Advances in Care

The Genetic Detective: Solving the Mysteries of Genetic Disease

Episode 2
The Genetic Detective: Solving the Mysteries of Genetic Disease
The Genetic Detective: Solving the Mysteries of Genetic Disease

Molecular Geneticist Dr. Wendy Chung discusses her work in newborn genetic screening, finding a cure for spinal muscular atrophy, and the puzzle of the human genome.

Dr. Wendy Chung's childhood fascination with puzzles and mysteries gives her an edge when it comes to solving the mysteries of genetic diseases. In conversation with Host Catherine Price, Dr. Chung outlines her innovative work with The Human Genome project, her role in identifying the genes that cause spinal muscular atrophy and the collaborative efforts that went into developing life-sustaining treatments. Dr. Chung also discusses the GUARDIAN Program – which uses the newborn heel prick test to screen for a wide variety of genetic diseases, thereby providing equitable access to diagnosis and life-saving care to all infants. The views shared on this podcast solely reflect the expertise and experience of our guests. 


Catherine: Dr. Wendy Chung is a detective, of sorts. 


More formally, she calls herself a Clinical Molecular Geneticist, but the analogy tracks. Because Wendy Chung has dedicated her career to solving complex cases – the likes of which would leave Sherlock Holmes himself scratching his head. For over 20 years, she's been hunting to find the perpetrators, by which I mean genes -- that cause any number of genetic diseases. 

My name is Catherine Price, and this is Advances in Care. 


I was reading about Dr. Chung, and believe me when I tell you that the list of her achievements seems like it never ends. She began her career studying agricultural science, but after switching her focus to human genetics, she's made leaps forward in the understanding of everything from–  autism and metabolic disorders, to various cancers, and so much more. One article I read described her this way: “a triple threat” — a skilled clinician, ambitious researcher 


and gifted teacher." After talking with her, I can testify that this description is not an overstatement, whatsoever. Today on Advances in Care, that conversation. 


Catherine: Dr. Chung, thank you so much for joining us today.

Wendy: Thank you.

Catherine: So one thing we really wanna do with this podcast is to get a sense of people, not just in terms of their research, but as who they are as human beings and how they got to where they are and their research and their work. I was wondering if you can first tell me a bit about what you were like as a kid, what you were into, um, how you were or were not like the other kids.[Laughs]

Wendy: So, I mean, mostly I was like the other kids. I went to public high school, you know, with all the kids in my neighborhood. But, naturally my brain sort of thought in numbers and, and thought very logically. Math was especially easy for me and I was the type of kid that always liked puzzles as well and being able to solve mysteries. 

Catherine: And I've seen you described as a genetic sleuth, and I'm wondering if that resonates with you. It, it also seems like 


sleuthiness in general is a, is a trait of yours. [Laughs]

Wendy: [Laughs] Yes, I guess I, you know, if I hadn't been a medical geneticist, maybe I would've been a law enforcement, uh, detective or something. But, you know, I'd always be asking the why question, I guess is what I would say. So in the same way that you've got, you know, a three-year-old that's asking, you know, like, ‘mom, why is the sky blue?’ Um, you know, those types of things. But, I, I don't know. It just, it's the way my mind works. It's the way I think. Like I said, puzzles and being able to do logic puzzles was something that I always did as a kid. Uh, and it was always, you know, trying to figure out a mystery. And genetics to me has been like that. 

Catherine: Hmm. I was particularly interested in your experience with what was then the Westinghouse Science talent search, because I understand you won it!

Wendy: Well, I'll tell you one story that, uh, my dad probably won't forgive me for telling. But, uh, [laughs] so, um, my father, I think, thought that he should give me a goal. And so we came out with goals that I should have before I graduated. So one was to be valedictorian, one was to be a National Merit Scholar and one was to be the Westinghouse Science talent


search winner and If I could achieve all three of those, that trifecta, then he would get me a car. 

Catherine: Really! 

