Vox Meditantis

In a field where women fought for respect and recognition, Dorothy Hansine Andersen (1901-1963) stood as a formidable figure – part pathologist, part detective, part pioneer. Her story reveals the brilliant mind behind one of medicine’s most crucial discoveries: the identification of cystic fibrosis. Here sits the woman who solved medical mysteries that had confounded physicians for decades, transforming how we understand rare diseases and laying the foundation for modern paediatric medicine.

What makes Andersen’s work so vital today is not simply her discovery, but her methodical approach to scientific investigation. At a time when medicine was becoming increasingly specialised, she bridged pathology and clinical medicine, basic science and patient care. Her systematic methods for studying rare diseases anticipated the precision medicine approaches that now drive gene therapy and personalised treatments. Today’s cystic fibrosis patients – who can expect to live well into their forties rather than dying in infancy – owe their extended lives to the detective work she began in 1938.

Dorothy, welcome. I’m here in what I imagine would be your laboratory at Babies Hospital at Columbia-Presbyterian, though I suspect you’d prefer to speak in your characteristic no-nonsense manner. Let me begin with the obvious question: how does it feel to speak with someone from 2025, knowing that children with cystic fibrosis now routinely live into middle age?

Well, I’ll be damned! Forty-odd years, you say? When I first wrote about CF in 1938, those poor children were dying in infancy – six months if they were lucky. You know, I always suspected we’d crack this thing eventually, but hearing it… that’s something else entirely. Tell me, are they still using that sweat test Paul and I developed?

They are, actually. The Gibson-Cooke sweat test remains the gold standard for diagnosis, though there’s been some controversy about who deserves credit for that discovery.

Ah yes, the Matilda Effect, isn’t that what they call it now? Paul di Sant’Agnese was my protégé, you understand. A brilliant young fellow from Italy whom I hired in 1944. The heat wave discovery in 1948 – that was our work together. But somehow, history has a way of forgetting the woman in the equation, doesn’t it?

Can you walk me through that discovery? The 1948 New York heat wave seems to have been pivotal.

Absolutely critical. During that blistering August – temperatures hit 101 degrees – we had twelve children come in with heat exhaustion. Seven of them had CF. Now, most physicians would have noted the coincidence and moved on. But I’m a pathologist, trained to see patterns where others see isolated incidents. I’d been studying these pancreatic lesions since 1935, seeing the same cysts and scars in autopsy after autopsy.

The key insight was this: why were CF children so susceptible to heat prostration? Paul and I hypothesised it was related to salt balance. We published our findings in 1951 – Walter Kessler, Paul, and myself. But Paul was young, ambitious, and frankly, more palatable to the medical establishment than a woman pathologist. His 1953 follow-up study got all the attention.

Let’s go back to your original discovery. You’ve said you were performing an autopsy on a child thought to have celiac disease when you noticed something unusual. Can you take me through that moment?

This was 1935. The child had all the classic signs – malnutrition, failure to thrive, chronic diarrhoea. But when I opened up that little body, there was this lesion in the pancreas that simply didn’t fit. The pancreas was filled with cysts, surrounded by scar tissue. I’d never seen anything quite like it.

Now, most pathologists would have noted it in the report and moved on. But I’m methodical by nature – perhaps to a fault. I went back through years of autopsy records, case by case. I found forty-nine similar cases. Children who’d been diagnosed with celiac disease, but all showing these same pancreatic abnormalities, plus universal evidence of chronic respiratory infections.

That’s quite a leap – from noticing an anomaly to defining an entirely new disease. How did you make that connection?

Pattern recognition, pure and simple. You see, I’d trained under Florence Sabin at Johns Hopkins – the first woman full professor there. Florence taught me to look beyond the obvious, to trust what the tissues were telling me rather than what the textbooks said.

The children weren’t dying of celiac disease at all. They were dying of this pancreatic condition that was also affecting their lungs. The thick, sticky secretions were blocking ducts throughout their bodies – pancreas, lungs, even sweat glands, though we didn’t understand that connection initially.

Let me ask about your technical approach. For our expert readers, can you walk us through your diagnostic methodology?

Certainly. First, we developed the duodenal intubation test – inserting a tube into the duodenum to collect pancreatic juice and analyse the enzyme content. Children with CF showed dramatically reduced trypsin and lipase activity. The procedure was invasive, uncomfortable for the patients, but it gave us quantifiable data.

