Uk Medical Student Mary Burchett's Research is Personal

Mary Burchett: Marfan syndrome is called a syndrome because there are a lot of different physical things that occur together that people have recognized as a pattern. Some of those things include very tall, thin body habitious. Sometimes you can see people they have a characteristic structure to their face. Sometimes they will have a longer face and more narrow face. Flat cheek bones. I was diagnosed when I was five but the diagnosis was very hard for me to get. So my parents were determined to know whether I had Marfan syndrome or not. So they took me to multiple specialists throughout Kentucky and everyone said "no Mary is fine." One specialist said "Mary looks too normal to have Marfan syndrome." My dad kept noticing that all the literature that was being written was coming from Johns Hopkins. So before they agreed to any surgical procedures, they took me to Johns Hopkins so they would know for sure whether or not I had Marfan syndrome. When I went there I saw a geneticist and he said to my parents, "There is no doubt in my mind that Mary has Marfan syndrome." I had a really amazing doctor at Johns Hopkins and her name was Claire Frankamonto. And I just remember feeling so comfortable with her and I admired her. I remember driving home with my mom after one of my appointments and I said to her, I want to do what Claire does". I didn’t understand why I had to go all the way to Johns Hopkins to see my doctors. Because I had to leave all my family and my friends when I had my surgery there I was in Baltimore for a month. My goal when I was little, I said "I want to be a geneticist like Claire but I want to do it in Kentucky." Everything lined up for me when I was an incoming freshman and they had just started a new program called the Professional Student Mentor Research Fellowship. And I applied for that program and I was awarded a research stipend to work with a principal investigator here at UK. And so I was excited about the opportunity and I knew I was interested in Marfan syndrome, but I didn't know anyone who was doing research in that field. So I started talking to people and talking to people and they recommended me to Dr. Estus. And Dr. Estus was doing a lot of molecular techniques in his laboratory, and he just found out about my passion for Marfan syndrome and said "okay, well let's see what we can find out." So his idea was to look at splicing and the gene that is known to have mutations that cause Marfan syndrome. So that's what we did. We went through and what we did is what we call a scand, which is we looked at all the different exons in the gene in the fibrillin to look for different exons that were cryptically spliced. And in the end we did find two cryptically spliced exons, one that had never been recognized, even knew that it existed, one that was in the literature but had never been published. It was really amazing. I just started talking to all these different professors and learning about their jobs, and one of the professors I talked to was Dr. Daugherty, who is the dean of (medical) research here at UK. And when I went in, he asked me about my research and I told him I was passionate and interested in Marfan syndrome. Well he walked over to his desk and he lifted up a pamphlet which was an application for the National Marfan Foundation McKusick Research Award, which is the biggest research grant that the National Marfan Foundation has. Dr. Alan Daugherty: So we had a conversation that you know, as a physician what it's like to be in research or what you have to do, and she asked me about what research we were doing, and we just stumbled into this area of Marfan's literally months before that. So we had a half hour meeting that went for an hour and a half because we covered a whole range of topics. Mary Burchett: I just thought "what are the odds?" You know that, this is my interest and he's interested in it, too. Dr. Alan Daugherty: Probably my biggest education has been with talking to Mary and spending quite a bit of time with her. And then we discussed the symposium we went to where this is not just a scientific symposium but is also advocacy groups and individuals with Marfan's involved in this group. So I'd say in the last year or so I've come involved with this group a lot more. The National Marfan Foundation is a very involved group of individuals that's relatively small, but once a year they offer this Victor Macusic Fellowship. Victor McKusick was a Hopkins physician who is considered to be the father of genetic human disease research, so they've named one fellowship after him. We had an MD Ph.D. from China that works in my lab, who before she came to my lab had published on thoracic aneurisms in China. And so it was just sort of a combination of us having this model, her having this background, and we applied for this fellowship and she got a two year fellowship funded by the National Marfan Foundation. Mary Burchett: So there are still a lot of people who have Marfan syndrome and don't know it. I was really lucky because my dad was a doctor, and he could read the literature and he had the means to take me out of the state and try to get advice from experts. So I do hope to help change that. I've always loved Kentucky. I had a great experience at college when I went to Centre, and when I wanted to go to medical school, I wanted to stay here. I wanted to be close to my family, and I knew that I had every opportunity to do things here as I would anywhere else. But I have absolutely no intention of practicing anywhere other than Kentucky, this is my home and I know this is where patients need good doctors.