The Engagement Ring

The Science and Research Behind Myotonic Dystrophy

Episode Summary

Myotonic Dystrophy is the most common cause of adult muscular dystrophy and has a surprisingly high prevalence in New York State of approximately one in 2,100 people. In this podcast, Dr. Andy Berglund, director of the University at Albany's RNA Institute, discusses the disease, also referred to as "DM" -- DM1 and DM2; symptoms; prevalence; and current research. Dr. Berglund and his colleagues are establishing a Center for Myotonic Dystrophy that that will serve as a hub for academic, clinical and industrial collaborative partnerships to increase research, educational and clinical opportunities related to myotonic dystrophy. The RNA Institute was awarded seed funding from The Marigold Foundation to help develop the center.

Episode Notes

Dr. Andy Berglund's bio:

The RNA Institute:

Myotonic Dystrophy Foundation:

Muscular Dystrophy Association:

Marigold Foundation:

Paul D. Wellstone Muscular Dystrophy Specialized Research Centers (MDSRCs):

In the news... 

UAlbany's RNA Institute wins grant to develop muscular dystrophy treatment, Times Union, Sept. 13,2022


Episode Transcription

Transcript of The Engagement Ring, Episode 8, The Science and Research Behind Myotonic Research

[Lively, upbeat theme music plays as program host Mary Hunt introduces the program and plays excerpts from Dr. Berglund’s interview.]

MARY HUNT: Welcome to the engagement ring, your connection to an ever-widening network of higher education professionals, scholars, and community partners working to make the world a better place. I'm Mary Hunt. Today on the podcast...

ANDY BERGLUND: Myotonic dystrophy is a toxic RNA disease. Unfortunately, there is no cure or good treatments. What the field is doing… the clinicians are…they’re treating the symptoms.

MARY HUNT: Dr. Andy Berglund director of the RNA Institute at UAlbany discusses the science and research behind Myotonic Dystrophy, a rare multisystemic inherited disease that affects over 3.6 million individuals worldwide. Dr. Berglund and his colleagues are developing a center that will serve as a hub for academic, clinical and industrial collaborative partnerships to increase research, and educational and clinical opportunities related to Myotonic Dystrophy.

ANDY BERGLUND: I've recruited people from the University of Florida. I've recruited them from other universities and we're building our Myotonic Dystrophy expertise. We're probably already now one of the top places in the world for this. 

MARY HUNT: Here's my conversation with Dr. Berglund... 

(Music fades out and interview begins)

MARY HUNT: Welcome to the podcast, Andy. 

ANDY BERGLUND: Thank you for having me, Mary.

MARY HUNT: Sure thing!

MARY HUNT: September is National Muscular Dystrophy Awareness Month. Uh, and September 15th has been designated International Myotonic Dystrophy Day. So Myotonic Dystrophy, or DM, as I understand it's called, is a form of Muscular Dystrophy that affects over 100,000 individuals and their families in the U.S. DM is an area that you've taken a particular professional and personal interest in. I want to talk to you a little bit about that. Uh, but first, can you explain what Muscular Dystrophy is, what Myotonic Dystrophy is and what their link to RNA is?

ANDY BERGLUND: Great question Mary, or set of questions. So, Muscular Dystrophy is an umbrella term for any type of disease where there's muscle wasting or muscle weakness, or even like your muscles don't work properly. So, it covers probably more than 50 different diseases. And then Myotonic Dystrophy is the most common adult-onset form of Muscular Dystrophy, but there are other forms of Muscular Dystrophy that are probably better known. For example, Duchenne's Muscular Dystrophy is the one that many people sort of think of as Muscular Dystrophy. And it's where the boys… young boys are affected at a fairly early age. They lose their mobility and sometimes by nine or 10 years old, they lose the ability to walk and they're in wheelchairs. And so, it's a devastating disease, but it is again, sort of covers lots of different diseases. And actually, Lou Gehrig's Disease, ALS, is also sort of under the umbrella of Muscular Dystrophy. And then Myotonic Dystrophy, as I said, is a very common adult form, but we actually do see babies born with Myotonic Dystrophy. Sometimes it's called floppy baby syndrome because they just really have no muscle definition. And so they'll get diagnosed at birth sometimes, sometimes, unfortunately they aren't diagnosed right away and that, um, frequently leads to one of the parents being diagnosed, aunts and uncles, because it's an autosomal dominant disease, meaning that it's in every generation. And then the reason why we're so passionate about it, because I'm passionate about RNA is that Myotonic Dystrophy is a toxic RNA disease. What happens in Myotonic Dystrophy and similar to other diseases, but we’ll focus on Myotonic Dystrophy today, is you have an expansion genome and it generates a toxic RNA and that toxic RNA sequesters proteins that shouldn't be sequestered and it leads to lots of changes at the level of RNA. And so that's why we think about it as a toxic RNA disease. It's probably, it was probably the first disease that was, um, coined a toxic RNA disease. And there are lots of other RNAs that cause problems. You know right now all of us think about RNA because of SARS COVID-2 or the COVID-19 RNA virus, but we've been thinking about RNA, not just in viruses, but in our human genome and how they can cause trouble and how we might be able to address that.

