Brandeis Innovation

"The Protein Is the Drug" - Professors Dagmar Ringe and Greg Petsko Discuss Their ALS Breakthrough

The Protein Is the Drug

One of the great strengths of research at Brandeis is the collaborative, interdisciplinary approach that characterizes work in the University’s world-leading labs. This approach paid off considerably in the work of Dagmar Ringe, Harold and Bernice Davis Professor in Aging and Neurodegenerative Disease at Brandeis University and Greg Petsko, Gyula and Katica Tauber Professor, Emeritus, in biochemistry and chemistry at Brandeis University and currently Professor of Neurology at the Ann Romney Center for Neurologic Diseases at Harvard Medical School and Brigham and Women's Hospital. With twenty years of collaboration, working on neurodegenerative diseases, the team made a breakthrough in potential treatments for amyotrophic lateral sclerosis (ALS). To make this breakthrough, they worked with scientists around the US in different fields, in addition to their own work, which is built on their backgrounds in diverse sciences. The discovery was licensed to a Brandeis startup, BRI-Alzan which was later acquired by MeiraGTX, a New York-based gene therapeutics company for potential development into a life-saving treatment.

In this interview, Drs. Ringe and Petsko talk about their interdisciplinary research process and how it led to a discovery that not only promises possible treatments for a devastating disease, but also heralds a completely new application of existing gene therapy modalities.

Christina Inge (Brandeis Innovation communications): Whathas been your area of research over the last few years, what brought you to Brandeis? And what makes you excited about being a researcher at Brandeis?

Dagmar Ringe: My background is in enzymology, which is where I started. Some work I've done is actually enzymology but in order to stay there, I've had to learn many other disciplines. And not only that, to expand outward from simple enzymology because the world is bigger than that and the problems are bigger than that.

What's wonderful about Brandeis is the collaborative atmosphere. You can talk to people, they love to talk to you. They love to get involved in ideas, they love to get involved in promoting whatever it is that's being worked on. And it's just a really, really wonderful collaborative atmosphere.

Gregory Petsko: Well, I should point out, by way of amplifying what Dagmar said: she has an endowed chair in neurodegenerative disease research and I have a professorship in neurology and those are two subjects in which neither she or I have ever taken so much as a single course. So what does that tell you about how important it is what you major in or what your degree is in?

Dagmar is absolutely right about Brandeis. The great thing about Brandeis is it's not focused on disciplines. It's focused on learning.

Focus on discovery. If you make that the focus of your lifethen your education doesn't matter or what your major is; you'll learn things your whole life long and you'll end up in a place that's exciting and interesting. And that's what happened to both of us.

Christina Inge: Building off of that question: your research is very interdisciplinary and breakthrough in ALS treatment that was licensed to MeiraGTX is interdisciplinary. Can you put it in a little bit of context? Neurodegenerative diseases or something that the world is very eager to solve as the population ages, as the financial burden and human suffering burden of neurodegenerative diseases is so great. It's a problem being tackled from many different angles. What's unique about your research?

Dagmar Ringe: Actually, a number of different areas. One is the application of what is effectively structural biology to the problem, which is something that had never been done before. Part of the reason for that is that the brain hasn't been well characterized. Perhaps at the physiological level it has been, but not at the molecular level and the difficulties we're now facing are actually molecular problems. Certainly the ultimate causes of the neurodegenerative diseases are in fact at the molecular level. They manifest themselves at the physiological level, but they are in fact at the molecular level.

And so our approach has been very much to look at, number one, the molecular level. Number two, to look at it from a structural point of view, to see whether we can use those tools to begin to answer questions about how it works and why it works that way. Our goal is to be able to begin at least to try to find ways of intervention that would either slow down or stop disease progression. A cure is harder, because once there's damage, I'm not sure a cure is possible. But certainly the goal is to slow down, and to possibly limit, whatever that damage is.

Gregory Petsko: Exactly right. We started working on this, from what I would call a classical biochemical structural biology approach: let's find a protein that we can inhibit with a drug, and that's going to have an effect on the disease. And we did have some fairly clever, if I may say so, experiments. A person who did this was a wonderful postdoc, Shulin Ju, who used some genetic experiments in a model organism, yeast, to identify exactly such proteins, but he found a protein that you didn't want to inhibit - it was a protein you actually wanted to activate. The protein he found is one you want to get more activity from and in the experiment, he did. He built a model for the disease and then showed that if you boosted the activity of this protein by putting more of it in, you would overcome the phenotype in yeast that resembles ALS.

The extraordinary thing about that was it's very hard to raise the level of activity of a protein. Dagmar and I did that successfully in a very different project or a few years before that, using a tool that's called a pharmacological chaperone; it's a drug that allows the protein to stay around longer.

We didn't know if we could do that in this case. And I remember very vividly: we were sitting in her office. (We always went to her office because my office was a mess.) We were talking about whether we could find a drug that would do this and how that drug would act. We suddenly looked at each other. And I think literally simultaneously said wait a minute.

The protein is the drug.

We just need to get more of the protein, and we should put it in as a gene. Nobody had ever thought of doing gene therapy in neurodegenerative diseases, until we had that insight in that office that day.

And we suddenly realized that the gene was the drug we were looking for.

And so we set about finding another collaborator, who knew how to develop a gene therapy construct that we could use: the late Ron Klein at Louisiana State University. He successfully was able to put the gene for this therapeutic protein we discovered into a viral vector that you could use to deliver it therapeutically.

You can't just follow a problem in terms of what you know how to do. Sometimes that isn't the best way to go. By collaborating with scientists with different areas of expertise and different approaches, we were able to solve this complex problem.

Christina Inge: How is this different from what people may conventionally think of as a gene therapy?

Gregory Petsko: Conventional gene therapy involves diseases where a gene has mutated and you need to replace that gene with one that isn’t.

In this case, there's absolutely nothing wrong with the gene that we're using. We’re providing more of a healthy gene that can produce the protein that slows disease progression. This is the first time that's ever been done.

About the Researchers:

Gregory Petsko is the Gyula and Katica Tauber Professor Emeritus in biochemistry and chemistry at Brandeis University. He is also Professor of Neurology at the Ann Romney Center for Neurologic Diseases at Harvard Medical School and Brigham and Women's Hospital. A member of the National Academy of Sciences, the National Academy of Medicine, the American Academy of Arts and Sciences, he is renowned for his discoveries of treatments for neurodegenerative diseases.

Dagmar Ringe is the Harold and Bernice Davis Professor in Aging and Neurodegenerative Disease at Brandeis University. She was a Program Officer for the Program in Biophysics, Molecular and Cellular Biosciences, Division of Biology at the National Science Foundation (NSF) for many years as well as serving as Deputy Division Director, Molecular and Cellular Biosciences, Division of Biology, NSF. She is also a former Guggenheim Foundation Fellow. She is noted for her extensive contributions to the science on neurodegenerative diseases.

Learn more about the MeiraGTX license in this article.