From Noise to Sound

#Prof.Dr.Dr.Jana Pachlopnik - From Dream into Discovery: unveiling new diseases to improve patients' lives.

Dimitrios Marinos Season 1 Episode 6

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In this episode of From Noise to Sound, I speak with Professor Dr. Jana Pachlopnik, a leading expert in pediatric immunology at the University of Zurich. With 7,000 citations and a dedicated research lab, she has significantly contributed to understanding genetic disorders in children's immune systems.

Jana shares her passion for discovering new diseases and developing targeted treatments for children with genetic immune deficiencies. She explains the unique challenges of pediatric immunology, highlighting how inherited conditions often manifest more severely in children than in adults. We also explore how next-generation sequencing has transformed disease detection and treatment.

As head of a multidisciplinary unit integrating clinical care, diagnostics, and research, Jana discusses how these fields work together to improve patient outcomes. She describes her collaborations with startups, which help translate scientific research into real-world therapies for rare immune disorders.

Our conversation also touches on the emotional challenges of her work. Jana candidly shares her experiences with frustration, resilience, and the human side of medicine. She emphasizes the importance of mentorship, fostering the next generation of medical professionals with empathy and interpersonal skills.

We discuss how technology, including AI, is shaping medical education and healthcare, but Jana advocates for balancing innovation with the irreplaceable human touch. She also reflects on the evolving definition of success in medicine, stressing accessibility and personal fulfillment.

The episode ends with inspiring patient stories, illustrating how targeted therapies transform lives. Jana’s commitment to discovery and innovation continues to push the boundaries of pediatric immunology, making a lasting impact on children's health.

This episode blends science and humanity, offering listeners an insightful look into the world of pediatric medicine.

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[0:06] My dream is to discover novel diseases, or discover diseases that have not been discovered yet. And I'm lucky enough, I have discovered some of them, but it's my absolute goal

[0:21] and dream to discover more of them. Hello and welcome to the podcast from Noise to Sound, presented from Hochschule Luzern. I'm Dimitrios Marinos, and I had in the past numerous podcasts already done, and I have some which are already not presented. But this one is very special and personally also to me. Together with me, she's a very interesting person. She's a professor in child immunology at the University of Zurich. She has around 7,000 citations. Her work is the basis of work for others around the globe on her domain. And she has a lab on her name. So I'm very much excited to deep dive together with you and listen to her story and perhaps get a little bit more inspiration also for what she's doing on her daily work, but also how is she as a person. So let's dive on this one together.

[1:25] Music.

[1:32] Welcome, Professor Dr. Dr. Jana Pahlubnik. Hi, Jana. Hi, Dimi. I'm really, really excited that you're here today. It was a session that I was really looking forward for. As I mentioned in my intro, you have a background you're doing in child immunology. You're a professor in the University of Zurich. So for me, the first logical question is, what is your domain exactly? What is something that you focus so much with your team in your lab? And it's very relevant to us mere humans.

[2:08] So thank you for having me here. It's a real pleasure. And I'm really looking forward to this discussion. My main topic is pediatric immunology. So we are interested to provide children with genetic errors of the immune system, so they lack or they have a part of the immune system that doesn't function, to provide them with the best targeted treatment.

[2:40] But question for me, is it all some, I mean, of course, I'm not a doctor, but I'm allowed to make some silly questions today on this segment for sure. So, for me, is it so much different, pediatric immunology to, let's say, adult immunology?

[2:58] Yes, I think so, because... We focus on inborn errors, so something that is inherited, the child is born with. And usually in childhood, if the disease already shows in childhood, it means that it's a very severe one. Okay.

[3:20] So in your experience, how far are we on such, let's say, anomalies or errors, as you mentioned, by birth? Or, I mean, something that happens in children in terms of immunology, in terms of medicine today, let's say, or where do you think this journey of correcting those, quote, errors is going to be?

[3:47] So I don't know where we are, but I have realized that we made some huge steps, or not we, but the community, in detecting genetic diseases. There is or was a huge step with this next generation sequencing by the fact that we are able to sequence the whole genome of a person. And this made a real difference. But now it comes our task to translate this into knowing what the gene does and how we can treat or even cure the disease.