MARY HUNT:  I feel as though we haven't heard a lot about Myotonic Dystrophy. Am I correct? Why? 

ANDY BERGLUND: Yeah, it's been, it's been under the radar. I think it's because it's a relatively slowly progressing disease. For example, ALS is really a tough disease on the, on the individual and the patient, because it tends to once it, once there's onset, it's very rapid. Sometimes people may only live for three to five years with ALS for example, but with Myotonic Dystrophy people can be born with it. They can be severely affected, have cognitive issues, have mobility issues, but they can live into their forties, fifties, even sixties. And so, it's this disease that is really tough on the individuals and the families, but it, it doesn't always lead to a quick and sort of horrible death like ALS. Um, and then I think it's also something that their, um, people with Myotonic Dystrophy tend not to be motivated and they tend not to sort of engage. A lot of people with Myotonic Dystrophy have a hard time in social situations. I was actually just at a conference for Myotonic Dystrophy families, clinicians, and researchers. We all get together once a year. And one of the things that was really interesting was interacting with some of the caregivers that were there. And they said, you know, we really wanted to come, but my son, he just doesn't want to leave the hotel room. He's just laying in bed. It's hard for him to motivate and he knows it's an important meeting, but he just doesn't have the motivation. So, it's tough for them.

MARY HUNT: Sounds devastating. Um, it's also referred to as an orphan disease. What does orphan disease mean? 

ANDY BERGLUND: Yeah, an orphan disease is a designation where there's, it's rare. So it's thought to be not as often as one in 2,000 or one in 1,500. And so Myotonic Dystrophy is sort of on the cusp, that's still considered rare, but actually in New York State through newborn blood screening where they took all the blood spots, well, a subset of them, a hundred thousand of them and looked, they realized it's actually more prevalent than we think. It's about one in 2,100 in the State of New York. Worldwide it's thought to be one in 8,000 or maybe even one in 10,000. And in different parts of the world, there's different prevalence. Interestingly, one of our collaborators is up in Saguenay, Canada. And in that region of Canada, the prevalence is one in 500. So, there's different regions of the world where the prevalence is different.

MARY HUNT: Do we have any idea why it's more prevalent in certain areas? Does the research offer you any guidance in, in that area. 

ANDY BERGLUND: So, I was actually just at a, again, this Myotonic Dystrophy conference where I was with some of my colleagues from that region of Canada. And we were talking about this and they, their working model is that it's not an area where a lot of people move in or out. And they believe that someone moved in, you know, maybe 150 years ago. And it may have been a family that moved in and then they married to lots of other families in the region and they spread the disease. And for whatever reason, it just sort of grew through that mechanism. And I think at least they think because not a lot of people come and go from this area there's a little bit of inter-marrying, not first cousins, but there's relations and people are intermarrying. And so, it leads to sort of the continuation. And the other thing we were talking about at the conference is that up in this region of Saguenay, it doesn't seem to be quite as severe. There's not as many children born with this severe form. So because when a child's born with a severe form, it, it almost in a sense sort of ends that branch of the disease because it's very unlikely when someone's born with the severe form they're going to have children themselves, or they're very careful and they're going to be thoughtful about planning pregnancies and do screening so that they can avoid having children with Myotonic Dystrophy. What tends to happen with Myotonic Dystrophy is people don't know they have it. And so, they, they don't know that they're supposed to be screening for Myotonic Dystrophy. And so, there's, for example, one of my staff members, you know, they, you know, the husband didn't know he had Myotonic Dystrophy. They had two wonderful children, and in their teens, they started showing symptoms. And at the same time, as the teens were starting to show symptoms, the father started showing symptoms. And so, they all were getting diagnosed at the same time, but they didn't, they didn't know so that they couldn't say, oh, wait a minute we need to be really strategic or thoughtful about this. 