We measured enzyme concentrations in International Units per millilitre. Normal children showed trypsin levels above 25 IU/mL; CF children consistently tested below 5 IU/mL. The specificity was around 95%, though the sensitivity varied depending on the child’s nutritional state.

The real breakthrough came when we shifted to studying sweat. After the 1948 heat wave, we developed methods to stimulate localised sweating and measure chloride concentration. Normal children had sweat chloride levels below 40 milliequivalents per litre. CF children consistently showed levels above 60 mEq/L, often reaching 100-120 mEq/L.

What made your approach different from other researchers of the time?

I bridged disciplines in ways that weren’t common then. Most pathologists stayed in the morgue; most clinicians avoided the laboratory. But I understood that dead tissues could only tell you so much. You needed to study living patients to understand disease progression.

I also insisted on rigorous controls. For every CF case, I’d examine matched controls – children of similar age and nutritional status. I kept detailed records, not just of the obvious symptoms, but of family histories, seasonal variations, even socioeconomic factors. This was 1930s medicine, remember – most physicians were still working from intuition rather than systematic data collection.

You also discovered what became known as Andersen disease – glycogen storage disease type IV. How did that come about?

That was 1956, nearly twenty years after the CF discovery. Again, it started with an autopsy that didn’t fit the expected pattern. This infant had died of what appeared to be liver failure, but the microscopic examination showed these strange, branched glycogen deposits.

Normal glycogen has a highly branched structure – think of it as a tree with many branches. But in this child, the glycogen was barely branched at all, more like long, straight chains. These accumulated in the liver and muscle tissues, causing progressive organ failure.

I traced it to a deficiency in the glycogen branching enzyme – what we now call GBE1. Without adequate enzyme activity, the body can’t properly structure glycogen for storage and retrieval. It was another example of how enzyme deficiencies can have cascading effects throughout the body.

Your work on congenital heart malformations is less well-known but equally impressive. Can you tell us about that?

Oh, that was some of my most satisfying work! I began collecting hearts from infants born with cardiac defects – specimens that other pathologists might have discarded after routine examination. By the mid-1940s, I had one of the world’s most comprehensive collections of congenital heart specimens.

The timing was perfect. Surgeons were just beginning to attempt open-heart surgery, but they needed detailed anatomical knowledge to succeed. I developed training programmes at several hospitals, using my specimens to teach surgeons the precise anatomy of various malformations.

Think about it – before my work, surgeons were operating blind, literally cutting into hearts without understanding the exact nature of the defects. My specimens gave them roadmaps. I’d dissected and catalogued hundreds of different malformations, creating detailed drawings and photographic records.

I understand you were denied a surgical residency because of your sex. How did that affect your career trajectory?

Oh yes, 1928 at Strong Memorial Hospital. I’d completed my surgical internship with excellent evaluations, but when it came time for residency, they simply told me: “We don’t train women surgeons.” No discussion, no consideration of merit.

I won’t pretend it didn’t sting. But looking back, it may have been the best thing that happened to me. Surgery in those days was all technique and bravado. Pathology required thinking, puzzle-solving, the kind of methodical investigation that suited my temperament perfectly.

Besides, I eventually got my revenge, didn’t I? Those surgeons who wouldn’t train me came begging for my expertise when they needed to understand cardiac anatomy. There’s a certain satisfaction in becoming indispensable to the people who once dismissed you.

What was it like being a woman in academic medicine during the 1930s and 40s?

Lonely, often. I was usually the only woman in faculty meetings, the only woman presenting at conferences. You develop thick skin, or you don’t survive.

But I had advantages too. Florence Sabin had paved the way at Hopkins. She taught me that competence speaks louder than convention. If your work is solid, if your data is unassailable, eventually even the most stubborn colleagues have to acknowledge it.

I also learned to play to my strengths. I was naturally organised, methodical – traits that served me well in pathology. I kept better records than most of my male colleagues. When questions arose about a case from five years earlier, I could produce the complete file, while they were searching through scattered notes.

You mentioned Florence Sabin as a mentor. Can you tell us about that relationship?

Florence was transformational for me. This was a woman who’d broken through barriers I could barely imagine – first woman full professor at Hopkins, first woman elected to the National Academy of Sciences. But she never made it seem impossible or even particularly difficult.

