Episode #14 of the Charged podcast. Gaurdia Banister, PhD, RN, NEA-BC, FAAN, is a longtime champion for diversity in nursing. In this episode she discusses the work she’s done to help more people of color enter nursing and why this work is so important.
About the Episode
Doctors have struggled for years to find an effective treatment for amyotrophic lateral sclerosis (ALS), in part because it varies greatly from patient to patient in terms of how quickly it progresses and the age of onset. But for neurologist Merit E. Cudkowicz, MD, those challenges are opportunities for scientific collaboration. She spends her days leading clinical trials aimed at better understanding ALS and working with patients to find better treatments for this debilitating disease. Today, new therapies are in rapid development. Her work has inspired hope for a disease that seemed incurable a decade ago. In this episode, she discusses her drive to find a cure for ALS and why she’s so passionate about her ALS patients.
About the Guest
Merit E. Cudkowicz, MD, chief of Mass General’s Department of Neurology and director of the ALS Multidisciplinary Clinic, decided during the second year of her residency that she wanted to pursue a career in experimental therapeutics. At the time, she noticed that Mass General didn’t have a clinical research program for neurology, and set about creating one. She has dedicated her career since then to studying ALS. She has revolutionized ALS clinical trials and even inspired hope that we can find a cure.
She co-founded the Northeast ALS Consortium (NEALS), a group of 100 clinical sites in the United States and Canada that join forces to conduct clinical trials in ALS, which she now co-directs.
Dr. Cudkowicz also established the Neurological Clinical Research Institute (NCRI), formerly called the Neurology Clinical Trial Unit (NCTU), at Mass General in 1994, where she now directs its 35 full-time staff who coordinate and perform data management for trials in several neurological disorders.
She received the American Academy of Neurology 2009 Sheila Essay ALS award. In 2014, she received the Lou Gherig Humanitarian Award.
Dr. Cudkowicz earned her BS in chemical engineering at Massachusetts Institute of Technology and her MD at Harvard Medical School. She also holds a master’s in clinical epidemiology from the Harvard School of Public Health.
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Q: As a high school student Dr. Merit Cudkowicz dreamed of becoming a nuclear engineer, but she soon set her sights on medical school and a career in research. However, she quickly realized that she had a passion for patient care during her residency in neurology care at Mass General where she studied neurodegenerative diseases. Over time, though, she fell in love with one specific group of patients. Those with amyolateral sclerosis, which is more commonly known as ALS or Lou Gehrig’s Disease. Today, Merit now directs Mass General’s newly launched John M. Healey and AMG Center for ALS, serves as Chief of our Department of Neurology, and leads the Neurological Clinical Research Institute where she works to understand how and why ALS occurs and searches for improved treatment options and maybe even a cure someday. So, welcome Merit.
A: Thank you for having me.
Q: So, most people, I think, probably weren’t familiar with ALS, before the Ice Bucket Challenge. So, what was it like being a part of that?
A: The Ice Bucket was an amazing viral success story, and it really changed the field for our patients with ALS and for the scientists studying it. It raised a lot of money and a lot of awareness in a very short time and it really facilitated drawing in new scientists to ALS and funding new ideas of how we can understand the illness better. So it was amazing to be part of it and to watch it and to see the outcome of it.
Q: Did you know it was coming? Did you expect any of it?
A: No, it really caught everybody by surprise. When it started people didn’t think it was going to continue and then it kept going and growing and it really went all over the world. I love to tell people a story that my relatives live in Italy and my Italian isn’t so great, and I’ve never been able to really explain to my aunt and uncle what I do for a living; after the Ice Bucket campaign I said, “That’s what I do.” Now they know. And that’s just an example of how this really created awareness of the illness all over the world.
Q: That’s amazing. It’s such a global impact too, I think. I remember when it happened, and it was so exciting to watch it really, as you said, spread like wildfire.
A: Yeah it was amazing. I mean there is a lot more to do. I think what the Ice Bucket Challenge really did is got awareness that this disease exists and it seeded a lot of research, but I think still people might not really fundamentally know what ALS is about and know what we need to do to get a cure. So it was an amazing first step, but we’ve got to do a lot more.
