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Hal Dietz

Hal Dietz, M.D., Ph.D.

Hal Dietz of the Institute of Genetic Medicine on his research of the connective tissue disorders Marfan and Loeys-Dietz syndromes:

You were originally trained as a cardiologist. Why did you make the switch to research?

DIETZ: Johns Hopkins is a worldwide center of excellence for the care of people with Marfan syndrome. As a result, I was seeing a very large number of patients with the condition. I became frustrated with the fact that treatments that we were using didn’t make a difference in these people’s lives. So, I made the decision to leave clinical cardiology and go back for training in genetics with the specific goal of better understanding the cause of Marfan syndrome, the mechanism of problems within the tissues and hopefully then be able to derive new treatment strategies based upon that information.

You were responsible for characterizing a new connective tissue disorder with your then postdoc Bart Loeys, who has since moved on as a physician in Belgium. Can you discuss how you identified this new syndrome?

DIETZ: During the care of people with Marfan’s syndrome we recognized that there was a subset of people with some features of Marfan syndrome, but also other features that we did not expect. For example, some of these individuals had premature fusion of the skull, cleft palate, many had widely spaced eyes and also uvulas – the structure that hangs down in the back of the throat – that had two lobes rather than just one. More importantly, these people had much more widespread and aggressive vascular disease. They required individualized and more aggressive treatment protocols. We were able to define this as a new condition – a previously unrecognized condition now called Loeys-Dietz syndrome.

What are some of the current research projects you have going on in the lab?

DIETZ: Our prime focus in is inherited forms of vascular disease. We are testing many different treatment strategies for Marfan and Loeys-Dietz syndrome in mouse models. There is now a large multi-center clinical trial testing one of these strategies in people with Marfan syndrome. More recently we’ve developed mouse models of Loeys-Dietz syndrome where we’ve introduced mutations that we saw in people with the syndrome.

Seeing patients and also running a lab must be an intense workload. How do you keep yourself motivated?

DIETZ: In this respect intense is good. Patients remain my inspiration. Patients get me up in the morning, get me excited to get to work and keep me here late at night. My personal motivation is to improve the length and quality of life of affected individuals. Being able to put a name and a face and a story to each patient’s sample that I’m using, really drives me to do my best.