[4:36] So how much, I mean, you're doing a lot of work in your lab. I mean, as I noticed in the internet, you have a lab with your name, which is actually very, very, I mean, it shows how eminent, also how central your work is also for the university as well. First of all, also for your team, I would say, it shows that this is something

[4:55] which is really targeted for the work that you're doing. But how much, I mean, I don't know, but I would guess one side, of course, is the research that you do with your team and the one side and the other side is a little bit the pharma part. I mean, you're doing all the work that someone finds and detects the errors and anomalies, but then you need the hand of pharma. Mm-hmm. To give you the tools and production-ready medicine. So how is this link actually works?

[5:23] So maybe a step back. So the unit I'm like the head of is based on three pillars. One is the clinic. The second is the diagnostic lab, which is also eminently important. And the third is the research lab. And all these three units together are interlinked, and it's very important that we work closely together.

[5:51] And the other part, how can we translate something that we find in research, or how can we get it back to the patient, so from the bench to the bedside? And I was lucky enough that with something I had done during my PhD, I could follow this path really very closely. I have done some experiments with mice and realized that something that we detected there could be used in humans. And I was Googling whether there is a pharma company producing this compound. And we found a startup in Switzerland.

[6:46] And contacted them and asked them whether we could use their product for our rare immunodeficiency. And it was very nice to see how this then developed actually without us being very active anymore but they took it and it was like a model disease for them to show that their compound has activity. So you approach the startup instead of vice versa. Usually it's vice versa. The startups have something that they feel is the sexiest thing in the world and they come to the researchers or the hospitals to prove it.

[7:29] So actually, actually it would be a good idea if we lost the startup. Now that you give it as a hint. But for me, it's also...

[7:38] Have you been ever frustrated in this research part? I mean, you have the clinical part, so you have, let's say, the real image, what's happening out inside the hospital, what comes in as patients, and your work, which is a bit more isolated, let's say, isolated. I don't like the word, but someone a little bit closer inside the lab. Have you ever been, I mean, everyone who's done research has been frustrated, for myself at least. And how do you move on with it? I mean, with your team, because she's not alone. I mean, we're not in these times anymore. So how do you wake up in the morning and say, although it's hard, it's difficult, the team is frustrated, we don't move on, but this thing exists somehow, you have a gut feeling. How do you move on there?

[8:27] I don't know. I hear from people that I am like this Duracell. The battery. I mean, I get something sometimes frustrated. That's true. But I think when you are at the bottom, then there is ground and you can use it to jump up again. Yeah, that's for sure. I mean, in the research, you are in bottom.

[8:52] There's nothing. You have a foundation, nothing more. And you prove you can jump. Yeah, but this is really, really interesting on one side. I wanted to ask you a little bit about, I mean, you have definitely some trends, right? So you've spoken about children immunology. This is your fact. So, I mean, we are now in 2025.

[9:14] Have you seen a strange development on children immunology, let's say, over 100 years or something that changed over the course of years for some particular reason? So it's maybe not our domain of focus because we are really focusing on genetic diseases it's true that behavior will have an influence but it's more the behavior of consanguineous marriages so people when they when they marry between cousins then of course they have more, inherited disease or the risk that there is an inherited disease is bigger than in other marriages. I would assume that in 2025 we have less on these cases than we had 50 years before. I don't know. Honestly, there are regions in the world where this is still common practice because of cultural reasons. I would think so, but this definitely wouldn't cross my mind in 2025. Nevertheless. Nevertheless, but I think...

[10:20] I mean, to inherit something, let's say, to the children, one side is genetics, but one other side is, let's say, peers or elder or the parents had a different type of lifestyle. How much lifestyle comes to genetics in order to be inherited to the children? For example, if I was drinking a lot, smoking a lot, I don't know, abusing myself a lot in these terms. How much of that would have an impact, let's say, in genetics for my children? Probably not the expert to answer this question, honestly. Of course, the environment does something to the genes, but it's not my area of expertise. I'm sorry. No worries, no worries. I'm just thinking a bit loud on this because this is a teaser that we get from the media, you know, usually, I mean, take care of the lifestyle so that everyone is safe in these practices.