She taught me to approach research systematically. “Dorothy,” she’d say, “intuition might guide you to a question, but only rigorous method will give you an answer.” My first research papers were on the lymphatic system in pig embryos – hardly glamorous work, but Florence insisted on precision in even the smallest details.

More importantly, she taught me that being a woman in medicine meant you had to be twice as good to get half the recognition. But if you were willing to pay that price, you could make contributions that mattered.

Let’s talk about your laboratory practices. I’ve heard you kept a rather… unconventional workspace?

Oh, you’ve heard about that, have you? Yes, well, I’ve never been one for appearances. My laboratory was functional, not tidy. Specimens everywhere, papers stacked in what others might call chaos but I knew as careful organisation.

I held these semi-annual “glüg” parties – a nod to my Scandinavian heritage – right there in the lab. Colleagues would come, have a drink, discuss cases. Some found it scandalous, but I found that informal discussions often led to breakthrough insights. Science shouldn’t be stuffy.

I was also known for doing my own home improvements – roofing, carpentry, whatever needed doing. Some saw it as eccentric, but I saw it as practical. If you can dissect a heart, you can certainly repair a roof. Both require steady hands and logical thinking.

Your CF research led to treatments that extended these children’s lives. How did it feel to see immediate clinical applications of your work?

That was the real reward – seeing children who would have died at six months celebrating their fifth, then tenth birthdays. By the 1950s, we had over 600 children in our CF clinic. Each one represented a victory against what had been considered inevitable death.

We developed comprehensive care approaches – pancreatic enzyme supplements, nutritional support, respiratory therapy. Nothing fancy by today’s standards, but revolutionary then. The key insight was that CF wasn’t just a pancreatic disease or just a lung disease – it was a systemic condition requiring coordinated treatment.

There’s been criticism that your discoveries primarily affected small populations – rare diseases that garnered less attention than more common conditions. How do you respond to that?

That criticism misses the point entirely. Yes, CF affects a relatively small number of children – but those children were dying, universally and horribly. Should we ignore suffering because it’s not statistically significant?

Furthermore, studying rare diseases often reveals fundamental biological principles. My CF research helped establish the concept of genetic diseases caused by single-gene defects. The methodologies I developed for studying enzyme deficiencies became standard approaches throughout medical genetics.

Sometimes the “small” discoveries have the biggest impacts. If you save one child’s life, you’ve changed the world for that family. If you develop methods that help identify dozens of other rare diseases, you’ve changed medicine itself.

Looking back, is there anything you would have done differently?

I should have been more assertive about claiming credit for my contributions. I was raised to believe that good work speaks for itself, but I’ve learned that’s not always true. Women’s contributions get minimised, forgotten, attributed to male colleagues.

I should have fought harder for recognition of the sweat test work. Paul di Sant’Agnese was my student, my protégé. The discovery built on my decade of CF research. But because he presented it at conferences, because he was young and male and charming, history remembers his name, not mine.

I also regret not writing more for popular audiences. My work was published in medical journals, read by specialists. If I’d explained it to parents, to the general public, perhaps more families would have sought proper diagnosis sooner.

What would you think of modern genetic approaches to CF – gene therapy, CFTR modulators?

Extraordinary! You’re actually correcting the underlying defect rather than just treating symptoms. In my day, we could only describe the disease, not truly understand its cause.

But I’m not surprised it took so long. I always suspected CF would turn out to be genetic – the family clustering was too consistent for coincidence. I just didn’t have the tools to prove it. The fact that you’ve identified the specific gene, the specific protein defect… it validates everything we observed about mucus consistency and chloride transport.

What impresses me most is the systematic approach. You haven’t just developed one treatment; you’ve created multiple therapeutic pathways. That’s exactly the kind of comprehensive strategy we needed but couldn’t achieve with 1950s medicine.

What advice would you give to young women entering medicine and science today?

Be prepared to be underestimated – and use that to your advantage. When people expect little, you can surprise them. But never underestimate yourself. Trust your observations, trust your instincts, and most importantly, trust your data.

Don’t try to fit into the boys’ club. Create your own standards of excellence. I was never going to be accepted as “one of the lads,” so I became something different – more thorough, more methodical, more persistent. Find what makes you unique and sharpen it into a competitive advantage.

