A Genetic Link to Vertigo? Discussion with Dr. David Jones

Bob Traynor 0:10
Welcome to This Week in Hearing, where listeners find the latest information on hearing care. Hello, I’m Bob Traynor, your host for this episode, which actually could be called This Week in Balance. My guest today is a researcher from the Intermountain Precision Genomics group, a balance research group that is finding new hope for the 133 million Americans suffering from vertigo each year. Certainly, I want to welcome Dr. David Jones to our our discussion today. And thank you so much for being with us, David. Well, the first thing we’ll want to do is maybe you can give us an idea of how you got into vestibular research and, and working to find some interesting things that are, I think, outside the usual and customary area of vertigo and balance research.

David Jones 1:10
Yeah, well, thank you for having me, and I’m happy to talk about it. And I’ll start out by saying that, you know, we, we sort of stumbled into this area, but we stumbled into it in a prepared way, meaning, you know, you hear people say that success favors the prepared mind. And the project that really led us to this is one that we initiated about two years ago, which was to determine the genome and sequence the genetics of as many as 300,000 to 500,000 patients in our health care system. And we can use that information to find genes that cause people to have genetically predisposed problems. And we, the way that we discover those is we can look in medical records, for example, look at dizziness, look at vertigo, look at hearing loss. And we can say how many of the people that we have enrolled in our study looking at their whole genetic profile, also have hearing loss or also have vertigo. And in doing so we found a group of new genes that all are present in people that have reported to dizziness to their positions. And in pursuing those in more detail, we found what we call genetic variants in these genes that we now know, are underlying the dizziness in those specific patients. And that in turn has some relationship and importance to other areas of health, including hearing including vestibular research.

Bob Traynor 2:57
Wow. Let’s see here with the research, with the idea that 40% of the US population has some sort of vertigo, how can this type of research really help patients to seek treatment or for their particular vestibular issue?

David Jones 3:23
Well, so I think there there’s a number of different levels. First of all, it can be used to screen people who have these variants. And I think it’s worthwhile in a moment and talking about what I mean by a genetic variant. Because we can know early in their life, that they carry one of these variants, and therefore they are predisposed to having dizzy spells. And that can be incorporated into how you take care of those patients. Well, one of the ways that we do it now, which is a sort of wait and see what happens is, people go to the emergency room complaining of being dizzy. And the emergency room physicians, consider all of the possible reasons for being dizzy. That might include things like stroke or heart attack or other more life threatening illnesses. And they and they take care of those patients assuming the worst, and that that means that, you know, they put them through more tests, there’s more worried that those patients experience with a genetic test that was available in that situation in the future is our hope, we wouldn’t be able to say very quickly is that this person carries one of these variants for benign vertigo, meaning that it is not a life threatening stroke or a heart attack. But rather that person needs to be given guidance on how to deal with the dizziness that they’re feeling and can be referred to the appropriate care and for the appropriate follow up. And the other thing that it does is it opens the door to further research saying that here are a new set of genes that are important in and maintaining balance important and feeling dizzy, we will be able to find out by communicating broadly to the research community. And hearing experts will begin to discover a research these genes in more detail, it will teach us about how these genes work normally. So that we can think about ways of intervening with therapeutics, intervening with other measures that might help people further down the road. But at a minimum, we’ll be able to identify who needs this kind of care and advice early on in their life.

Bob Traynor 5:41
Wow, we’re, so this is more of a kind of the beginning of looking at not only the genetic component, but what we what that’s going to tell us about how to take care of patients, you know, over a period of time. And so so let’s say I have this particular gene, what kinds of things should I do? What should I do to try to keep from this balance issue becoming a bigger deal for me?

David Jones 6:14
Well, I think that the first thing I will say is, I can’t give specific advice on to any one individual, but you should absolutely, if you knew this, go to your doctor, say I have this, this is a gene that is predisposing to vertigo. And then I would imagine that those physicians would give whatever sort of state of the art advice for vertigo is, and that is, you know, how to take care of yourself and protect yourself from falling down when you feel that way, and go on. And so I think it’s really a way to get into what we would consider state of the art care for this area, and do so with some kind of firm knowledge of what at least the cause of the problem is. And then that may give at least some peace of mind to both the physician and to the patient about what the next steps need to be.

Bob Traynor 7:08
So it’s, it isn’t at this point where you can say, ‘Oh, looks like you have a gene that’s going to give you Meniere’s disease later on’. You have a gene that will give you some sort of positional dizziness later on. So it isn’t quite at that level yet.

David Jones 7:27
Well we don’t know where we are. So this is the very first stage of saying that we discovered these. There is there will be a lot of follow up research that needs to be done to say, does it lead to other more defined syndromes like Meniere’s disease. Or is it a new syndrome of dizziness? And how is it different from known diseases and problems? And so I can’t answer the question yet about whether these are predictive of specific known diseases that will emerge in someone’s lifetime. But it’s the starting point of being able to do that.

Bob Traynor 8:06
Wow, that, you know, I having, having worked with people that were, that had disequilibrium, doing a number of the old, the old ENGs, and then later on the VNGs. I know a lot of my colleagues that will be listening to us have done a lot of those as well, many times, you know, the ENTs are a little bit kind of nebulous about some of the things that are going on for, for obvious reasons, because they, they aren’t sure, well, this is you might say, well, this is a Meniere’s type syndrome. We don’t know exactly what that means. Hopefully this can kind of define some of those things, Dave.