[11:24] So in one side, I think if you think a little bit on the child immunology, let's say itself, so you have a child that's inherited something. So now you're, let's say, in your research trying to find out, first of all, what was this?

[11:45] Have you noticed, let's say, from your research, patterns that make you think that, for example, things change, let's say, in genes or that things that are inherited are more frequently than I was expecting or we have seen before in the research?

[12:06] I was just thinking back what you asked of the influence of the environment. So I think what our area of interest are extreme cases. So if you imagine a Gaussian distribution of a reaction, so we would probably with a, let's say, normal immune system would be somewhere in the middle. So our immune system reacts as a lot of other immune systems do. And then there are people who are at the extremes of this Gaussian distribution. And we learn from those ones what happens because they do have something that is completely lacking and by this we learn the function of this, actually by reversion. If this is lacking, then this leads to hyperinflammation or increased susceptibility to infection or increased susceptibility to cancer. And we can then... From this, they use what this means for a normal immune system. Because the normal immune system there, the environment has much more influence because it's like in balance and it's a network. And if you influence this, then it will just change as a network.

[13:34] Yeah, I think also in these terms, how positive, or let's say, I mean, if you have to be positive, otherwise you wouldn't do this job, I would say, as a doctor, let's say. But going back to that, when you have some genetic change as a child or this happens,

[13:55] I mean, I'm not deep into the research, but we usually read also in the media and the news that there will be medicines that are very much tailored to your genetics and the child genetics. And that will, let's say, correct the errors or even avoid later on, let's say, if something evolves in terms of cancer, it will help later on. So how positive you are on that, because that would be a very big thing. Oh, yes. I think that's really the future, because now we are working with these extremes where there is a complete lack of something. But what we all have, everybody has changes or things that, variants in the genetic landscape. And I think it's then important to look at the combination of these different variants and this will then give...

[14:52] As a result, the behavior, or at least a part of the behavior of the immune system, so the combination of these different variants, I think there we are really at the beginning of understanding. We are maybe strong if we have one gene, but the combination of different ones, I would say we are quite at the beginning. At the beginning, okay. I had the feeling from what one reads that we are not at the beginning, not in the end, of course, at the same time.

[15:27] And on the same time, this type of research, this time, these things to be released, production ready, it requires a lot of effort, one side. And I would also say a lot of money from the farmers, from the governments, perhaps something more holistic in this term. So it's not that easy, even if someone starts. And it needs some brains as well. Oh, now you're picking up something which is really interesting to me.

[15:56] So we were discussing before starting the podcast about the students, let's say. Maybe you're teaching also in the university as well, in Zurich. So there is a lot of interest from students to study medicine. Not everyone makes it on one side. on the other side, like in every study, let's say, as you mentioned, there's a Gaussian bell there as well. There's the students that are good somehow, and they take their certificates and their doctors on the end or engineers at the end. But there's some people on the sides. I mean, this one side, of course, that didn't manage, and on the other side, the brains. How often do you think we have this amount of, let's say, capacity in order to drive such things? Or do you count on AI, let's say? Let me be a little bit more provocative.

[16:55] I think we live and we use computers not as a part of our body, but somehow we cohabitate with them. I would argue, I mean, if you see this in young generations, I would say it might be a part of our body.

[17:11] So I think let's use them. We have them. And I think it's important to use them. But I think also for a doctor or a medical doctor, you are this and you use the whole of your body. It's not only your thoughts and what you have memorized during your studies, but it's what you feel, how you feel the patient when you touch him or her. What's the smell? What's the emotional vibes around? So as a doctor, you need to capture all of this. Well i think that happens mostly i would say in your field let's say you need that i mean if you're not a people's person it's you're not never going to have this skill right i mean if you're an engineer writing code behind the pc if you feel the vibe of yes or not probably doesn't really matter that much but if you're a doctor as you mentioned that is very relevant so for me also So the point is, I mean,

[18:21] studies is one thing, I mean, and the other is the interpersonal. So have you, do you teach that as well? I mean, do you try to provoke people? Because some, I could assume, the brains usually are very introverts, right? So, or, I'm not so excited. Yeah, sometimes. Yeah, sometimes.