And remember: science is collaborative, even when the recognition isn’t shared equally. My work built on Florence Sabin’s teachings, just as others have built on mine. The goal isn’t individual glory – it’s understanding the natural world well enough to help people.

Any final thoughts on how your work has influenced modern medicine?

I think my greatest contribution wasn’t any single discovery, but demonstrating how pathology and clinical medicine could work together. Too many physicians were treating symptoms without understanding underlying mechanisms. Too many pathologists were content with describing abnormalities without considering therapeutic implications.

The detective approach – starting with careful observation, forming hypotheses, testing systematically – that’s become standard in medical research now. But in my day, it was unusual to bridge those disciplines.

Most importantly, I showed that rare diseases deserve serious attention. Every medical mystery solved teaches us something fundamental about human biology. The child with the unusual autopsy findings isn’t just a case study – they’re a teacher, showing us how life works when it goes wrong.

That methodical, compassionate approach to medical investigation – that’s what I hope people remember. Not just Dorothy Andersen who discovered cystic fibrosis, but Dorothy Andersen who showed how to solve medical mysteries with rigour, persistence, and genuine care for suffering children.

Thank you, Dorothy. Your legacy lives on in every CF patient who reaches adulthood, in every rare disease that gets proper investigation, and in every woman scientist who refuses to be overlooked.

Just remember to give credit where credit is due. And if you see Paul di Sant’Agnese in the historical records, remind people that he had an excellent mentor.

Letters and emails

Following our conversation with Dorothy Hansine Andersen, we’ve received an overwhelming response from readers eager to explore her groundbreaking work further. We’ve selected five letters and emails from our growing community who want to ask her more about her life, her work, and what she might say to those walking in her footsteps.

Chidinma Nwosu, 34, Medical Research Coordinator, Lagos, Nigeria
Dr. Andersen, in many parts of Africa today, we still struggle with limited diagnostic infrastructure for rare diseases like cystic fibrosis. Given that you developed your diagnostic methods with 1930s technology, what would you say are the absolute minimum laboratory requirements to identify CF in resource-limited settings? Could your original duodenal intubation technique be adapted for rural clinics?

Miss Nwosu, your question strikes right to the heart of what I’ve always believed – that good medicine shouldn’t be the privilege of wealthy nations alone. When I developed that duodenal intubation technique in the 1930s, we weren’t exactly working with fancy equipment ourselves, you know.

Here’s the thing: the basic principles are dead simple, and that’s what makes them portable. You need three essential elements – a way to collect pancreatic secretions, a method to measure enzyme activity, and careful record-keeping. The duodenal tube itself is just rubber tubing with a metal tip, nothing that couldn’t be manufactured locally or imported cheaply. We used to sterilise them in plain boiling water, for heaven’s sake.

The real trick is the enzyme analysis. In my day, we used simple colorimetric tests – you add specific substrates to the pancreatic juice and watch for colour changes that indicate enzyme activity. No electricity required, just basic chemistry reagents and a keen eye. A trained technician could learn to read these tests in a matter of weeks.

But here’s what I’d recommend for your African clinics: forget the duodenal intubation altogether. It’s invasive, requires skilled physicians, and frankly, it scared the dickens out of the children. Focus on the clinical presentation instead – chronic respiratory infections, failure to thrive despite adequate nutrition, and especially that tell-tale sign of salty skin when you kiss the child’s forehead. Mothers know this instinctively.

If you can get your hands on basic laboratory equipment, start with stool fat analysis. Children with CF have greasy, bulky stools because they can’t digest fats properly. You can measure stool fat content with simple extraction techniques – ether extraction, weighing, basic arithmetic. It’s not glamorous work, but it’s reliable and cheap.

The sweat test, once we perfected it in the late 1940s, would be ideal for your setting. You stimulate local sweating with heat or mild electrical current – nothing fancy – collect the sweat, and measure salt content. But I’ll be honest with you: without reliable equipment to measure precise chloride concentrations, you’d have to rely on clinical judgment and family history.

What I’d really emphasise is this: train your local health workers to recognise the pattern. CF children don’t just have one symptom – they have a constellation. Chronic cough, poor weight gain, recurrent pneumonia, and yes, that salty taste. A sharp-eyed nurse or health worker who understands the full picture might catch more cases than a fancy laboratory that only looks at isolated test results.