Q: So, What is ALS?
A: So, ALS is an illness that falls in the category of neurodegeneration. So that means that as people get older a part of the brain cells are damaged, and in ALS it’s the motor neurons. And those motor neurons are so important for telling our body how to move, how to move our arms, legs, speak, breathe, and over time those motor neurons get dysfunctional and people get weaker.
Q: So, when a patient is diagnosed and they have ALS what does it look like?
A: So, typically the beginning of it can be pretty subtle. Someone might notice that they are dropping things with their hand or they have a hard time maybe holding a pen. In other people it starts in the foot, so they might fall a few times, and in other people it might start with their speech that they get a little slurred. So it’s very different between people how it starts, but then over time it progresses to involve more and more muscles so that eventually people are not able to move, so they might be in a wheelchair or they might need breathing support.
Q: And do we know what causes it or where it comes from?
A: So, we know a lot more now than we knew even five years ago, but we don’t have all the answers yet. We know that for 10% of people with ALS it’s a genetic disease, so that it runs in their family, one of their parents had it, aunts and uncles, and in those 10% we know about 70% of the genes, so there has been huge advances in understanding the genetic form of the illness.
And that’s important even for the 90% of people where it doesn’t run in the family, because all those discoveries help us understand how motor neurons can be damaged. But the big black box in ALS is what we call sporadic ALS, and that’s the 90% of people that they don’t carry a gene that causes the illness. And we don’t still fundamentally know the cause in those people, but we know a lot about what is going wrong in the motor neurons, so we have a lot of good targets for treatments.
Q: Is that usual that maybe 10% of people would have a genetic component and 90% we don’t know?
A: That is very common in neurodegenerative diseases, so it’s also true in Parkinson’s, it’s also true in Alzheimer’s Disease, and some other neurodegenerative diseases. So, scientists have been really focused a lot on the genetic form, because you can get your handle on that, and you can develop models based on that. Understanding illness when there is not a genetic form is a lot harder.
But I still think it’s very hopeful even if we don’t know all the reasons why someone gets ALS, because if you think of it there is a lot of illnesses that we don’t know why people get it, but there are still cures for them.
Q: And are there environmental factors or demographic factors that you have identified within that 90%?
A: ALS happens all over the world, so there’s no really country that is immune from it. There are a few where it happens a little more often, like there is an island in Japan, an island in Guam, but essentially it’s global, all races, all countries. We know a few risk factors, but all of them are small. So, the most common risk factor is actually age.
It typically happens in people in their mid-50s, but the peak incidence is in the late 70s. And because of that actually we think that ALS is going to get much more common because the population is aging globally, So there is even more urgency to really try to find some treatments.
Q: And how common is ALS, in context with other diseases like heart disease that maybe people are more familiar with?
A: There is a couple ways to look at this. One is how many new diagnoses per year, and in that so one in 100,000 people are diagnosed with ALS. It actually comes down to like one every 75 minutes someone’s going to be told they have this diagnosis. The other way to look at it is lifetime risk, so if you live a normal lifespan what is your risk? And that’s actually pretty high. It’s one in 300 males will die of ALS and one in 400 women.
So, just for comparison, that isn’t that different than multiple sclerosis. It’s just that there is more people living with multiple sclerosis, because they have treatments now, and the hope again is that that is going to be true for ALS too as we get more treatments, that people will be able to live actually good lives with it.
Q: I’m curious to go back to the Ice Bucket Challenge. Did that impact the way that you were approaching your work or the way you were interacting with the public and other researchers?
A: Yes in many ways. I think the Ice Bucket Challenge came at the perfect time, kind of the perfect storm where the science was really exciting, but there wasn’t, there weren’t funds to do the work, and all of a sudden there is funding.
And so it drew in all these new people to the field. It really used to be that there were maybe a hundred, 200 people in the field, you knew everybody. Now there’s thousands. That is phenomenal, so the pace of science is picking up. And then it also forged a lot of collaborations to try to fund some of the big initiatives that need to get done to really understand the illness.