Wendy: And, and he thought he was agreeing to something that was so far out of reach, you know, that it just would never happen. So he thought he was safe in terms of doing that so. 

Catherine: What was your project for Westinghouse?

Wendy: Oh yeah! What did I do? Yeah, sure. So – the citrus industry, also farmers, uh, a big part of the Floridian economy. One of the things that kills the citrus industry, um, are insects that are laying eggs and then eventually larvae that are developing within the, the fruit and, you know, can kill crops and can be really devastating. And so within that spent a lot of days just observing. And in watching the fruit flies that were laying their eggs within those citrus fruit, it's very obvious that they had a keen sense of which fruit, uh, to lay their eggs into. 

Catherine: Hmm. Okay. 

Wendy: And looking to see what cues they were picking up on, being able to artificially construct a system and see whether or not I could isolate what it was, which was essentially a chemical coming from the fruit that they could detect. And so, you know, 


in retrospect, um, you know, was kind of neat for a high school student to do. It didn't take a fancy lab. I mean, I literally had a dust buster vacuum cleaner that I jerry rigged to be able to catch flies and set up a little video camera and set up a strainer for your, um, for your tea And I made these artificial fruit where I could put wax on it and see when the, they penetrated that, that wax. So all totally jerry rigged, homegrown type of stuff. But stuff that really, you know, was fun. Um, I know that sounds kind of geeky, but- 

Catherine: I think you're in a safe space with the geeky fun. That's fascinating though. I have many questions that I could get into about what this setup looked like And the dustbuster, I mean, that's, that's fantastic. 

Wendy: Yeah, so if you, if you go to the Archives of People Magazine, believe it or not, you can actually find documentation of this.

Catherine: All right. So you ended up winning, I mean, not just a finalist, you won the competition for that year. And you had this challenge with your father. I’m assuming you didn't think that you were gonna get all three of these things. –National Merit Scholar, Valedictorian, and win the Westinghouse – 


So do you remember the moment at which you're like, Hey dad, guess what? 

Wendy: Um, I did not hold my father to that, uh although at the time, I guess I could have. He’s since come back to me actually more recently and said “Wendy, I think I owe you a car.” Um but anyway, we just laugh and joke about that. I haven’t made him pay off on that. 

Catherine: [Laughs] Ok so as a part of Westinghouse, you and other finalists get to go up to DC. And I’m wondering what was it like to be around all these, presumably really smart, enthusiastic, uh, young, science geeks? [Laughs]

Wendy: No, It was fabulous. It was a really great experience in many ways. Number one, it paid for college, so that was really important. Um, and the second is that I got to meet a lot of really, good, smart people So, um, the, the one introduction, which was really pivotal for me is I got to meet a gentleman by the name of Seymour Kaufman, he was a biochemist and worked on, uh, one of the conditions that's been part of newborn screening since the very initiation of newborn screening. Eventually circled back, um,


looked him up when I was in college and looking for summer work, and said, I don't know if you remember me, but, uh, I was one of these high school students and by the way, I won. So I think you should take me into your lab, uh, and let me work with you. And, uh, he said, ‘Sure! If you were smart enough to win that, you're smart enough to come and work in my lab.’ 

Catherine: I love that. I feel like it’s the kind of thing we all wish we could say but don’t necessarily have the guts to. So – it sounds like you had this kinda unexpected trajectory where you won the WestingHouse with an agricultural science project, then that took you to DC, and then that ultimately led you into a lab of a biochemist which sorta gets you one step closer to molecular genetics. But I’m wondering, can you tell me how you finally fully made that transition?