Keep detailed records, just as I did. Every case teaches you something. I learned more from my first fifty autopsies than from any textbook. Your African colleagues have the same observational skills I had – probably better, given that they’re seeing patients in their natural environment rather than in sterile hospital wards.

One more thing: don’t underestimate the power of simple treatments. We didn’t have modern medications in my era, but we saved lives with basic nutritional support, chest percussion to clear mucus, and most importantly, educating families about the chronic nature of the condition. A mother who understands why her child needs extra salt, extra calories, and daily chest therapy can extend that child’s life significantly, even without sophisticated medical intervention.

The principles haven’t changed, my dear. Good observation, systematic thinking, and genuine care for the patient – those work just as well in Lagos as they did in New York.

Christopher Johnson, 41, Bioethics Professor, Toronto, Canada
You mentioned keeping comprehensive specimen collections from deceased infants with cardiac malformations. In today’s world, there are strict ethical protocols around consent and tissue use. How did you navigate the moral complexities of your research in an era with fewer formal guidelines? Do you think modern bioethics might actually hinder the kind of systematic specimen-based research that led to your discoveries?

Professor Johnson, you’ve hit on something that’s troubled me for years, and frankly, it’s gotten worse since my time. The irony is rich, isn’t it? Modern medicine talks endlessly about ethics committees and informed consent, yet I wonder if all those safeguards might actually prevent the kind of systematic research that saves lives.

Let me be blunt about how things worked in my day. When a child died at Babies Hospital, the family was grieving, devastated. The last thing on their minds was whether some pathologist might learn something useful from their tragedy. We didn’t have forms to sign or committees to consult – we simply did our duty as physicians to understand why children were dying.

But here’s the thing: I never took that responsibility lightly. Every specimen I collected, every heart I preserved, every tissue sample I studied – that represented someone’s beloved child. I kept meticulous records not just of the pathological findings, but of the family circumstances, the child’s brief life, what brought them joy before the illness took hold. Those weren’t just “cases” to me; they were human stories that demanded respect.

The moral complexity you’re asking about – well, it was simpler then, but perhaps more honest. We operated under what you might call the principle of beneficent paternalism. We believed – rightly or wrongly – that advancing medical knowledge was inherently good, that understanding disease mechanisms would ultimately help more children than any individual consent process could protect.

Take my cardiac malformation collection, for instance. By the 1940s, I had specimens from nearly 300 infants with congenital heart defects. Each one taught me something new about cardiac development, about which malformations were compatible with life and which weren’t. When surgeons like Helen Taussig started attempting cardiac repairs, my collection became their anatomy textbook. How many children’s lives were saved because surgeons could study the exact anatomy before operating?

But would I have been able to build that collection under today’s ethical frameworks? Probably not. Imagine trying to approach grieving parents with consent forms about tissue retention and future research uses. Some would agree, certainly, but many would refuse – not because they oppose medical progress, but because they’re overwhelmed by grief and suspicious of institutional motives.

Here’s what really concerns me about modern bioethics: it seems designed more to protect institutions from liability than to protect patients or advance knowledge. All these committees and protocols – they create the illusion of moral clarity while often preventing the very research that could help future patients.

I’ll give you a concrete example. My cystic fibrosis work required studying pancreatic tissue from dozens of children who’d died of the disease. Under today’s rules, I’d need specific consent for each case, approval from multiple committees, regular reviews of research protocols. By the time I navigated all that bureaucracy, how many more children would have died waiting for answers?

Don’t misunderstand me – I’m not advocating for a return to the bad old days. There were abuses, certainly. The Tuskegee study, the radiation experiments – those were unconscionable violations of basic human dignity. But we’ve swung so far in the other direction that we’re paralysing legitimate research.

What bothers me most is the assumption that modern ethics committees are somehow wiser or more moral than practicing physicians who see suffering firsthand. I spent my career watching children die of diseases I couldn’t understand or treat. That creates its own moral imperative – one that no committee member sitting in a conference room can fully appreciate.

The real ethical question isn’t whether we have enough safeguards, but whether we’re letting bureaucratic processes prevent us from helping sick children. Every day we delay understanding a disease mechanism, more patients suffer. Every research project that gets bogged down in ethical reviews represents potential treatments that never get developed.

I think the solution isn’t more rules, but better training for physicians in research ethics. Teach doctors to think carefully about the implications of their work, to respect patient dignity, to consider long-term consequences. But don’t create so many barriers that only the most determined researchers can navigate them.