[18:40] Do you try also to... So that this side of medicine, this side in your work is so relevant. Yeah, it's absolutely needed. I mean, you need to cultivate this also. I mean, it's your profession. It's your profession. It's what I told you. We have groups of six students where we show them that's how you have to touch the patient. This cannot be done in an auditorium with 200 people. You really have to show this one by one. Definitely not over Zoom. no not for Zoom yeah I could assume but I also think that medicine is a very interesting way of, an interesting.

[19:30] Curriculum because at the end of the studies you do have a profession that's one thing then you can do this.

[19:42] At least at a lot of places in this world. And there is a huge spectrum of what you can do. I mean, you can study mummies and you can do pediatrics. You can study medical history. I mean, it's really, really very, very broad. So I think even for someone who realizes during the studies, It's not my thing to touch patients. There are a lot of other things. And yeah, also the computer stuff and AI and bioinformatics, all of this comes more and more. And it still needs also medical knowledge. Of course, I would argue also, I mean, I'm coming from IT, I would argue that you can take it out. I mean, you can be faster. But I would argue that it's definitely not something yet you can replace people, let's say, in that one. Because the human interaction is what it makes. I mean, I may remember a little bit of my personal story when I came to the hospital and had my son screaming around. And you were really focused. I mean, this is laser focused. So I said, I was thinking to myself, if I was at her position, I wouldn't be able to think

[21:01] because you have someone crying one side and one other. So someone has to think and be professional.

[21:08] So how do you manage this kind of stress? I mean, this is also for me very interesting. And you have, you spoke about these three pillars. I mean, the research, the university and the clinic. So when going back to clinic a little bit.

[21:21] So there's a lot of stress. You see a lot of cases. someone's is easier to manage and someone not very easy to manage so how do you manage the psychological burden and the stress when this thing i'm because one of the things when i'm thinking about about your profession is exactly like the psychological burden and the stress that comes from real situations not like i have a problem with my boss because the numbers are not right here you have humans behind how do you manage that well i don't know i it's what i realized i always thought you're not as good in pediatrics if you don't have own kids but i realized it's completely different it's absolutely the contrary or it was in my case um when i um had my son um i was so emotional about everything what was going on in clinics i mean and that i then realized come on it doesn't help anybody if you're just freaking out because uh a child is not doing well and because you're so um attached yeah yeah it needs a bit yeah it needs It's a professional, not distance.

[22:36] It's another approach. It's not... I would say experience. It comes with a time, as we say. I mean, if you're a young doctor after two years of medical,

[22:46] I mean, it's obvious that it will be in your skin, let's say, somehow. And it also...

[22:52] What helps is to see role models, how others act in these stressful situations, and then you just copy them, and then you realize, okay, this feels somehow okay-ish. What was your role model then? Oh, I have several ones. I have seen doctors in my life where I think, wow, that's just amazing. This person is just amazing. In terms of knowledge or? Everything. The holistic, yeah, yeah. They know a lot. They know how to talk to people. They know how to behave. They are really in their element. They are so passionate about.

[23:32] Well, that's. Yeah, I mean, that's really nice. That's nice and rare, I would say, not only for your, I mean, at least your sector is something that you see more often than other sectors because you know the burden of studying medicine. It's not like I'm studying two, three years and I'll have a degree. You know, it's a long journey. so if you don't like it it's not going to work long term so you we you mean you see people that like their their work a lot more and uh things i think this is something that i've really noticed let's say the last last years as well and that's that's nice to see that people have this empathy and they develop this empathy and although the situations are difficult you keep this professionalism as you mentioned on the tough times so when i go

[24:17] a little bit back to to jana as a person right so what's why are you standing in the morning from bed i mean what motivates you i mean what i mean of course the clinical side i mean you're helping people i understand all that but i mean being there done that now what motivates what's the next thing what motivates you to keep on moving because you have to study you have to be on top of what you do i must confess a bit i'm not standing up in the morning to help anybody honestly i think.