MARY HUNT: It will be in every generation is what you're saying, but is it possible to have the disease and never show any, uh, symptoms?

ANDY BERGLUND: So, you can be very mildly affected. So, there's individuals, we know, for example, sometimes the grandparents will be very mildly affected and may not really have symptoms, but they'll just have found out they have it because one of their children have it. And then maybe the grandchildren may be more severely affected. And I should say it's a 50% chance of passing it off. That's what the autosomal dominant means. You have one, one of your two genes as we call them, has the mutation and one doesn't, and you pass on one of the two. And so, it's thought to be about a 50% chance. Something else that's really interesting that we don't fully understand is that when, uh, moms have babies and if the mom has the disease and passes it on, unknowingly almost always, the children tend to have a more severe form, and something we think about -- genetic anticipation -- which is unique to these Myotonic Dystrophy and other repeat expansions. So, I'll just take a step back, the way Myotonic Dystrophy sort of, um, is what, what it's caused by is these repeat expansions. So, and they tend to grow, um, actually even in your own body, but they can also grow in each generation. And so, the growth of those repeats is thought to lead to the toxicity. And that's actually why we think a lot of people don't show symptoms until later in life is that they may have inherited, you know, say a few hundred repeats, which may cause symptoms or may not even cause very, any symptoms. But, unfortunately what the repeats tend to do is within our own, within our bodies, they grow and like in the muscles or even in the central nervous system or your brain, they actually keep expanding. And as they get bigger and bigger is when we think they become toxic. It's the same thing with the repeat expansions that cause ALS. So not all of the mutations in ALS or mutations, but actually Huntington's disease also works this way. So, Huntington's has this growth of these repeat expansions. So that it's a relatively, um, common thing, these repeat expansions, but a lot of people don't know about them and that's why we think it's important to provide education about repeat expansions. I'll just give you one more example about these little, little repeats in your genome that can grow. There's an eye disease called Fuchs’ Endothelial Corneal Dystrophy, where about 5% of the population actually have the repeats. What we don't fully understand yet is how they expand just in the eye and why some people get the disease and some don't. So, these repeats are sort of scattered through our genome. Sometimes they expand, not always so it’s sort of understanding what triggers them and then how we can control them. It's a really important question in, in this, in, in our science right now. 

MARY HUNT: When was DM first identified?

ANDY BERGLUND: Yeah. So, DM has been known for over a hundred years. A German physician, Steinert, identified the disease and it was actually called Steinert’s Disease for many years. Um, and then it was in the fifties or sixties that more people started, um, studying the disease and realizing it wasn't as rare as they initially thought. And. It, it was, uh, called Myotonic Muscular Dystrophy or even Dystrophia Myotonia. So, for many years, we, we kept realizing many people have this disease, but it wasn't until the nineties that a couple of different research groups identified the mutation and the mutation was found in a protein kinase. And so, that's how the name Dystrophia Myotonia Protein Kinase came around. So, there's this gene called DMPK that people associate with Myotonic Dystrophy. So that was identified in the nineties. And it was actually thought that it was the loss of the kinase that led to the disease, but it was a, a clever experiment in 2000 published by my colleague and friend Charles Thornton at the University of Rochester with his trainees, where they actually made a mouse model and they expressed the CTGs or the CUGS at the RNA level. And if you express the CUGS in the absence of the kinase, you get, you generate mice that have the toxic RNA and lead to the same phenotypes. They have the muscle wasting, the muscle weakness, even the myotonia, which is a hallmark symptom. And the reason why we call it Myotonic Dystrophy is the myotonia is… individuals can, um, make, make a fist for example, or their muscles contract, but they can't release. I was just this weekend with family members with Myotonic Dystrophy, or not my family members, but friends, uh, with their family members and they were talking about how sometimes it can take up to five minutes to release their muscles. If they make a fist, they just slowly relax. It just takes a long time. So that's the myotonia and that's where the name Myotonic Dystrophy came from. Actually, clinicians that, you know, see these patients, one of the things they'll do, if they think someone has Myotonic Dystrophy, they'll say, “Hey, can I shake your hand?” And they'll shake hands and then they'll see that the patient can't actually release because they've sort of locked up their grip. So that's the myotonia. 

