Jackson Labs blog: "Scientist Spotlight: Peter Robinson, M.D., M.S."

Andy · Mar 29, 2018

Hi Peter! Thanks for meeting with me and answering some questions. So, you’re an MD, but you’re currently doing research. Can you tell me a little about your background and how you ended up at JAX?

Hey, Courtney! So, when I was in college, I studied Mathematics and Computer Science. I was actually accepted into a couple of PhD programs in Computer Science, but my father, who was a physician, said “why don’t you study medicine?” After a couple of conversations about it, it seemed like a good idea, so I kind of switched and wound up studying Medicine at UPenn [University of Pennsylvania]. I then did what in America would be called a residency, in Pediatrics in Germany at the Charité University Hospital. During that time, my original plan was to be a clinician. But then I got involved in a research project in genetics and diagnostics of Marfan Syndrome and Neurofibromatosis, and I just developed an interest in genetics. So, after I finished the residency, I switched to the Genetics Department of the hospital, and for the first time was doing mainly research instead of being a clinician. Sometime after I made the switch, by chance my wife was between jobs. She’s an Ophthalmologist and she was doing her Master’s in Medical Informatics, so she said, “hey, can you help me with this homework? I have to program something in Java,” so I started helping and I was like, “wow this is a lot of fun!” So anyway, I heard there was the field of Bioinformatics, and I looked that up and said, “hey this would be perfect for me.” So, I studied Computer Science via the internet at Columbia University and I got a diploma in it in 2004. Then one of my mentors in Germany sort of financed a Master’s student, so we did the first bioinformatics project together, and that resulted in a publication in Human Molecular Genetics, which is quite a good journal. And every year I added another person to the group and ended up with a pretty big group.
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https://jaxmecfs.com/2018/03/29/scientist-spotlight-peter-robinson-m-d-m-s/

Trish · Mar 29, 2018

Going off of that, what exactly will you be doing for the ME/CFS project?

So, the clinical data captured from the project will involve a series of yes/no questions, or a series of numbers. So if you have a yes/no question such as “did you have a fever in the last 7 days?” then that means you can divide your entire patient group into two cohorts, those that had fever and those that didn’t, and then you can do an association test. So, you can test an association with any of the things you can measure, like gene expression or immune activation. And this is fine for some clinical questions, but it’s not obvious how to create a profile for related signs and symptoms, as ME/CFS is a very complicated disease with manifestations in the neurological system, immunological system, pain, fatigue, and a very complex phenotype. So just measuring one of the features at a time is not necessarily the best way of capturing the phenotype.

So, our ontology framework basically allows you to capture the phenotypic cluster where patients are similar but not identical, so it’s not a yes/no question where it’s really clear you fall in this group or that group, but there are clusters of phenotypic profiles that resemble each other in a very flexible way. The goal is to develop a framework that will allow us to divide patients into clusters and then see if these clusters correlate with one or more of the features in the genomics base. That’s really the first component of the project.

The other component is to develop a machine learning framework that will also try to cluster the features such as distribution of bacterial species, gene expression, immune profiles, and metabolism. So, we have some major data sources in the project, and the overall goal is to create a machine learning framework that would look for clusters that can interrelate these data sources. And if we find something where we thought there was a significant co-clustering in two or more of these data sources, then my interpretation is that this would represent something that’s real rather than some kind of statistical blip.
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I think he sounds like a great asset to the team, with his combined knowledge of medicine, bioinformatics and genetics.

MErmaid · Mar 29, 2018

Trish said: ↑

I think he sounds like a great asset to the team, with his combined knowledge of medicine, bioinformatics and genetics.
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Yes, a great asset!

I read his bio, and felt he understood the nuts and bolts of what type of data to collect and how to use it. I hope he continues studying ME, because we need people like him to delve deeper.

Edited to add his bio:
https://www.jax.org/research-and-faculty/faculty/peter-robinson#

Barry · Mar 29, 2018

Looking at the literature, what’s striking to me is that the main problem is still identifying patients that have this disease and making a definition for it. It seems there are varying inclusion criteria depending on what study you look at, such that it’s very difficult to compare the results of two different studies.
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Yep.

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Jackson Labs blog: "Scientist Spotlight: Peter Robinson, M.D., M.S."

Andy Committee Member & Outreach

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Jackson Labs blog: "Scientist Spotlight: Peter Robinson, M.D., M.S."

Andy Committee Member & Outreach

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MErmaid Guest

Barry Senior Member (Voting Rights)

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