Researcher profile: Dr Marcia Munoz

What motivated you to host the auto-inflammatory diseases workshop last June?

Professor Mike Rogers, who heads the lab I work in, has had this idea brewing for a while.

Years ago, he discovered that the mevalonate pathway is the target of a very important class of drugs, bisphosphonates, used by millions of people around the world to treat bone diseases including osteoporosis and bone metastases. This pathway is damaged in a rare autoinflammatory disease called Mevalonate Kinase Deficiency (MKD), and so he became interested in this condition as a means to better understand the consequences of targeting this pathway in the body. Like other autoinflammatory disorders, very little is known about MKD, for example, what triggers the inflammatory flares, and why patients respond differently to treatment. We thought that a conference would be a great way to connect doctors, patients and scientists to share the latest advances in this field and, importantly, to give patients the opportunity to meet directly with world expert clinicians and scientists.

How does meeting patients and families influence your work as a researcher?

It gives our research real meaning. We don’t often get to hear what patients and doctors have to say, what they need and what issues affect them. Securing funding is so challenging these days that sometimes it’s tempting to work on a more “common”, more “socially relevant” disease. But when you meet the patients, their families and doctors, you know that they deserve better treatments for their disease, whether it’s common or not.

This is a very debilitating childhood disease that has lifelong impacts and we think we can find a way to overcome it. Additionally, and very importantly, rare diseases are the key to understanding fundamental processes that also occur in more common conditions. For instance, studying MKD helps us understand why defects in the mevalonate pathway cause inflammation. Inflammation is believed to be a significant component of aging and chronic diseases such as diabetes, cardiovascular disease, bowel disorders and cancer.