Wendy: So I went to Cornell. I was still very good in mathematics, and in fact, remember very distinctly when my math professor said, you're really good at this. You should be a math major. And I said, oh, well, what do, what do math majors do when they get out of college? You know, what's your career like? And he said, oh, well, you can work in you know, 


in the insurance industry you can do actuarial work and you can, you know, figure out those tables of what people should be charged for their insurance. And I said, really? That's what, that's what you do with a math degree? And I said, I don't know. I don't think so. Let's try something else. So, um, continued on and, uh, when I took the genetics course, it really was what I described as a child in terms of those puzzles? They were just puzzles. It was just fun. I mean, you know, literally you were just figuring out the logic of things. And this was before we had the human genome, before we really understood genetics. But figuring out the flies and why they looked with curly wings or how many, uh, different veins they had on their wings or what their eyes looked like. It was all just a big puzzle. Um, but it was a puzzle that was very easy for me to solve, came very naturally. And with my biochemistry as well, putting those two together and then seeing how just the puzzle pieces fit together, but meant something. That it wasn't just doing it as a mental exercise or because, um, you know, it was something that you could sort of check a box and say that you figured it out, but it really meant something to someone. Um, it was that 


combination of things that, that made me realize that's what I wanted to do.

Catherine: I wanted to ask you about your involvement in the Human Genome Project and how that coincided or overlapped with your own training and how those two things kind of dovetailed. 

Wendy: Sure. I started out my combined MD PhD program in 1990, and that was the same time the Human Genome Project was officially launched, that it would be started. At the time I was not so savvy to understand exactly what people, what my professors were talking about, but they would say things like, oh my goodness, can you imagine how much money we're spending on this? It's going to be, you know, not just millions, but billions with a b. The concern was that's, this is like a Manhattan project that's just ridiculously expensive and it's taking money away from things that really matter, i.e. my research program. And so, uh, many people would, were skeptical that all this investment was actually going to be worthwhile. you know, what is that actually gonna tell us anyway? Or, or diseases really genetic and do genes really matter? Um, but there were all sorts of skeptics.


But this was an area that to me, was that great intersection of both science and medicine. Um, we'd be able to use it, not just to read out someone's code and figure out what color their eyes were, but what could we do in terms of improving health? And that was really the combination that that really just it, it all clicked.

Catherine: And well, it also seems like it worked out very well in terms of getting involved in a new area of research that has just obviously exploded, um, in the years since then. 

Wendy: Exactly. Wayne Gretzky said this first, but you should skate to where the puck is going to be. In other words, you should think forward. And, and that's been something that I think really is true and for any of you younger people, I'd recommend, um, is that it's easier to be a young person in a new field. Than to be a young person in a field where everyone else is already very well established. And so, you know, think forward to where things and opportunities are gonna be in the future. just let your mind wander and think about what could be. And as a young person especially, you've got more


opportunities in those areas.

Catherine: I think that's really interesting advice that I kinda wish I had heard when I was a kid. Fast-forwarding a bit – since you graduated, the Human Genome Project obviously did get pretty far, and you've been working to take it a step further and pinpoint genes associated with specific diseases. So can you give us a sense of the scope of, of what you've accomplished when it comes to this field? Am I correct that you and your team discovered connections between specific genes and over 60 conditions and 25 different genes that are associated with diseases?

Wendy: I have to say I lose track because every, you know, month or so, there's something new that comes up on the tally list. But yes, we've identified, um, many, many new genes for diseases. Everything from congenital heart disease, to pulmonary hypertension, to autism, to obesity. And as you're doing it, it's also very satisfying because you can be oftentimes, in my case, very definitive. You can be very confident in terms if you've actually,


 um, as I said, you can check off that box that you found the gene. It's the right gene, it explains what's going on. But yet, even though I used to be very, sort of satisfied that we could do that, um, I'm learning that things are so much more complicated than I originally appreciated. One gene that can map to multiple conditions, different variants in that same gene, resulting in very, very different manifestations through different mechanisms in terms of how those variants act in the body, what they do and, and what goes wrong. So I have to say I'm constantly learning and, and we have 20,000 genes in our body, but, um, there are many more, I think, diseases yet to be associated with those genes. We're only a small fraction of the way there to understanding the genome. 