MARY HUNT: And I think you just referred to it in your answer, but why is it called DM? 

ANDY BERGLUND: Right. Yeah. So, well, some people think about MD for Muscular Dystrophy, but it's also for medical doctors. There are a lot of reasons maybe to avoid MD. And Dystrophia Myotonia, the, the Latin for DM, so that's where the name comes from. And, and we in the field call it DM 1, actually. So the, the kinase I was talking about that mutation was discovered in the nineties and then sort of the, a really interesting set of, um, of experiments were done with other individuals that didn't have the mutation. They had very similar symptoms. And in 2001, um, colleagues at the University of Minnesota realized there was lots of other families that had a different mutation and it was called DM 2 or Myotonic Dystrophy Type 2. And so, a different mutation, but again, toxic RNA from a different place in the genome and you get the same types of changes at the molecular level. So, a lot of us study both Myotonic Dystrophy Type 1 and 2 because by studying both diseases we learn a lot about Myotonic Dystrophy and actually many of us study not just Myotonic Dystrophy, but other repeat expansions. So, I have a senior post-doctoral fellow and a graduate student who study Spinocerebellar Ataxias that are actually caused by CEG repeat expansions. And they also have sort of a toxic RNA component. So, by studying different repeat expansion diseases, we can learn what's common and what's unique about them and it gives us insight and even potential therapeutic strategies to think about.

MARY HUNT: So, there are two forms. There's DM 1 and there's DM 2. Are the symptoms different for both? How do they manifest themselves? 

ANDY BERGLUND: Great question, Mary. So, DM 1 is, tends to be a little more severe and for reasons we don't fully understand in DM 1 you can have young people severely affected. In DM 2 you actually have longer repeats, more toxic RNA, but I think the earliest onset is in the twenties. So, there's something about the way the RNA is produced or where it's produced leads to a later onset in DM 2, and then actually DM 2, they have a lot of pain issues, so they're, they talk about their pain. They talk about sort of a brain fog, cognitive issues. DM 1, we don't hear as much about that although we hear from the families about the cognitive issues and then actually the muscles in DM 2 tend to be affected sort of closer to the heart. So, we call that proximal. So close to the heart, or while in DM 1 the muscles that are affected first tend to be more distal. So down, you know, at or near your ankles they're severely affected, near your wrists. And then it, it does keep moving up. And so many muscles will be affected. 

MARY HUNT: Is there any cure now or on the horizon for DM, and also what kind of treatments are available? 

ANDY BERGLUND: So right now, unfortunately there is no cure or good treatments. What, what the field is doing, the clinicians are they’re treating, um, the symptoms. There are things that they take from other fields. For, for example, many people with Myotonic Dystrophy also suffer from Autism. So some of the medications that people take for Autism individuals with DM take to help them with their attention. One of the challenges is there's excessive, daytime sleepiness. So, they'll just, they'll fall asleep all the time. The DM ones a little, the DM twos not as much. And so, there are drugs that help with excessive daytime sleepiness, but you're just treating the sort of the downstream symptoms. What many of us in the field are trying to do is identify therapeutic strategies that target the toxic RNA and basically destroy the toxic RNA or reduce the levels of the toxic RNA. I was just at this, Myotonic Dystrophy meeting and there were 10 companies, biotech, pharma talking about their strategies. There's many of us thinking about this. So there's a lot of hope compared to what, where the field was 10 years ago. 10 years ago, there was maybe two or three companies. Now there's over 30 different companies exploring therapeutic strategies. There's a couple of things in clinical trials. So that really raises the hopes for the, for everyone in the field that maybe things will move forward. It's a complicated process though because, you know, just because you're in clinical trials, doesn't mean it's going to get FDA approved. So, it has to 1) be safe and then 2) it has to show that it has a really positive impact in the field. And there are certain things that the clinicians can measure, but that was one of the things we talked about at the meeting is, you know, what are the right things to measure? What matters to the patients? And that's one of the, the unique things about our field. We all get together. So, you know, there were hundreds of patients and their families there, the clinicians that are treating them, and us, the basic researchers, and the drug companies were all talking and, and, and trying to solve the problem. So I, I like that about the field. One of the things that people were talking about at this conference was how friendly everyone is and how we have this common goal. And it it's really a, a unique situation, I think in the sense that we're a small community, but we're really passionate about hopefully making, making differences in these families’ lives very soon.