One example of that is I’m the Chief Medical Officer for a foundation called ALS Finding a Cure, and that foundation had just started before the Ice Bucket Campaign, so we reached out immediately to the ALS Association who received most of the Ice Bucket money and said, “Let’s put our money together and fund some really important critical studies that need to happen to move the field forward.” Those two groups merged 10 million dollars each and have made huge progress with the funding research based on that collaboration.
Q: When you think about research, and I mean to me 20 million dollars sounds like a lot of money, but is it enough?
A: Absolutely not. I mean so no one really can put a price tag on how much you need to cure an illness, but I think it’s going to be in the millions if not a billion, because there is so much to be done to really understand this illness. And even bringing one drug from the lab all the way through end stage testing can be $80 to $100 million, if not, if not more.
I think what the Ice Bucket Challenge and having all this new money for ALS have done is increase the odds of some big discovery, because there is so many more people looking at this illness.
Q: So having more chances to find it?
A: Yes, more chances, more people thinking about it from different fields, and a lot of collaborations.
Q: And what do those collaborations look like?
A: They’re really phenomenal. I have to say the people who go into the ALS field I think are of a certain type of person, that they really care about what they’re doing and have a mission. And so there really is very little what I would say are competition or silos, and that’s been something that I have tried to spend my career doing of building groups that work together to answer key problems.
So, there’s a couple great collaborations going on. One in North America is a trial consortium called the Northeast ALS Consortium that I helped cofound. And this is a group of about 130 centers that work together to test therapies for people, share, collect samples so that we can feed those to the scientists and the companies, and really just share data and share everything that we do to move the field forward.
But there is similar collaborations with the groups in Asia and groups in Europe.
Q: When you talk about global collaboration, is it hard to merge sort of American scientific culture with Asian scientific culture? Are there particular challenges to that?
A: I think there are some challenges, but they’re definitely ones that can be overcome. So, a couple years ago, for example, we decided that we really wanted to get to know the scientists in Asia who are studying ALS. A lot of great science was coming from them, but obviously with the distance we didn’t see them very often. And so we started to invite them to dinner every time we had an international ALS meeting. And we have been doing that for three years now, and now we have great collaborations. We got to know them as people. We got to learn about their science. And I was really excited in July, because I was invited to South Korea to the launch of a new Pan-Asian ALS Consortium, and I really felt like I actually knew the scientists there, and we were planning things that we could do together.
A: So, it’s a different approach, but it’s so critical in this illness.
Q: Do you think, is there ever a sense of competition, sort of we want to get the cure first?
A: I don’t think so. I mean obviously people are competitive and you drive faster when you do have some competition, but I think that there is, that is much more overshadowed by the need of speed, and people seeing that if you work together you’re going to get things done much faster. Even within the department, I really tried to encourage people to work together, to scientists and clinicians collaborating and collaborate cross-disciplines, because it helps everybody in the long run.
Q: You mentioned a few times different disciplines. What are those different disciplines that you are trying to bring together to look for these cures?
A: So, in ALS I think the fundamental core is getting the lab-based scientists, whether they’re molecular biologists or cell biologists, talking to the clinicians that are seeing the patients, so that is one connection.
The other is collaborating cross-fields. So, a lot of what we’re learning in ALS is true in Parkinson’s and Alzheimer’s and Huntington’s, so you want those groups talking to each other.
And then also you want to bring in people from completely other fields, like engineering, to think about, because they have a different way of thinking about the brain and the illness and delivery of drugs. So I think you can keep building like that. One good example of a new study is called Answer ALS.
And this brings together lab based scientists, clinicians, artificial intelligence gurus to collect a lot of data on people with ALS, basically characterize people incredibly well on every level and then see if using that big data set can you pick out different biologies and different groups of people to target treatments better.
I think it’s going to be a game-changer for us, because we have really realized in the field the last couple years is that ALS isn’t one disease. And just like breast cancer or lung cancer isn’t one disease, there is lots of different types, and you have to treat people differently based on their type. And we haven’t had the technology or the funding to figure this out until really the last two or three years.
Q: And what does treatment look like if someone is diagnosed and you said they noticed a twitch or a fall? What happens then?