You know what the real tragedy would be? If some future Dorothy Andersen, working in a hospital today, noticed an unusual pattern in autopsy findings but couldn’t pursue it because the institutional review board considered it “fishing expedition” research. How many medical mysteries would remain unsolved? How many children would continue dying of preventable diseases?

Sometimes I think we’ve confused ethical research with risk-free research. But medicine has always involved risks – the risk of being wrong, the risk of causing harm, the risk of missing something important. The goal should be thoughtful risk-taking, not risk avoidance.

That’s the real ethical imperative: having the courage to pursue difficult questions, even when the answers might be uncomfortable or challenging to obtain.

Hana Kim, 28, Genetic Counsellor, Seoul, South Korea
Your work established that cystic fibrosis follows recessive inheritance patterns, but you didn’t have access to molecular genetics. I’m curious about your thought process – what specific family pedigree patterns convinced you this was genetic rather than environmental? And how did you counsel families about recurrence risk without being able to offer carrier testing?

Miss Kim, now that’s a question that gets to the real detective work! You’re absolutely right – we had no molecular tools, no carrier testing, nothing but careful observation and logical deduction. But sometimes that forces you to think more clearly than all the fancy laboratory tests in the world.

The family patterns were unmistakable once you knew what to look for. I started noticing it around 1940, after I’d collected enough cases to see the bigger picture. You’d have these perfectly healthy parents – no respiratory problems, no digestive issues – but they’d lost two, sometimes three children to what we now know was CF. The children would be fine at birth, then develop the same constellation of symptoms: chronic cough, failure to thrive, greasy stools, recurrent pneumonia.

What clinched it for me was studying the sibling patterns. In affected families, roughly one in four children developed the disease. Not all of them, mind you – you’d often see healthy siblings mixed in with the sick ones. That’s classic Mendelian recessive inheritance, though we didn’t use that fancy terminology much in clinical practice.

I kept detailed pedigree charts – hand-drawn, of course – tracking three generations when I could get the information. The pattern was consistent: affected children born to unaffected parents, with about 25% of offspring showing symptoms when both parents carried the trait. Never saw father-to-son transmission of the active disease, never saw it skip generations in the way dominant traits do.

But here’s what really convinced me it wasn’t environmental: I’d see families where one child died of CF at age two, then the parents would have another affected child five years later. Different pregnancies, different living conditions, different doctors even – yet the same disease pattern. If it were infectious or nutritional, you wouldn’t see that kind of consistency across time.

The geographic distribution was telling too. I was seeing CF in families from all over – Manhattan socialites, immigrant families from Brooklyn, farm families from upstate New York. No common water source, no shared food supplies, no obvious environmental link. But when I traced family histories, especially in the immigrant populations, I’d often find European ancestry with similar respiratory problems in previous generations.

Now, counselling families without molecular testing – that was the real challenge. I had to be honest about what I knew and what I didn’t. I’d tell parents something like this: “Based on what we’re seeing in your family and others like it, this appears to be an inherited condition. If you have one affected child, there’s roughly a one-in-four chance that future children might be affected as well.”

The mathematics were straightforward, but the emotional reality was brutal. These were families who’d already lost children, who were desperate for hope. I couldn’t offer them carrier testing or prenatal diagnosis – those concepts didn’t even exist yet. All I could do was give them the statistical facts and help them make informed decisions.

Some families chose to have more children despite the risk. Others didn’t. I tried never to influence that decision – it wasn’t my place to tell people how to plan their families. But I made sure they understood that CF wasn’t their fault, wasn’t caused by anything they’d done wrong during pregnancy or afterward.

What broke my heart was the guilt these mothers carried. In those days, maternal behaviour during pregnancy was blamed for everything from birth defects to childhood illnesses. I’d have mothers asking if they’d caused their child’s CF by working too hard, or not eating enough vegetables, or having a glass of wine before they knew they were pregnant. Nonsense, of course, but you had to address those fears directly.

The trickiest part was explaining recessive inheritance to families with no scientific background. I developed a simple analogy using eye colour – everyone understood that two brown-eyed parents could have a blue-eyed child if both carried the hidden blue-eye trait. CF worked the same way, I’d explain, except the hidden trait caused disease instead of just changing appearance.