[24:53] One should remain egoist in a good way only do things if it's your intrinsic motivation to do it not because you want to have something back but because you like to do it and i think that's super important for everybody that reflects also in your work i would say i mean you wouldn't be that far i mean in the same time i mean you have a team which is engaged as i've seen at least.

[25:21] And you are you should or you are for them be the role model as you had others i mean it's it's not that it's not that common i mean if you reach your level

[25:31] as in any case but for me it's also.

[25:36] How do you see, how do you train the next generation? I mean.

[25:39] How do you, let's say when you are in the university or you're in a clinic or you're in a research, how do you feel, okay, I mean, I spot some talent here.

[25:50] I mean, of course, you try to, I mean, if you're teaching, let's say you try to have everyone equal, but some of the times it is unfair also if you're something which is an outlier, let's say, and you say, now this person, I can take this person to the next level. How do you do that? Or do you do that? Oh, I was lucky enough that these persons approached me. I have several students now already who, let's say, after a lecture or after a course just came to me and said, that's what I want to do. And then I think, yes, okay, then come.

[26:31] And that's actually, it speaks for itself, because that's also a thing, right? You have to have it in your personality because you do three things. I mean, a researcher can be dry, but a professor, let's say, cannot be. I mean, you have to be engaging. I mean, you can be very good on your profession, on the underline, but not being able to teach very, very, and then bring the knowledge to the students. I don't know. I just try to show what drives me. I try to sparkle what is so fascinating for me. And that's driving me already since ever.

[27:12] I think it's fascinating to see this gene change. Codes for this protein and this happens then on the level of the organism if it is lacking, and by reversion this tells us this is the function of this protein i mean i don't know yeah no but i mean i can speak also let's say for my i mean i'm not so in medical experience but my personal experience i mean we think of proteins as something like it really basic and can have a very severe sometimes,

[27:46] or it can have also an impact. I mean, a small protein that we just think, this protein is not something very complex, let's say, from us, from, you know, the mere humans, how much impact can have, let's say, in the quality of life of a person, in its development when we talk about children, and also really, I mean, we are in 2025, just for a person today to explore its full potential, just from a protein. Yeah.

[28:21] No, I mean, I'm just trying to stretch it a little bit, but I think it's not that trivial also. I mean, what you do, I'm seeing just finding the protein and reversing it or really trying to find the mechanism to cope with it. It's really about quality of life, isn't it? Oh, yes, it is. I have experienced the first patients who were given these biotherapies and who had been suffering for years and years. And they just told me, hey, I think the sun is going up for me the first time in my life. And it's so beautiful because it really can change if you target the right sun.

[29:03] Um pathway then it can really change the life because it's yeah they get just fit just much better no much better it happens as i mentioned it's quite of life and you take new shots for life let's say i mean if you have difficulties you're feeling tired or whatever or you have fevers i mean it's something you're very much researching on it i'm saying it very generic sorry for that as i mentioned i'm not a doctor but uh for me it's also interesting i was very critical before my case i was very critical on on those research and now

[29:40] you know all this medical the medicines are too expensive why should be so expensive i understand it from the business side but on the same side until i realized yes these cases that you are actually as you mentioned in this Gaussian bell checking the extremes or the very much the ones which are very rare. If you get in this situation, you're happy that it exists in any case, right? So what's your view on that in terms of the pharmaceuticals part of things? And not only this, it's on the solution side of things, you know?

[30:16] It just…, It might be that this disease is very rare, so in less than 1% or less than 0,01% of people. But if you have it, you have it 100%. That's what we say.

[30:37] That actually makes a lot of sense. Because actually, if it comes to you, it comes to you. And I think there's never, as I realized it for myself, there's never one case. So you have, I mean, in my case, the medicine was more or less very much, you could use it for other reasons. It just happens to be something that fits. And at the same time, so I think it might be a little bit of one size fit a little bit more. No, but I think that that's a very nice example of how rare disease can help also for other things. I mean the medication has been developed for a rare disease because it has been seen that yes we have to intervene here in this pathway and now it can be used also for other diseases which are in the same pathway somehow maybe milder but yeah I think this is a really nice example. Yeah. I mean, it's very interesting to me because I think, I thought for myself, these things will happen.