A: So I think there is a couple key things. One, it’s really important for patients and the families to be part of an ALS multidisciplinary clinic. There’s lots of studies show that people function better, better quality of life, live longer who get that multidisciplinary care. The other are some treatments. So we have three FDA approved drugs for people with ALS. Two of them slow down the illness, I would say combined maybe about 30 to 40%, and one is a symptomatic treatment.
And the rest of the care is really what I would call symptomatic. There is a lot we can do to help people with their mobility and their swallowing and their breathing and again their quality of life.
Q: Three drugs seems like very few.
A: It’s not enough. And two of them are only developed in the very recently. So the first one was in 1994 and then there was about a 20 year gap until the next one.
So I do think that we’re on that cusp where we are starting to understand enough about the illness that we can have more targeted treatments.
Q: And there are a number that are in the pipeline that are being developed?
A: Yeah, the pipeline is actually really huge. One of my bio statistician friends coined the term we have “pipeline pressure,” which means that we have, so many things that are ready to be tested in people that we have to get more creative about how we test them so that we are speedy and efficient.
Q: And so once someone is diagnosed, what does the course usually look like? How long can they expect to be in treatment?
A: Yeah, the course is highly variable. You’ll see in the textbooks it says three to five years that people have the course, and that is why this is one of the, if not the worst illness out there, because it’s so rapid for people and they are often young people.
But there is a huge range, where there are people who have the illness 50-plus years. Steve Hawking is one example. And then unfortunately on the other end sometimes people have six months to a year.
And that is what is driving the field to think that this isn’t one illness. And there is obviously something that enables the illness to go really slow in some people and other things that make it really fast, and if we could understand that maybe we could actually have everybody go into more of that slower form.
Q: And I’ve heard there is forms where you maybe progress for a while and then you have these plateaus where you don’t progress. Have you learned anything about why that happens?
A: Yeah that is very true. So, we didn’t know that until recently when our group here actually worked with a foundation to get all the data from past clinical trials. And when people started to mine that data they saw that 25% of people or so will have these long plateaus. So we don’t know yet why, but it gives a tool to be able to study it, and so hopefully we’ll understand that soon.
So that gives also some hope.
Q: It seems to me that it would be challenging to come to work every day and work with these patients who ultimately are in decline, and I’m curious to hear, Merit, how you ended up in this field doing this work.
A: I have to say that I love coming to work every day and I love my patients, and I know it’s a serious illness, but I feel privileged just to be part of their lives and part of their family’s life to try to find something to help them. I think it’s so important to merge the clinical care and the research together and that hope that is good for the patients and the families, but it’s also really good for the doctors and the team to know that we’re going to make some breakthroughs.
I got interested in ALS in the mid-‘90s. I was a resident here at Mass General, and Dr. Brown who was my mentor had just found the first gene that caused ALS, and this was really the first crack in this illness. Really there was no, very little research going on before that. And I remember talking to him in the clinic and his enthusiasm and like we’re going to, this is, we’re going to do something, we can make a big difference. And I just felt this is what I wanted to do. I wanted to be able to jump in and see if I could find some treatments for these patients. And I’ve never, never looked back.
Q: Were there any particular patients that made you fall in love in that way?
A: Absolutely. When I started, I started a fellowship with Dr. Brown here, and I took care of a family from Connecticut where they had ALS in their family and three siblings out of five had ALS all at the same time. And my project really actually was to take care of them, but also to enroll them in the clinical trial where we were going to give them a treatment, and this was the first treatment trial ever in that illness.
And I learned so much from them, just about actually how a person deals with an illness and how to be a good doctor and how to do research. And I have stayed close to their spouses and children ever since then.
Q: And I’m curious, what did you learn from them about facing an illness like this?
A: Number one, and in particular Susan, she had given me permission to talk about her any time, she was a young mom, she was a teacher and her son was eight at that time. And she really taught me about how she kept her family about the family and not about kind of the illness, that she wasn’t letting ALS define her, that she kept doing the things that she loved.