I also had to be careful about extended family counselling. Once word got out that CF was hereditary, you’d have aunts and uncles and cousins all worried about their own children. I’d get calls from relatives asking if their child’s persistent cough might be CF, or whether they should avoid having children altogether.

The lack of carrier testing made genetic counselling more art than science. I had to rely on family history, clinical observation, and frankly, maternal intuition. Mothers often knew something was wrong before any test could confirm it – that instinctive recognition of salty skin, the way an affected infant felt different when you held them.

Looking back, I think our approach was more honest in some ways. We couldn’t offer false certainties or perfect predictions. We had to acknowledge the limits of our knowledge while still providing families with the best information available. It forced both doctors and families to deal with uncertainty in ways that modern medicine sometimes avoids.

The real tragedy wasn’t that we couldn’t predict which children would be affected – it was that we couldn’t do much to help them once they were. That’s what drove my treatment research. Knowing the inheritance pattern was useful for family planning, but it didn’t keep children alive. That required understanding the disease mechanism itself, developing better nutrition protocols, improving respiratory care.

Still, establishing the genetic basis was crucial for the field. It helped other researchers understand they were looking for an inborn metabolic defect rather than an infectious agent or environmental toxin. That focus shaped decades of subsequent research, even if we couldn’t see the molecular details ourselves.

Diego Álvarez, 36, Paediatric Pulmonologist, Buenos Aires, Argentina
Here’s a hypothetical for you: imagine you had been born fifty years later, with access to electron microscopy, genetic sequencing, and modern cell culture techniques from the start of your career. Do you think you would have approached the cystic fibrosis puzzle differently, or do you believe your methodical, observation-first approach was actually the optimal path regardless of available technology?

Dr. Álvarez, that’s a fascinating question – and I’ll admit, it’s got me thinking harder than I have in years! You know, there’s part of me that wants to say I’d have cracked the whole thing in half the time with those fancy tools. But honestly? I’m not so sure that would have been better.

Here’s the thing about having all that sophisticated equipment from the start – it might have made me lazy. When you can sequence genes and culture cells and peer inside living tissue with electron microscopes, there’s a temptation to jump straight to the molecular level without really understanding what you’re looking at clinically.

My observation-first approach wasn’t just a product of limited technology – it was a philosophy. I believed then, and I believe now, that you need to understand the whole patient before you can make sense of the cellular details. Those forty-nine autopsy cases I studied weren’t just tissue specimens; they were children with individual stories, each one teaching me something different about how the disease progressed.

If I’d started with genetic sequencing in, say, 1935, I might have identified the CFTR gene defect right off the bat. Sounds wonderful, doesn’t it? But would I have understood what that gene actually did? Would I have recognised that it affected not just the pancreas, but the lungs, the sweat glands, the reproductive system? I doubt it.

The methodical approach forced me to see patterns that molecular tools might have obscured. When I noticed that CF children all had thick, sticky secretions, that wasn’t just a clinical observation – it was the key to understanding the entire disease mechanism. If I’d been focused on gene sequences from the beginning, I might have missed that fundamental insight about mucus consistency.

But let me be honest about where better technology would have helped enormously. The diagnostic development – good Lord, what I could have accomplished! Instead of that invasive duodenal intubation, I could have used cell cultures to study pancreatic function directly. Instead of waiting for Paul di Sant’Agnese’s heat wave discovery, I might have identified the chloride transport defect years earlier through direct cellular studies.

The real game-changer would have been electron microscopy for my cardiac malformation work. I spent countless hours with hand lenses and basic microscopes, trying to understand the precise anatomy of complex heart defects. With electron microscopy, I could have seen the cellular architecture, understood exactly how these malformations developed during embryogenesis. That would have accelerated surgical advances by decades.

Here’s what really intrigues me about your hypothetical: would I have been as good a teacher and mentor with all that advanced technology? Part of what made my approach effective was that I had to explain everything from first principles. When you’re working with basic tools, you develop a deeper intuitive understanding of the underlying biology.

I trained dozens of residents and fellows over the years, and they all learned to think like detectives because that’s what the technology demanded. If we’d had genetic sequencing and cell culture from the start, would they have developed that same analytical mindset? Or would they have become dependent on the machines to do their thinking for them?

