Interdisciplinary work sheds light on rare disease

Using an interdisciplinary approach, scientists have worked together to understand more closely the genetic factors of a rare disease affecting neutrophil granulocytes, a type of white blood cell.

Christoph Klein, co-author of a new study in Nature Genetics, sheds light on congenital neutropaenia and a defect in neutrophil function.¹

The study showcases a novel rare disease that is characterized by defective differentiation and function of neutrophil granulocytes as well as development defects. These types of diseases are the result of insufficient formulation of neutrophil granulocytes, a type of white blood cells, which help to fight against bacterial infections, says Klein.

His study is the first of its kind to scrutinize the role of SMARCD2 in the development of haematopoietic cells and provides a molecular mechanism of these stem cells — haematopoietic cells are the stem cells that give rise to all the other blood cells through a delicate and complex interplay between intrinsic genetics and environment. 

Haematopoietic stem cells lead to the formulation of neutrophil granulocytes. The study shows that without SMARCD2, blood stem cells are dysregulated and tend to transform. 

The scientists used zebrafish and mice as model studies to further understand the SMARCD2 gene and found that there is conservation through evolution in the role SMARCD2 plays in the differentiation of neutrophil granulocytes.  

This research is the start to further understanding of the role of SMARCD2 in the paucity of neutrophils. Further questions scientists would like to study include which genes/pathways are controlled by SMARCD2 and if SMARCD2 can be targeted for therapeutic benefits.

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