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  • What is Severe Congenital Neutropenia?

    What is Severe Congenital Neutropenia?

    Severe congenital neutropenia (SCN) is a rare blood disorder caused by mutations in one of many different genes that play roles in the maturation and function of neutrophils, a type of white blood cell that fights bacterial infections. Patients with SCN have a neutrophil deficiency at birth, leading to recurrent life-threatening infections.

 

Research Strategies

Identifying the genetic causes of SCN can inform approaches to medical treatment. In a collaborative effort, the labs of Drs. Munson and Newburger investigate novel genetic defects associated with SCN, such as a deficiency in the gene VPS45. This gene encodes a protein involved in critical cellular processes that allow molecules in a cell to be appropriately transported, sorted, or released, including molecules released by immune cells.


The research teams of Drs. Munson and Newburger use a variety of techniques — including structural biology, biochemistry, and cellular biology techniques — to better understand the human VPS45 gene and how dysfunctional mutations in VPS45 can lead to SCN in children. They are also developing mouse models of the disease, using genome editing technologies. The ultimate goal of these studies is to gain insights into a possible gene therapy treatment for the disease.

Severe Congenital Neutropenia

Neutropenia in the age of genetic testing: Advances and challenges

Authors: Furutani E, Newburger PE, and Shimamura A


Published in 2019 in American Journal of Hematology


This article reviews the rapidly expanding genetic testing options for the evaluation of neutropenia and discusses how these options have led to exciting advances but also new challenges.

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Severe Chronic Neutropenia Investigators

Mary Munson, PhD

Mary Munson, PhD

Professor of Biochemistry & Molecular Pharmacology

Munson Lab

Peter E. Newburger, MD

Peter E. Newburger, MD

Professor of Pediatrics

Newburger Lab

Clinical Trials

At the Li Weibo Institute for Rare Diseases Research, our researchers and clinicians are dedicated to finding new treatment options for patients. Our clinical trials program is another way we continue to advance treatments and make new discoveries. If you or someone you know may be interested in a clinical trial, please subscribe for updates and you will be notified when we open up a new trial.

Optimizing Genome Editing Technologies for Therapeutic Application

By Scot A. Wolfe, PhD

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The research in my laboratory is focused on improving genome editing technologies so that they can be applied to the development of therapeutics. Inspired by the opportunity to improve the lives of patients with debilitating disorders, my lifelong goal as a scientist is to translate genome editing technologies to the development of therapeutics for a variety of diseases, both common and rare.

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A Potential Therapeutic Approach to CDKL5 Deficiency and Rett Syndrome

By Michael R. Green, MD, PhD

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Several years ago, we began investigating the mechanism by which genes are turned off on the X chromosome — a process termed X chromosome inactivation (XCI). In females, XCI is a naturally occurring phenomenon in which one of the X chromosomes is randomly turned off, or silenced, as a way to equalize the dosage of the X chromosome between females (who have two X chromosomes) and males (who have one).

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