MARY HUNT: Talk a little bit about how you came to be interested in this field and, uh, when you first began your research in this area.

ANDY BERGLUND: Yeah, like many people I hadn't heard of Myotonic Dystrophy back in 2002. My very first undergraduate student at the University of Oregon his mother was affected by Myotonic Dystrophy. And he started talking to me and said, “Hey, you know, you study RNA. You should think about studying this, this toxic RNA disease.” And I was like, well, I don't know. It's not really what I'm thinking about. I'm just starting out my research, but this student, you know, really passionate about it said, “Hey, maybe we just do a little bit.” And so Jeremy Logue, said, “Hey, I'll, I'll just, you know, work on the side. And so he started working on this, um, as an undergraduate and then as a technician in the lab and he really sort of built up the project. And it was neat. He got the first crystals of the toxic RNA and we solved that structure back in 2005. So, we solved, um, that the first structure of the toxic RNA and it really sort of helped the field think about the structure and how you might target that toxic RNA. I think for Jeremy, it was a little bittersweet because he lost his mother to the disease, um, before we were able to publish that work. And so, we dedicated it to him. And so I think, you know, those interactions really motivated me, um, and sort of in that small world, uh, you know how things work. Jeremy's actually now an associate professor at Albany Medical College just down the road. And so, he and I get together and talk science and, uh, he now studies regenerative science and cancer, but he has, of course, a strong interest in Myotonic Dystrophy and we keep talking about it.

MARY HUNT: Your interest has never waned.


MARY HUNT: It seems your interest has just deepened.

ANDY BERGLUND: It has just deepened. I think it's because of all, you know, that was the first interaction, but then many families have come to visit the lab, first in Oregon and then the University of Florida. And now here at University at Albany we've had many people come visit and actually I have two of my staff members that are personally affected. So I mentioned earlier, one of my staff members, her husband, and both children are affected by Myotonic Dystrophy. So she really, you know, provides this motivation. She's analyzing the data with us, but what's really neat is, um, she says, “Hey guys, we need to think about it in this way because my family's affected this way. There are things we don't always think about. For example, her and several other families about seven years ago were really talking to us about the GI issues. So unfortunately, people with Myotonic Dystrophy really suffer from GI and it's sort of the two extremes. It's not just diarrhea or constipation. It sort of seems to flip flop back and forth. It's really tough. Again, another reason why they don't like to go out. Um, and so we, based on that sort of those interactions and, and thinking about, well, how can we model this? How can we, um, study this? We decided to use zebra fish. So, these little fish that are transparent when they're developing and you can see their intestine, their gut. And so, the genes that cause Myotonic Dystrophy are conserved in zebra fish. So a, a post-doctoral fellow that I was jointly mentoring, developed a whole series of fish models that now allow us to model, um, the, the GI issues. And actually, what we're going to do here at University of Albany is we're starting up a zebra fish facility so that we can have those zebra fish here at Albany and other colleagues want to use the zebra fish facility. So, it's really exciting to be able to bring those here. And one of the things we're proposing to do is to look at small molecules that are already FDA approved to see if they could have a positive impact on the GI issues. And then interestingly, these fish seem to have, appear to have circadian, so that sort of your, your daily rhythm. Their circadian rhythm is off. And we think that might have an impact on the daytime sleepiness. And so, we want to use the fish to model the sleep issues and the patients too. So, it's been sort of a new area that we're really excited about. And then my second, uh, staff member, he came to us from industry and MIT. His wife was diagnosed with Myotonic Dystrophy. He actually has taken compounds into, uh, helped take them into clinical trials for cancer. But with the diagnosis, he's gotten really motivated with Myotonic Dystrophy. And so, he's making new molecules that we test in our cell lines, and then we move them into say the fish models or into mouse models. And then, you know, the ultimate goal is to get them into clinical trials. And with colleagues, clinical colleagues, we have some molecules that we’re, um, moving into clinical trials because we've shown that they're safe. They’re things people take for other reasons and we think they could have positive impacts. So that's something we're really excited about.

MARY HUNT: And all of this Andy has led you to establish a center for DM at the RNA Institute. Can you talk a little bit about the work of the center? Obviously, you've covered some of the things that you're involved in, but what is your vision for the center? 

