Hi, my name is Amanda Ombrello.
My name is Michael Ombrello. Amanda Ombrello:
And we are sitting in my husband’s office at the NIH Clinical Center. Michael Ombrello:
And we’re lucky enough to work at this great place, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, and do biomedical research. Well, so it began back in 1999 at St. Louis University School of Medicine. I was a second-year medical student and Mandy was a first-year medical student, and in a real — a very cliché way, we rounded a blind corner and we ran into each other, and we both had things in our hands and all of our papers flew up in the air and got mixed with each other on the floor. Amanda Ombrello:
One of my less stellar cool moments in my life right there, but it turned out okay. [laughs]
And over the course of the next couple of months we started to date and about five years thereafter we wound up married. Being one year apart from each other in school, at each of the branching points for how we would train, it was easy for us to decide to stay at St. Louis University for me and then for Mandy so we could stay together. I was always a nerd. I have to admit I was always a nerd, and I loved math and science. When I was in fifth grade, I remember I had a project in my science class on the brain, and I remember I had my mom go to the butcher shop to get a cow’s brain that I proceeded to dissect in front of my class. Right along that time, my sister developed a severe rheumatic disease, and that actually contributed some desire from me to become a pediatric rheumatologist. Amanda Ombrello:
I always had a fondness for math and science when I was younger And going into college, I had already identified that I thought a medical career would be right up my alley, working with people, attempting to treat them and make them feel better. Michael Ombrello:
I was exposed to another research project and it relit the flame. It reminded me of the love that I had had for research. I started to chase around — he’s named Dan Kastner. And I just knew that he had discovered the genes that cause some of the diseases that we had an interest in. And I walked up to him cold and said, “Hi, Dan Kastner. I’m Mike Ombrello, and I wonder if you’d be interested in having someone like me come to learn to do research with you.” I mentioned Amanda to him as well. And when he heard that she was duly trained in adult and pediatric rheumatology and had an interest in these kinds of
inflammatory diseases, his eyes perked up, because he said he’d been looking for years for someone who could work in his group with him, and it was like the stars had aligned. You know, suddenly we had both found jobs doing exactly what we wanted to do. We decided that if we really wanted to pursue this career, that the time was now, and come out here to the East Coast to take the chance doing research. Amanda Ombrello:
As far as I know, he hasn’t had genetic testing yet. Amanda Ombrello:
Okay, yeah, all right. Well, we’ll need to do that. I act as an attending in our clinic, so there will be other physicians who will see patients. They will have one of these auto-inflammatory diseases. Doctors will present to me. Conducting some very specialized studies. Female Speaker:
So she was reporting pain in her ankle.
And did she have any skin lesion overlying that? Female Speaker:
No, there’s no known skin abnormalities, just tenderness. Amanda Ombrello.
And no known injury ahead of time?
Just a lot of walking when she traveled abroad. Amanda Ombrello:
Okay, very good. Have they had some abnormal labs with this? Female Speaker:
So, the patient’s [inaudible] were elevated. The [inaudible] were quite high, like in the hundreds. Amanda Ombrello:
Missing a lot of school.
About 45 days a year. Amanda Ombrello:
Genetic analysis, looking for potential mutations, that’s where I might run into Michael. Hey, Mike.
Hey, Mandy. Amanda Ombrello:
I have a sample for you.
Here you go. Michael Ombrello: Thank you.
Amanda Ombrello: This is from our new patient.
Michael Ombrello: So I’m guessing it will probably take us about a month to take care of this, but I’ll have some results for you then. Amanda Ombrello: Sure. They’re going to be here for the next couple of days, so just let me know, okay?
Michael Ombrello: Great.
Amanda Ombrello: Lunch today? Michael Ombrello:
Sounds good. My office. Love you.
All right. Love you.
On a usual day I’ll spend a little time at the bench. I’ll spend more time talking to the people that work for me at the bench. Hi, guys. How’s it going? Female Speaker:
Talking about their experiments and planning their next experiments.
What have you been working on?
On the T-Cell [inaudible].
Excellent. I’m getting ready to [inaudible]. Male Speaker:
I’m interpreting their results — great. Let’s take a look at them — to keep up on the literature and the discoveries that other people are making so we can try to employ those in the things that we’re doing. Michael Ombrello:
In the end, if you make a bunch of interesting discoveries but you can’t communicate them to other people, then the work you’ve done is lost. At the same time, it’s also important to have a life outside of science. Within a week of me arriving at the NIH, we found out that Amanda was pregnant with our first child, with Olivia. We’ve subsequently had two more kids, and it’s quite possible to have a successful career in science and at the same time have a family life that’s very rewarding. Amanda Ombrello:
We are both trained and board-certified in four areas: internal medicine, pediatrics, adult rheumatology and pediatric rheumatology. Sixty percent of the patients that I see, we have no known diagnosis for at this time. They have diseases known as autoinflammatory disease, meaning that their bodies tend to develop inflammation without any known causes. They can also have arthritis or skin rashes. A child who had missed 50 to 70 days of school in a school year and has never been able to play sports. A lot of the patients will have fevers. They’ll get them spontaneously and recurrent over the course of their lives. Female Speaker:
So it’s about four to six weeks, and they last about two to three days, T max of like 105, 106.
Okay. And at what age did they start? Female Speaker:
Early, so pretty much at birth. Amanda Ombrello:
Try to think of novel ways that we might be able to approach treating them to help control their inflammatory disease, and then we’ll get a separate blood sample that we turn over to the lab for some very specialized where we will look at their genes — there you are — genetic mutation that might be causing their inflammatory systems to be stimulated at times when it shouldn’t be. We’ve been successful over the past few years characterizing quite a few new diseases, and now we’re working on trying to find new treatments for these newly described diseases, and navigate that path with these families. They come here hanging on by a string that perhaps we’ll be able to help them.
And the fact that we don’t understand their diseases and we don’t have good treatments made me want to go to the lab and use genetic techniques to try to find out what it is that’s causing their disease. Because once we know what causes their disease, we can actually then try to target therapies against those specific things, be able to teach them about the problem and try to help them to find a way to make their kids better, and then getting to see the kids get better. Amanda Ombrello:
It’s funny. You’ll get a call saying, “They’ve become a lot more argumentative. And then we — it comes full circle to, “Well, I guess they’re just feeling that much better now that they know how to be a normal kid.”
We know there’s still a lot to learn. In 15 years from now, the research that we’re doing will have better identified pathways of the immune system that we don’t understand today for individual patients, what the mutations or genes that are causing their diseases are and we’ll be able to reach to the armamentarium, and people like Mandy will be able to offer them specific treatments that will treat exactly the kind of disease that they have. Amanda Ombrello:
Also, you know, keeping in mind that it is important to have hobbies things that you enjoy that aren’t going to be necessarily related to the research you’re doing, to try to balance you out, because as it is so competitive in the field of research, people can lose themselves if they don’t find or make the time to
get away. Are we perfect? No. Do we live in chaos? Yes. Michael Ombrello:
But at the same time, it’s beautiful and happy chaos.