And she was really all for other people, very generous of spirit, but at the same time she wanted to be part of research, even if she thought, “Maybe this isn’t going to help me. It’s going to help other people, not just in my family but elsewhere.” And I spent many hours at her home and she really just taught me about life, and I always say she was an incredible teacher.
I also made a promise to her that I would never give up on finding something for her form of ALS and I have to say I think we’re there now. So, there is now a trial that we’re part of to turn off the gene that she has. And so we launched this a couple years ago, and I invited her husband and her son, to come and to talk to the investigators about the trial. And I really think that this has the potential to work, because it’s right on the target of the illness.
So, it took a long time, but I think we’re there. And I know she would be really happy to know that we didn’t give up on this and that we’re almost there.
Q: That’s incredible.
A: Yeah, I’m very excited about that, hopeful.
Q: What role do the families play when a patient is diagnosed and they have this community of people around them? How do you engage not just with the patient but with their family?
A: It’s definitely an illness where you’re, the whole family is part of it, because they are there helping their spouse or their friend and doing everything they can so that the person with the illness can be living their life. So we, we will often talk to the family separately. We help support them too, because they are going through a loss as well. And often the family stay very connected with us and they go out in the community to advocate for ALS research and ALS dollars.
Q: Wow. I don’t know that I would have expected them to be so engaged with the clinic or the hospital.
A: Yeah. Again we meet so many amazing people. I would say in the last couple years we have also really build strong partnerships with the patient community for research, much has been done in other fields. But now every time we design a new trial, we’ll have a research advocate who is a patient or a family member of a patient who has gone through some training about a drug development, they will be on our steering committees and they will give us that feedback, will this work for people, maybe you should change this and that.
So, it’s a really connected community.
Q: And are you often, you mentioned this other family, you were in their home working with them, is that still a part of your routine with patients?
A: Yes, I love home visits. It’s the old-fashioned way, but I think you learn so much more about people in their homes.
One, they’re relaxed, because they didn’t just fight the traffic circle around Mass General or other hospitals, but really you see how they live in their center.
We just recently started a new house call program, thanks to a philanthropic gift by the Lipper Foundation. And it’s been phenomenal. We are now caring for a hundred people in their homes, and so we have a nurse practitioner and an RN who visit in the homes about every six to eight weeks. They can beam in the doctor or the doctor can go as well. And the feedback from the patients has just been terrific, that they really appreciate it and they find that they are getting better care and more often care.
I think no matter what illness you have, but particularly if you have a serious illness coming into the hospital is stressful and also takes a lot of time and energy for people. So, by our going to their homes they are saving their energy for the other things that they love to do.
Q: Yeah, that might take a little bit more and they probably want to do more than go to the doctor.
A: Yes, exactly.
Q: It’s hard for me to imagine having to tell people over and over again that they have this really debilitating diagnosis, what is it like to have that be a part of your normal routine?
A: Well, it’s hard no matter what, but I think it can be shared with compassion and with time, and I think that’s the key thing is to make sure that somebody is not alone and has someone that they care with them and that you have time to answer any of their questions and that you listen. I mean it’s a horrifying thing for people to hear. But I think we can do a lot to help.
Q: And how are you taking care of yourself and your team to make sure that you can be that support person?
A: Well, it is really important to think about that. We are really blessed that there is an amazing Chaplain at Mass General who meets weekly with our nurses and that is something the nurses sought out, just as a place where they can speak about what they are hearing and what they are thinking. Often the patients and their families sometimes share more with the nurses than with the doctors.
Q: And do you think the nature of treating a terminal illness, does that, do you feel a sense of urgency?
A: I absolutely feel a sense of urgency. And for our patients and just so that’s why I have a low tolerance for inefficiencies in the system so that I really try to push the envelope of how can we do things faster.
Q: And what is, you said it shaves off a year in a clinical trial, what do you usually expect the length of time for a trial to be?
A: So, an early phase trial can be like a two-year trial, so that is a big shaving of time, about 50%. A later stage trial can be more like maybe three years. But even that sounds really long. So one of the things that we are hoping to do with our new center is actually come up with approaches that further accelerate that process and get it down to more like six months or a year.