Catherine: Yeah, so I want to talk about one of those more definitive discoveries -- one of your most compelling achievements is your work with Spinal Muscular Atrophy. So can you tell me about that?

Wendy: Yes. It’s really a devastating disease in the sense that, um, for many of the children born with this, over 50% of those with SMA 


have the most severe type of SMA. It used to be that these children oftentimes did not live to see their first birthday and basically never lived to see their second birthday. Um, it was the most common genetic cause of death for young children. 

Catherine: And what's the genetic mechanism?

Wendy: It is a complicated gene in the sense that there are two genes, uh, a tandem sort of duplication, and they can, to a certain extent, substitute for each other. They can, uh, be able to pick up, uh, if the number one gene isn't working or isn't present, the number two gene can compensate to a certain extent. And we saw a natural variation in people with that so that people would have different levels of severity depending on how many copies literally, copies of the SMN two gene they had. Both of those genes make a protein, the same protein called survival motor neuron. And it, that protein does exactly what it sounds like. without it, those motor neurons do not survive. They die and they lead to atrophy of the muscles. And it's a one-way street. Once those 


motor neurons die, they don't come back. And once those muscles atrophy, um, they don't come back. And so it's a progressive degenerative disease. It's heartbreaking because the babies that are born with this, um, for the vast majority of them, they look healthy and normal at birth. You can't tell them apart. They look strong, they look normal. their brains are fine. They think fine, but their muscles won't work and their muscles won't work to the point that their breathing muscles don't breath and so they literally cannot catch their breath and they die of suffocation. They die because they can't breathe. And it's really heartbreaking because like I said, you can imagine as a new parent, you have a baby that's perfectly normal and it just, it doesn't feel natural to bury your baby. Um, and with that, it, it's tragic because the condition is inherited in families, couples that is, that are at risk, they have a 25% chance of having another child that's affected with every pregnancy. So for some individuals, they haven't been struck by lightning once, but they've been struck by lightning multiple times. 

Catherine: That’s unbelievably horrible 


and totally devastating. 

Wendy: Yep.

Catherine: And so the first step was of course, to identify the genes that cause SMA, but then -- you and your peers wanted to find a way to treat it in infants who had those genes. I mean, out of curiosity -- why was that treatment piece of it so important to you?

Wendy: For me it always starts with the patient and ends with the patient. One other thing I'll say and, and I really wanna give credit for this because it's been a major part of my career. Family groups were really pivotal in this. And so I was just talking with Loren Eng this weekend. She's the president of the SMA foundation. And this is public information that Lauren would let me share, but Loren Eng's daughter, uh, Aria, um, has SMA. and it was her daughter who I've come to know and really admire that really was the inspiration, in terms of being able to think about what could be, um, not to take no for an answer that is that, you know, her daughter was going to be able to grow up and be strong and be healthy and be smart. To be able to envision a different future. So seeing her and, and knowing the impact that it had for her, 


and then subsequently several other families and unfortunately many of those children have since passed on. But those families are all very, very inspirational.

Catherine: So can you tell me about how you went about actually trying to identify a treatment for the disease?

Wendy: This was not something, certainly not that I did alone. This really started with Adrian Krainer who was thinking about this. Uh, was there a way to effectively co-opt the number two gene and make it work better? Supercharge it? Uh, cuz it wasn't working in, in normal people it doesn't work very well, uh, due to differences in what we call splicing. At the time, the, the part that I did play that was important, I think, was realizing that there might be medicines, uh, so-called, uh, oligonucleotides that could be delivered to where we have those motor neurons, uh, within the brain and the spinal cord. But we had to get in there before the atrophy started. We had to get in there before we lost the motor neurons. So timing was everything. Uh, and you couldn't wait for symptoms because by then it was too late. 


You know, I thought, we could take newborn screening. Um, we take a heel prick and take some blood spots, and we would take some of those dried blood spots and do the genetic testing for SMA. And based on that, we could identify the babies who were going to develop SMA before they had any symptoms. I'd known about this all along in terms of the public health infrastructure that was available to screen newborns.

