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Spotlighting Rare Diseases Research Blog

A Multidisciplinary Approach to Investigating Severe Congenital Neutropenia

Posted On: Oct 4, 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....

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