[31:47] To do their lifestyles, this will always start to become more. But I think technology there will help technology. I'm not meaning of AI, but this targeted medicine, let's say that if you have a basis and know where the problem is through research like you do, then the people in the pharmaceuticals can find a way with the right tools to do it.

[32:09] To cure that but um um what i just going i mean a little bit back again to you um.

[32:19] What would make you, let's say, excited to see, you know, this is what I discovered now? I mean, if we put, let's say, if we had to put a label on something, I mean, I would like to find that. I would like to know that. What would it be? I mean, I know it's a little bit stupid question, but it's a little bit on the research side. I'm researching somebody. I would really like to find that.

[32:44] So, my dream is… That's the question. To discover novel diseases or discover diseases that have not been discovered yet. And I'm lucky enough, I have discovered some of them, but it's my absolute goal and dream to discover more of them. Perfect. I mean, that's what I was looking for, more or less. But I think you and your team are doing a great job in these terms, and I think the system supports you there a lot. Oh, yes. um now just a question for me i mean you're you studied a lot um and um have you ever noticed let's say now you're i'm i mean there is a lot of discussion uh about any accessibility problems in terms of how tough was

[33:34] for you this research world as a woman let's say or it wasn't as much I mean, because I remember, let's say, years past that has been an issue. I mean, if you go even further down the road with Marie Curie, even more, which is a brilliant example. But have you noticed, let's say, or have you ever been felt like an outlier?

[33:58] So I had also role models in my family. So my mother, my grandmother, or grandmothers, they all were working. So I think that's one important thing in my life. And then the other one is men who are feminists. My father always said, I'm a feminist. And I'm lucky enough that my husband is also very, very supportive. I mean, without that, it would not have been possible to do a career like that. Absolutely. But as a question perhaps reflected from my side, I mean, I've written also in your profile and everything, I mean, I have a migration background.

[34:46] So I've studied a lot, painfully a lot, and tried my best to integrate, but also to reach, to grow. I mean, you do the extra mile. And this is a little bit bounded sometimes in your psyche, let's say. And I mean seeing a little bit your background as well having all these studies and PhDs and everything has this also impacted I mean you strive a lot so much so yeah I think there is a.

[35:17] A lot of, how do you say, I'm very grateful for what I have been able to do. So my parents were refugees from the eastern country, from Czech Republic, and they came to Switzerland, and I was lucky enough to be born in Switzerland. But I'm aware of the luxury we have and the great opportunities we have here. And i'm i'm yeah i'm just fortunate enough to to to be able to to use this absolutely i mean that's and i mean it's all worked out for you that is for sure and i really hope from my heart that you keep um doing the work you do with your team and try i mean to i mean excel on what you do. I mean, you do it, obviously, in a very high level and with the right colleagues and partners. And I mean, I wish you definitely all the best. Thank you very much. From my heart on that.

[36:20] So that was, let's say, the episode with Professor Dr. Jana Pahlopnik. Jana, thanks a lot for being here today. Thank you so much. Giving us all this insight. I mean, first of all, to understand what you're doing on one side but also to getting to know you as a person because for me it was both very important it's not, I mean, what you do we can read on one side, it's better of course to hear it from you directly.

[36:47] But behind all this research is a fascinating person as well and I think that is something that came out to me as well in this podcast thank you really much a lot Thank you for this opportunity and I hope I could sparkle a little bit Yes, of course, of course, I think the people can reflect definitely i mean not everyone has to do the journey that you have done it's definitely painful but um i think one of the key messages also for me i mean it's if you strive on that you can definitely i mean it's nothing is easy so if you strive a lot and you do the work it's been done and you have a little bit of lack and motivation and the right people around you then, everything is possible and achievable and i hope this keeps on working for you thank you very much Thank you as well. So for us, I hope you enjoyed it as well, Jana's introduction, but also the input from Jana.

[37:42] We'll be together also in the next month with the next podcast. Please send us also your feedback, but also your messages on whom should we invite next or stay in touch with us in LinkedIn, where I have the possibility also to give you some other insights and more information about various topics let's say that i think it's very um current in the more in the business but also social world so thanks a lot for staying with us and i wish you all the best and until the next time.


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