Catherine: Okay. In other words, you knew that there were ways in which newborns were being screened for genetically related diseases?

Wendy: Exactly, and so even though this is a completely different disease, the infrastructure, the public health system to be able to screen newborns was in place. And the question became, could you use that and piggyback on something else, something different? So in 2016 was when we started our version of the newborn screening. Um, we developed a technology which was incredibly inexpensive in collaboration with the New York State Department of Health. Um, we did take those dried blood spots for 21 cents per baby. 


We were able to do the screening test, so we were able to do it on scale very inexpensively. We were able to demonstrate that of families offered the screening test, 93% of them said, yep, sign me up. I think this is a good idea.

Catherine: That's amazing. 93%.

Wendy: And so we offered this opportunity as a research study. People didn't have to do it, but we offered this research opportunity to parents whose babies were just born and they were gonna get newborn screening anyway. And we said, would you like to do this extra one? It doesn't cost anything. Um, and you know, there's a clinical trial so that if your baby is going to have this condition, maybe they would benefit from that trial. In fact, within literally the first eight weeks that we started the screening program, identified, uh, I'll never forget, um, a little girl whose parents, uh, they're individuals who hadn't had any experience with SMA. They were very young parents. And uh, just based on how people navigate our healthcare system, it's very likely that either she would not have been diagnosed before she died or would not have been diagnosed until, uh, the time 


when the effectiveness of treatment would've passed. Um, but instead she was diagnosed within two weeks of life, uh, with the newborn screening test. We literally, I remember so distinctly got her in that afternoon in terms of being able to see the neurologist and hear about this clinical trial for the ASO for SMA. Um, her parents, her grandparents heard all about that and knowing that this was otherwise a death sentence because she would've had type one SMA are the most severe type, um, said yes, uh, let's try it. And, and she is now happy, healthy, running around like a mad first grader, um, you know, thriving. 

Catherine: She must be what, like seven, seven or so years old now? 

Wendy: Yeah. She's, uh, not quite, in fact her birthday's just coming up, but she's just six and change. And, um, you know, like I said, healthy, um, has continued to have what we call durable effectiveness. So in other words, the treatment has continued to work for her. And that became the beginning because it was demonstrated that we could do the screening. 


It demonstrated it made a difference, it saved her life. Parents agreed to it and we could do it on scale. It wasn't gonna blow the, you know, the bank accounts in terms of being able to do the testing. It really, you know, it still engendered a lot of discussion and, and that's good, discussion is healthy. Um, but it was agreed that that should move forward. 

Catherine: It seems, there's two parts to this, not many parts of the challenge, but two main parts is being able to screen, in this case, newborns for conditions, and then also make sure that you have something that can be done about it if they end up with a positive result. 

Wendy: Yeah, and it was very intentional. My strategy at the time was this needed to be a one-two punch. And what I mean by that is we had to have diagnostics and the hope of therapeutics, and they really worked synergistically together because if we couldn't diagnose babies early, the treatment wouldn't work. And if we, the treatment wouldn't work, why would you diagnose the babies early? And so these really needed to come forward together in parallel. And so even though I'd conceptually thought about newborn screening even well before that,


 I didn't pull the trigger, if you will, in terms of doing it until we knew we had something to offer.

Catherine: There was a drug, what was it, Spinraza, I believe it is, was that 2016 as well, that you actually had the ability to treat?

Wendy: That's exactly right. 

Catherine: That makes so much sense.

Wendy: And that was my Christmas present that year! 

Catherine: Oh really? Tell me about that.

Wendy: So that was when the FDA announced that this was gonna be FDA approved, it was added to the recommended universal screening panel. Thanks to a lot of hard work from the SMA Foundation, Cure SMA. Um, this is almost now done in all 50 states and the district in terms of screening. And now we have not just one, but three FDA-approved medications, including gene therapy, which I, I like to call a one and done treatment. So right after those babies are identified, they get an IV infusion into the vein. We squirt in the gene that's missing, and that goes directly to the motor neurons where it's needed and I can't say it's perfect and it's not always perfect for everyone, but it's, it does a pretty good job.