ANDY BERGLUND: My vision for the center for Myotonic Dystrophy is to really bring people together to continue pushing forward the research, the treatments, and, and even, you know, interacting with the families and being motivated by the families and providing them sort of that information and having them give us the input on the science. So, uh, I've recruited people from the University of Florida. I've recruited them from other universities and we're building up Myotonic Dystrophy expertise. We're probably already now one of the top places in the world for this and with our colleagues at Rochester who see the patients, we think we, the State of New York has probably maybe the world's best expertise across the two institutions. And so, we we're building on that. We have a foundation up in Canada that's really passionate and supportive and they've provided well over a half-million dollars towards the development of this. And then we just recently got a big NIH grant, that's going to support this. So, we just have all this momentum towards building this DM center. In a way, I, I think we have the foundation built, maybe some of the walls, so we need to fill out the rest of the walls, put the roof on and just have everyone come join us.

MARY HUNT: You mentioned Dr. Thornton in Rochester. When did you guys meet and how do you work together? Are you in frequent, uh, consultation or conversation about your next steps? 

ANDY BERGLUND: Yeah, Charles Thornton is a great friend and colleague. He welcomed me into the community back in 2004, 2005, um, when I was a junior professor really sort of getting my feet wet and I think he was like, wow, maybe Andy can come join us and make a difference. Um, and Charles and I started collaborating back in 2006 and we just keep collaborating. We have something called an NIH Wellstone. There’s only six of them, um, across the country funded by the NIH again, sort of more funding that helps us build this DM center. So, Charles and I have collaborated for over 15 years. We see each other a couple of times a year. We were just together at the Myotonic Dystrophy meeting. He's actually the chair of the scientific advisory committee that I sit on with him. So, we do so many different things together. And it's, it's fun. He's a great friend and colleague. We're always talking about the science and how we can hopefully make a difference. 

MARY HUNT: And you just did return, as you mentioned from the Myotonic Dystrophy Foundation conference. What are people talking about? What's on their radar? What are they excited about? Or, you know, what are they urging the scientists there… because it sounds like there are family members, there’s industry represented, and the scientists themselves. What’s the conversation among those various, uh, constituencies like?

ANDY BERGLUND: It's exciting because there's a, it's a hot time or exciting time in the field right now with some clinical trials. So, we got updates from industry. The clinicians are excited. They don't yet have the tools, but they're hoping these, uh, trials may help. One of the things that we had a whole session on was exercise. So, exercise is something that can be complicated for people with Muscular Dystrophy because the muscles are wasting away or thought to be weak. And so, there's been a little bit of a concern. Sometimes primary doctors are like, well, maybe you shouldn't exercise because it might actually, you know, hasten the, the weak, the weakening of the muscles. At least in Myotonic Dystrophy we don't see that as the case. We had two different groups, actually both interestingly from Canada, talk about how aerobic exercise really benefits patients and how strength training, you know, in a controlled environment really, uh, helps patients. And then what we did actually in collaboration with our, our one of our groups in Canada is we, um, have biopsies, little muscle, little pieces of the muscle taken from the individuals before exercise and then 12 weeks after the, or after the exercise, it’s a 12-week exercise sort of regime. Intervention is what they call it. And so, we look at what's happening at the molecular level before and after the exercise. And so, the patients see benefit from the exercise. We want to know what's happening at the molecular level. And we use something called deep sequencing or next generation sequencing. And so, we're, we're looking at all the RNAs. Computationally we've sequenced it. Now we have to mine all the data. And it's bioinformatics. And what's really neat is when we look at these patients before and after exercise, there's a lot of changes that are consistent with the positive impacts they're seeing with their improvements and muscle strength. And actually, even for a few individuals, some of the splicing was linked to the toxic RNA is improving. So it was, it was a really exciting thing. All the clinicians, um, were talking about exercise. Actually there was one part of the meeting where there was probably 400 people all doing exercise in the ballroom because we were emphasizing that exercise is good. And so, it was sort of fun to watch. 

MARY HUNT: I'm sure the Myotonic Dystrophy Foundation is an excellent, um, source of information for families or individuals who'd like to have more information about the disease, but what resources would you direct people who want to learn more about DM to, or people or families who are afflicted with this illness?

ANDY BERGLUND: The Myotonic Dystrophy Foundation is spectacular. So, it's just They have so much great information, but there are other sites as well. The Muscular Dystrophy Association has a really nice site. And what's nice about the Muscular Dystrophy Association is they put the Myotonic Dystrophy in the context of all the other muscular dystrophies so if you want to see that bigger picture, you can look at the MDA and then the National Institute of Health, and many other places have information on the disease, on the symptoms, on the clinical trials. So, there's a lot of places you can go. Um, yeah, so just start Googling and you'll find good information. 

