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Spotlighting Rare Diseases Research Blog

A Multidisciplinary Approach to Investigating Severe Congenital Neutropenia

Friday, October 04, 2019

For several years, my research team (the Munson lab) had studied the biochemical and cellular mechanisms of the regulatory protein VPS45, a critical regulator of membrane trafficking. When it was found that patients who had mutations in VPS45 developed severe congenital neutropenia, we were very intrigued and curious to understand the basis for this disease. However, as we were not experts in the neutropenia area, we sought out Dr. Peter Newburger, an established investigator of neutrophil biology and neutropenia, to collaborate with us. Essentially, this project has benefitted from a close collaboration between the labs of a hematology physician-scientist (Dr. Newburger) and a basic science researcher in biochemistry and cell biology (Dr. Munson). We really enjoy working together to solve this complicated problem.

In our collaborative effort to further understand severe congenital neutropenia, we needed to look more carefully at mutant phenotypes at multiple levels, including at the biochemical and cell biological levels, as well as in mammals. As patients with severe congenital neutropenia are quite ill (and all have eventually died if not treated with bone marrow transplant), we decided to model the patient phenotype in mice. These mice represent the first model of neutropenia caused by mutations in a membrane trafficking regulator. Insights gained from these studies will inform research not only on severe congenital neutropenia, but also on many related rare diseases and the patients affected by them.

The Future of Research on Severe Congenital Neutropenia

The Munson and Newburger Labs will continue to elucidate the underlying mechanisms of severe congenital neutropenia and to understand whether there are any aspects of the disease that are conducive to therapeutic intervention.  Our studies will also help inform potential future gene therapy approaches for patients with the disease.

Patients should feel empowered to learn more about their disease and any treatments that may be emerging in the future. We recommend reading about the disease and contacting researchers to ask questions and engage them in discussions about prognosis and treatment. Ultimately, patient engagement facilitates research and can help scientists learn more about the disease and its potential outcomes.

Donors can also make an enormous difference in the progress of a research project and in future discoveries and therapeutics. Current funding levels are often insufficient to fund the quality of research that scientists need to push experiments forward. Sometimes all it takes is enough funding to hire a graduate student or postdoctoral fellow, who may make incredible research advances.

This is an amazing time to be doing scientific research, with the development of cutting-edge methods and ideas for solving difficult problems. We love to travel and meet scientists all over the world, as the diversity of cultures and ideas astounds us and propels our research forward. Our research on severe congenital neutropenia is inspired by our motivation to understand the underlying mechanisms of cell biology and disease and to train the next generation of fabulous scientists.

About Mary Munson and Peter E. Newburger

Mary Munson, PhD, is a professor of biochemistry and molecular pharmacology at the University of Massachusetts Medical School. Dr. Munson earned a PhD from Yale University and received postdoctoral training at Princeton University, where she was awarded fellowships from the American Heart Association and the National Institutes of Health.

Peter E. Newburger, MD, is a professor of pediatrics at the University of Massachusetts Medical School. Dr. Newburger earned an MD from Harvard Medical School and completed fellowships at Boston Children's Hospital and Dana-Farber Cancer Institute. He is board certified in pediatric hematology/oncology and general pediatrics.