David Jones 8:46
That’s exactly right. And so let me just take a minute, I like to explain what we mean by a genetic variant and why it’s important to know and you and you just I think you’ve just explained very well the likely impact of this. And that is, when I talk about a genetic variant, it when you think about that, what we’re really talking about is DNA that is present in every cell of a human body. And the DNA I think of or like to think of, as, as a cookbook, meaning that if you were to read through a cookbook, it would give you the recipe of making a human making every organ making every cell causing every function to work or not. And then I and then I think about what happens is, we have to make copies of this DNA in our bodies. And I imagine that if I one day wanted to copy my favorite cookbook, so I could give a copy of that to my daughter. I might make some mistakes in doing that. And you can imagine that if you made mistakes, and critical parts of a recipe where you were supposed to use half a cup of sugar, but instead you use five cups of sugar. The outcome of that recipe would be wrong, right? Well, it’s exactly the same way, when I talk about a genetic variant, it means that the sequence of DNA and this person is different from most everybody else in the population. And sometimes that different causes a big difference in the outcome of their health, just like using a five cups of sugar instead of half of cups of sugar. And so though these are these are, what these variants are, and what they do, and what they allow us to do, and we’ll do so more in the future is to do what you said is that if you have a, have a gene that you know, is sort of the underlying cause of a disease, at least, you know, and you don’t have to say, ‘Gee, I’m not really sure what the what the origin of this problem is’. And it’s not going to just be relevant to hearing or relevant to balance. It’s true of every disease that has a genetic component – cancer, heart disease, neurological diseases. We are in a time of healthcare, where we oftentimes wait for people to get sick, they come in, sometimes we have an answer. And sometimes we don’t. With genetic information, fast-forward 20 years from now, we will have at least answers to many more problems ahead of the time that the person walks into their clinic and say, This is a person that should be taken care of with the knowledge that they might have dizziness, they might have hearing problems, they might have cancer, they might get heart disease, they might have neurological conditions. And that is going to transform how we take care of patients, because we’ll start to think about treating their diseases before they are evident. and treating them with some with some deeper knowledge of what was causing them in the first place.

Bob Traynor 11:55
And by then, there may be some certain medications or something that we can use to facilitate some of those things, particularly if you can catch them early, rather than wait until they’re there they’ve got they’ve got vertigo, and they have to sit next to a wall, as we all know, or you know, keep them from having a problem when they’re driving or the various kinds of things that that I know, really affect people with balance issues.

David Jones 12:25
Yeah I mean, the interest of pharmaceutical companies right now. And the way that medicine is going is to develop what people would refer to as targeted therapies. And that means they want to know the precise underlying cause of any given disease before they want to sort of undertake a drug discovery or drug development effort in that area. Because they have better success if they know exactly what is causing the disease. And so by knowing that these variants exist, and this and other conditions, it will open the door for pharmaceutical companies and biotechnology companies to think about how does this mutation work? How does this variant work in the patients? And could we somehow intervene with a drug or some kind of diagnostic intervention to sort of change the course of this disease. And so in a way, it opens the door for those types of experts to really think about how they could develop new drugs and new therapies to make a difference in these patients lives.

Bob Traynor 13:31
So at this point, if somebody wanted to be part of your study, would they – How would they find you guys? And how would they, how would they become part of your studies and so on?

David Jones 13:47
Well, so the specific study that we are that we are doing that discovered these variants is called HerediGene. And that is a study where we enroll people mostly in the state of Utah, because that is where we’re located. We give the opportunity for people to donate blood and their DNA, with the idea that it’s going to be sequenced and included in this large dataset. And then we use that information to look for whatever types of disease causing genes we can we can find, and others right now, because we only just discovered the genes that are involved in vertigo we don’t have any other new clinical trials are studies that are open for patient enrollment, because we’re studying those in a different way. But there will be some next steps where these to start to look at whether or not for example, we could use these successfully to identify patients who complain of dizziness in the emergency room. That is where patients could enroll but in that situation, those patients would have to be ones that are coming into the emergency room on their own. And but those studies will open. And I would say that in the next five years or so, you’re likely to find more and more studies that are opening around this topic. And so I think what people can do right now is to try and stay informed as best they can. And know that in the future, there will be opportunities to help out with specific kinds of studies that are likely to come online.

Bob Traynor 15:25
Well, this is a fabulous discussion about something that is totally brand new, and, and has been a need within the ENT group as well as in audiology for quite some time. And it’s fabulous to see and, and what I understand is it just kind of an accidental discussion, or an accidental discovery of the particular genes for the, for the vertigo, and so on. That’s a that’s a way some of the best things have happened is that it’s an accidental kind of a thing, right?

David Jones 16:02
Yeah, that’s exactly right. I think history scientific history is sort of rich with fortuitous discoveries that made that really sort of transformed areas. I think, now that we know that this is an area that is dictated by genetic variants, we could do much more in depth studies where we specifically and deliberately tried to look for additional genes, and that is likely to happen. But at least in this instance, we use what we call an unbiased approach where we don’t necessarily tell the analysis, we’re looking for only cancer genes, or we’re only looking for dizziness genes, we sort of let the data take us to where it can take us today. And this is where it brought us in. And so as we enroll more and more people in our study, it will take us off into other areas as well. But this was sort of the interesting first stop that we made, analyzing our sort of first set of patients in this bigger study.

Bob Traynor 17:09
Fabulous. Well, I again, I want to thank Dr. David Jones for being with us on This Week in Hearing – or actually This Week in Vestibular. And thanks so much for being with us today and discussing your innovative and very beneficial research with us.

David Jones 17:34
Thanks for having me, Bob. I enjoyed being bring with you and I appreciate your interest. And I’m happy to be here.

Bob Traynor 17:43
It’s not just my interest. I can tell you that the ENT people as well as the audiology community are extremely interested in what your research is beginning to present. So again, thanks so much for being with us.