MARY HUNT: And I don't want to go before, uh, talking a little more about the RNA Institute's work too. That’s a real source of pride for all of us here at UAlbany. I know the way you work with your students and your commitment to your students. So, I just want to give you a chance to tell us a little bit about what's up at the RNA Institute and, uh, also, uh, talk a little bit about the role students play in the Institute's work, if you will. 

ANDY BERGLUND: Yeah, the RNA Institute, it's a research center but actually I changed the mission when I got here to training the next generation of RNA researchers. And, you know, it's so much fun to interact with undergraduates, graduate students, post-doctoral fellows, even a few high school students, uh, get embedded into our, our programs, our research and educational training programs. And one of the things we did that I'm particularly proud of is during COVID, you know, a lot of people sort of had to shut down research because they, you know, you couldn't be in the lab. And so, what we did was we pivoted in that summer of 2020 to do what we call bioinformatics research or computational research. So, we can still engage lots of researchers and what they just need is the ability to Zoom and a laptop. And then they can access what we call this big data or genomic data. And we have hundreds of patients that have provided biopsies, and all that RNA seq data. And what we can do is we can mine the data and keep asking questions. And so that summer we taught, I think, just 25 students, how to mine the genomic bioinformatic data and how to help understand what's happening at the molecular level with Myotonic Dystrophy patients. So, it was a way to keep moving the research and keep training undergraduates, high school students. This past summer, we had over 80 trainees join us from around the world and they learned about Myotonic Dystrophy. One of my staff, who's very passionate about educating people, her, um, and her husband and their kids, their basically college age, they actually take two hours to, to share their experiences with Myotonic Dystrophy.  So even people that are sort of just doing the research virtually get to have these interactions with, with people with Myotonic Dystrophy. And then we, we explain to them how we generate the data. So, we take the muscle biopsies, we process it, take all out the RNA and then we sequence all that RNA. And then the students are learning how to use computational tools to mine all the data. And, you know, then we want them to understand, okay, well I'm mining the data, but I want to do it in the, in the context of important questions like, well, there's differences between males and females with Myotonic Dystrophy. Can I look at the data at the molecular level between the males and females and, and glean some insights. And so that's actually things that some of our students, summer students have helped us do. So, they they're really doing cutting edge research. And I think that's one of the great opportunities in the RNA Institute for UAlbany students and other students to come do cutting edge research, um, make a difference in important research questions, get published, uh, at an R1 university and do great work.

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MARY HUNT: Andy, every time I talk with you, I'm always struck by your hopefulness and your optimism.

ANDY BERGLUND: Thank you. 

MARY HUNT: And I'm encouraged by it because I also know what a fine scientist you are. So I, I believe it's, it's, there's much foundation, um, underlying it, so I'm happy about that. 

(Both laugh)

ANDY BERGLUND: Well, I'm always happy to talk about my science and Myotonic Dystrophy is a passion for me. As I said, you know, it started now 20 years ago. Um, but I'm, you know, I feel like I keep learning new things about the, about the disease, about how people with Myotonic Dystrophy overcome it. So, just sort of as a final note, you know, on Saturday night at the end of the conference, they, uh, play music and everyone gets up and dance and the Myotonic Dystrophy folks just love to dance. They all get out on the dance floor and they're just cutting it up and they have a great time.

MARY HUNT: Oh, that sounds wonderful. Sounds like a great, great weekend. Not just work, but a lot of pleasure there too. So very, very rewarding conference. Andy Berglund, thanks for being my guest today, and I wish you the very best of luck with your important work.

ANDY BERGLUND: Thank you, Mary, and thank you for letting me share our, my, my work and my story about Myotonic Dystrophy. 

MARY HUNT: It's a pleasure. 

MARY HUNT: Dr. Andy Berglund is the director of the RNA Institute at the University at Albany. Follow Dr. Berglund’s team on Twitter at Berglund lab. To learn more about the work of the RNA Institute, visit Albany dot edu slash rna. For more information on Myotonic Dystrophy, visit the Myotonic Dystrophy Foundation online at myotonic dot org. The Engagement Ring is produced by the University at Albany's Office for Public Engagement. If you have questions or comments or want to share an idea for an upcoming podcast, email us at UAlbany OPE at

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