Catherine: I mean, what would you have, what would Wendy Chung 


of 1990 thought about that story? I mean, that's just nuts.

Wendy: So that would've been mind blowing for me. Right. I wouldn't have thought that you could do exactly that. 

Catherine: Which leads me to want to ask you about the Guardian Project that you are working on. If you can tell me what that is, how it works, and what excites you about it and how it came to be.

Wendy: Yep. So, um, SMA was the first of the newborn screenings pilot studies for me. We then, after that, did, uh, Duchenne Muscular Dystrophy but, I have to say, I thought to myself, boy, doing these one by one, this is an awful lot of work. Can't we figure out scale? I'm all about scale right now, so can't we figure out a way to scale this? And so the next question to me became, well, the enabling technology now is sequencing. If we could use DNA sequencing and from that dried blood spot, Literally a couple drops of blood. We can sequence the genome of a baby to be able to look at whatever we need to. Um, we don't necessarily need to look at everything. I'll underscore that. Um, but the news we can use. 


And we can define that news, we can use and we do in the Guardian study as about 250 conditions for genetic conditions that are early onset. We see them by the age of five in children with great certainty. We know these babies are going to be, uh, sick with these things, uh, but with something we can do, there is news that we can use. There is something that we can offer them that could be life-saving, or at least life-altering in terms of being able to spare them of disabilities. And so, um, in the same way that we'd done the SMA studies, the Duchenne studies, uh, we offered the same option to parents. We've been doing this now, um, for almost half a year. And as we've done this now or just over the thousandth baby. I think in a very thoughtful way, parents are considering whether or not they want to do this, and, uh, not everyone wants to do this. It ends up being about 75% of parents say, yeah, if I can take, use this information to have a healthier baby, to make sure that as a parent I have more of the tools I can to protect my child and to help raise them in a healthy way. Give me that information. 


Catherine: I mean, I think it's just really interesting to think about the point you just made that everyone's born and they're mostly born in hospitals and they get the heel prick. So if you can intervene in that moment, then you really could have a, I mean, a potentially life-saving effect on, on these babies' trajectories.

Wendy: Exactly. Newborn screening is completely equitable. That is no baby is left behind. Every baby has the same opportunity to participate, the same access to that information. And beyond that, I wanna make sure it's not just the same access to a diagnosis, but the same access to care once that diagnosis is established. And so that's what we're doing in Guardian, is to make sure we leave no one behind. 

Catherine: I was wondering if you can give us an example of maybe there's a specific baby or a patient you remember who received a treatment as a result of the Guardian study that then has had an impact on their future.

Wendy: Yes, so we diagnosed a baby with a condition called Wilson's Disease, which is not something most people have heard about, and there's no reason they should have. It's a problem with copper overload. I've personally had patients with Wilson's disease 


that came to me in liver failure, disease so severe that they needed a liver transplant, and at the time were not quite, um, clear in their thinking because the copper had accumulated - had accumulated in their brain, in their eyes, in their liver, and it was very destructive, caused problems in terms of their body function. Um, uh, on the other hand, by diagnosing this in a newborn as we have, um, it's very easy to treat. In this case, believe it or not, you can take some added zinc in your diet and by adding the zinc, it actually competes with the copper absorption so that you never get copper overloaded. And zinc, you may not think about this, but zinc is pretty cheap and it's pretty available, and by doing that and knowing about it early, you avoid all of that heartache down the road. Um, but you gotta know, right? My point is that the conditions we're screening for are news you can use in that way. Simple solution, very acceptable, very cost effective in terms of doing this. Very bad problems if you don't do something about it. But if you do? 