Q: And you mentioned the center. I know that there is the new formation of the Shawn M. Healey and AMG Center for ALS here at Mass General, and can you tell me about the new center?
A: Now that we have this new center, I’m just so excited about this and the opportunity that the family and the friends are all allowing. I think this is going to transform how we develop treatments for people with ALS and it’s coming at just the right time because we have this huge pipeline.
The idea is to actually borrow from other fields, like oncology, who have very successfully developed these innovative trial approaches that can rapidly screen through a big pipeline to pick the best drugs. They’re called adaptive platform trials. So we want to bring that success to ALS. And so the center will launch those first platform adaptive trials and I think will come back in a year or maybe less and have really gone through many of that pipeline and picked the best treatments to go forward.
The other thing we would like to do is really tackle this idea of personalized or precision medicine. So we know that the illness isn’t the same and the tools are there to sort it out. Can we really again push the envelope so that patients are enrolled in the right trial for them?
Q: How do you go about doing that if we don’t know everything about the disease? How do we make sure that people get into the right treatment or the right trial?
A: The idea of these adaptive platform trials are new for neurology, but they’re not new in oncology, and I think absolutely we can translate this to ALS as well as other neurological illnesses. The idea is that you have a master protocol, a trial protocol, that you have a shared control group, so a small number of people who are not getting the treatment, and then multiple arms with different treatments. And then you look at the data every month or every two months, and you adapt the trial based on how people are doing. So, if there is one group that the drug doesn’t look like it’s doing anything you can drop it. If there is another group’s doing well, you can add more people to it.
And let’s say a new science idea comes out from a lab in the drug that is available. You can actually add that arm immediately to the trial as an amendment. So this allows new ideas to come in and it’s a way to screen for the best drugs.
Q: So, it sounds like it’s more of an iterative approach to clinical trials. You don’t have to get all the way to the end--you make adjustments on the fly.
A: Exactly. Yeah, so when you have a big pipeline, and our pipeline I think is currently about 40 drugs, if you were to do them all on their own we would be here 50 years from now still screening them, and it would cost a lot of money, and in each trial half the participants would be on placebo.
By doing this adaptive platform approach you can screen them much faster. You share a common control group so there is fewer people on that and for shorter time. So it’s a superefficient approach. We have spoken to people who have done this in oncology and are learning again from them, and they again all say that everything we have in ALS is set up so that it could succeed in ALS.
Q: And what is the timeline?
A: I’d like to get it started within the next six months with the first one or two trials, and then hope that we would within the next two or three years maybe screen up to 10 drugs initially.
A: Yeah. So, we are ambitious, we want to go fast, but again we feel like there is a need to go fast. Having some initial philanthropic support to get it off the ground is actually really critical. And the hope is then it will attract industry and other funders to continue to grow it and maintain it.
Q: I know there has been some collaboration between the funders and the clinical team? What has it been like to have that partnership?
A: It’s been really amazing. I mean again we learn so much from our patients and what they bring from their areas of expertise and giving us feedback. So, it’s very collaborative.
And the idea of the center also is that it’s really going to have a global outreach, so when we pick the drugs that we want to test in this design we’re going to be making a global call for the best ideas and have a science committee that picks them again rapidly.
Q: I’m curious to hear a little bit more about finding collaborators, how you go about doing that both internally and externally?
A: It’s a good question. It’s something I’ve kind of always done, so it’s hard to know how it happens. I was lucky as a fellow that there was this idea of starting this trial consortium, and all of the more senior people didn’t really have the time to do the day to day things. So, I just started by trying to pull people in from different areas, and the idea is that again if we share we’ll be all better together. And I still have that philosophy.
So, I think it’s about being very open-minded and inviting people in and trying to just incentivize the collaboration.
Q: Do you think it’s, is it easier to attract people now that there is this hope that maybe the end is in sight?
A: Absolutely. I would say like 10 years ago it was very hard to recruit anybody into the field of ALS and now it’s quite the opposite. We even when I’m interviewing medical students for a residency here, they are coming in with research experience in ALS and saying, “I want to be an ALS neurologist,” which is just phenomenal, because that wouldn’t have happened a decade ago. And I think the young doctors are seeing that it’s an exciting field, one of hope and one that they could actually make a big impact on.
