb
The Hospital for Sick Children
416-813-7654, ext. 1436
[email protected]

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