That's great. I mean, you know, no, no long-term disabilities, no long-term problems with insurance or anything like that. Just take care of it. As my son would say, easy peasy lemon squeezy.

Catherine: Just eat some zinc. Easy peasy. 

Wendy: Exactly right. There's just something about closure and being able to kind of check that off in terms of, um, you know, something that you've achieved in a goal just is very satisfying. And genetics is an area in particular where sometimes you can do that, not all the time. That sometimes takes decades to do. Uh, and so I can still remember patients that I saw more than 20 years ago, and it's only been, you know, within the last year or two for some of them, that I've been able to check that box and say, yes, we finally figured out what it was that you had. So for some individuals you have to be patient, um, and being patient as the science and the technology allows you to answer the questions you've always had, but maybe not had the tools to be able to answer. So I'm patient. No, that's one thing about me.

Catherine: Hmm, patient and curious. So what are the 


specific challenge areas that still remain? What are you hoping to achieve in the future that you can't do now?

Wendy: Sure, I think for understandable reasons, I think a lot of people in the public, you know, the thinking is, oh, you identify a gene and then you just fix it. Right. You know, you're a, you're a geneticist. Just fix it. You know, do a little erase and then write in, or, you know, do a little gene surgery and clip out and fix it. Um, and I hope someday that'll be possible for some genetic conditions, but that, that gap or that time between diagnosis or gene identification and then gene fixing, we're still, we need to narrow that gap. That's, that's our next big thing. And beyond that I mean, I'll be very honest, right? So we've had, within the gene therapy space, we've had deaths of, uh, young people… so people who have been incredibly brave pioneers who have been the first out, uh, where we didn't know what was going to happen. And, uh, unfortunately it hasn't always been good. Um, I am optimistic though that we're being more cautious in terms of safety and more successful in terms of some 


of the things that we can do and, um, even in some cases, you know, developing treatments for one single person, for one single condition. Um, and it doesn't always work, but sometimes it does. I do think the field for us is gonna be what I - math- I'll go back to my mathematics, uh, described as a step function, where it's not as if there are incremental improvements on a sort of day by day or year by year basis, but they're gonna be enabling technologies, breakthrough technologies, that once we solve critical questions, all of a sudden it's not just gonna be one condition we that we can treat. But at least dozens of conditions that we can use the same technology for and the same solutions for. The field still has some critical problems to solve, but um, knowing behind the scenes there's a lot of smart people with a lot of good ideas, but I am very optimistic in the next 10 years, uh, that we're gonna have a lot of solutions for genetic conditions.

Catherine: I’m kind of assuming that unlocking that next step in the step function is going to have to do with data and just having a wide variety of diverse 


genetic data to analyze. Is that right?

Wendy: Yep, exactly. So, uh, New York City. The wonderful thing about us is we represent the world. We have such diversity, such amazingly wonderful, rich diversity. We literally are like the entire globe boiled down into, you know, not too many square miles. But with that, that genetic variation means is not trivial. And so that's part of our learning curve and, it's a steep learning curve, but we're learning quickly. And with this, uh, the goal when we reach hopefully a hundred thousand babies, uh, that are really nicely representative of the world's population, is that what we do here in New York will be applicable really to the world, that we'll be able to take those lessons learned for everyone. 

Catherine: That is just such a wonderfully inspiring vision. I can't wait to see what happens.


Catherine: Well thank you so, so, so much for taking the time to speak with me I could speak to you all day. I have so many more questions, but it's been a real honor to get to learn about your work and your research. So thank you.

Wendy: Oh, it's been fun. Thank you. 

Catherine: I’m Catherine Price. 


Since we recorded this episode, Dr. Chung has announced she’ll soon become the Chief of Pediatrics at Boston Children’s Hospital. But the conversation we had is an incredible testament to her two decades of groundbreaking work at NewYork-Presbyterian and Columbia. 

Advances in Care is a production of New York Presbyterian Hospital. To find out more amazing stories about the pioneering physicians at New York Presbyterian, go to