Q: I love that, it’s a field of hope. And once, if we get to a point where we have effective treatments and we have figured it out then what is next?
A: I dream for that world. I hope-- I don’t think it’s going to be that far away. I think the next step then is, there is two steps, one is prevention, go back to the idea of how can we prevent this illness, the other is repair.
On the prevention end I would say that we’re already starting in that for the people who carry the gene. So we have actually a large study to follow people who carry one of the genes to see what the first sign is and how do we actually start to set up trials to prevent the onset of the illness. Figuring that out for the sporadic illness is going to be more complicated, but I think that that would be the next goal.
And then on the repair side we know that if you can stop what is causing the motor neurons to be dysfunctional the body has a natural ability to repair and regrow. We know that from, for example polio, where a virus affected the same motor neurons, once the virus was cleared people recovered up to 90%, sometimes 100% of their strength. It took time, because the motor nerves grow one millimeter a day, but you could see that there would be an incentive to really focus on science of how you accelerate that natural repair process.
So I think that gives me hope that if we can get the right treatments to stop the dysfunction in the motor neuron that the body itself could repair.
Q: And what does it mean if someone has the gene? Does that mean you’re going to develop ALS?
A: If someone carries the gene there is a really high chance of getting ALS. It depends a little bit on which gene they carry. There is some where they are what we call fully penetrant, meaning 100% chance you’re going to get that illness if you live long enough. There is other genes where it’s more like 60 or 70%. But I do think we’re not that far from preventative trials in the genetic form, because we have these gene therapy trials going on in symptomatic people, and if they work the next natural step is to give it to people before they get symptoms.
Q: And how does a medication, I think you said earlier it potentially could turn off the gene, how does that work?
A: So, there is a technology called Antisense oligonucleotides. So what that is it’s a strand of DNA about 20 nucleotides, which are the building blocks of our genetic code that are, that match the mutated gene.
And you put this Antisense oligo into the spinal fluid, and from there it gets into your cells, into your motor neurons, and it actually finds the mutated gene and it blocks it from making the protein.
Since we did that first pilot study in ALS, there was another study in a childhood form of motor neuron disease called spinal muscular atrophy. And that treatment worked so well that it got speed tracked and approved as a drug for those infants with motor neuron disease. And so right now we’re in another study in ALS and there is a lot of hope for that.
Q: And you talked a little bit, you have talked about being a young doctor and getting into this field and having a sense of excitement. If you could go back and talk to your young self, would you be surprised at where you have gotten?
A: Absolutely. I think when I started out I certainly didn’t have the confidence that I have now, so which is true for a lot of young faculty and maybe in particular for young women. I don’t think I would have, I couldn’t imagine that I would be Chair of the Department of Neurology or really leading an international consortium. But I’ve always thought that you should only do things that you really love and that every day coming in and enjoying what you do is critical. And I’ve just kind of just followed that path and it’s really been a phenomenal career.
Q: Wonderful. Alright.
Before I let you go I have my final five questions. What is the best advice you have ever gotten?
A: The best advice I ever got was, when you get home to hang out with your family, that the work can wait until the next morning.
Q: Great. The name of this podcast is Charged. What does that word mean to you?
A: Charged means energized and hopeful.
Q: How do you recharge?
A: I recharge by playing soccer with my new buddies on my soccer team and having time with my family.
Q: And what position do you play?
A: I’m a defender on the right.
Q: Very exciting. When and where are you happiest?
A: I have to think about that one. I’m happy most of the time. I would say that I’m happiest when I am launching a new initiative. When I have a new idea and a new trial.
Q: Great. And what rituals help you have a successful day?
A: I think I am most successful when I have some time to think, and when I can have some time alone just to think about what I’m doing and not rush from one thing to the other.
Q: And do you build that into your daily schedule?
A: I do. I try to have at least two hours a day where I have some time to think and work.
Q: Perfect. Well, thank you so much, Merit. It has been such a pleasure to talk with you and learn more about ALS.
A: Oh thank you for having me here today.