The other thing that concerns me is the pace of modern research. With all that sophisticated equipment, there’s pressure to publish quickly, to move from observation to conclusion in months rather than years. But some insights take time to develop. I studied CF for nearly thirty years, and I was still learning new things about it when I retired. That kind of long-term, patient investigation might not survive in today’s publish-or-perish environment.

But – and this is a big but – think about the children we could have saved! If I’d had access to gene therapy techniques in 1950, or even just better understanding of the cellular mechanisms, how many more of those 600 children in our clinic might have lived to see adulthood? That haunts me, honestly.

The diagnostic speed would have been revolutionary too. Instead of waiting months or years for definitive diagnosis, we could have identified affected newborns immediately. Early intervention has always been crucial in CF – the sooner you start proper nutrition and respiratory care, the better the outcomes.

Here’s what I think would have happened in your hypothetical scenario: I’d have made faster progress on the mechanistic understanding, but I might have missed some of the clinical subtleties that shaped my treatment approaches. The art of medicine – learning to read a child’s condition from subtle signs, understanding family dynamics, developing that intuitive sense for disease progression – that might have been lost in favor of laboratory data.

The ideal approach would have combined both, wouldn’t it? Start with careful clinical observation to understand the full scope of the disease, then use advanced molecular tools to understand the mechanisms. But that requires a kind of intellectual discipline that’s rare – the willingness to slow down and observe when you have the tools to speed up and analyze.

I’ll tell you this, though: regardless of the available technology, the fundamental requirements for good medical research haven’t changed. You need curiosity, persistence, attention to detail, and above all, genuine concern for patient welfare. Those fancy tools you mentioned – they’re just instruments. The mind behind them, the questions it asks, the patterns it recognises – that’s what really matters.

So to answer your question directly: I think my observation-first approach was optimal regardless of available technology. But having those advanced tools from the start would have allowed me to test hypotheses faster, develop treatments sooner, and ultimately save more lives. The methodology would have been the same; just the execution would have been more efficient.

The real tragedy isn’t that I didn’t have electron microscopy in 1935 – it’s that too many modern researchers have electron microscopy but lack the patience for systematic observation that makes the best use of it.

Alessia Romano, 52, Science Policy Analyst, Florence, Italy
You’ve spoken about bridging pathology and clinical medicine, but I wonder about your role as a teacher and mentor. Beyond Paul di Sant’Agnese, did you train other researchers who went on to make significant contributions? How did you balance advancing your own research with nurturing the next generation, especially other women who might have faced similar barriers?

Dr. Romano, you’ve touched on something that was truly the heart of my work, though it’s gotten less attention than the research itself. Teaching and mentoring – especially of women – was never separate from my scientific mission. It was part of the same fight, really.

You mentioned Paul di Sant’Agnese, and yes, he was my most prominent protégé, but hardly my only one. I trained dozens of pathology residents over the years, and I made it my business to seek out the bright women who were struggling to find their footing in medicine. They’d come to me – sometimes formally assigned, sometimes just showing up at my laboratory door because they’d heard I might give them a fair shake.

The challenge was always time and resources. Research demands are relentless, especially when you’re working on your own dime half the time – the hospital wasn’t exactly throwing money at cystic fibrosis research in the 1940s. But I learned early that training good people was an investment that paid dividends. A well-trained resident could handle routine cases, freeing me up for the complex diagnostic puzzles. More importantly, they’d carry forward the methodical approach I’d developed.

I had a particular system for teaching. New residents would spend their first month just observing – watching me perform autopsies, sitting in on case conferences, learning to see patterns before they tried to interpret them. Too many programs rushed students into independent work before they’d developed proper observational skills. I’d rather have someone spend six months learning to really see what they were looking at than two years making sloppy diagnoses.

The women faced different challenges, of course. They’d come to me having been dismissed by other attendings, told they weren’t “tough enough” for pathology or that they should consider pediatrics instead – as if working with sick children required less intellectual rigor than examining dead tissue! I’d see the same pattern over and over: brilliant women who’d been made to doubt their own competence.

My approach was to give them the most challenging cases first, not the easiest ones. Sounds backwards, doesn’t it? But I’d learned from Florence Sabin that women in medicine needed to prove themselves capable of handling anything. If they could master a complex cardiac malformation or untangle a difficult metabolic disorder, the routine cases would seem simple by comparison. Build confidence through competence, not through coddling.

I also made sure they got proper credit for their work. When a resident made a particularly insightful observation or contributed significantly to a case, their name went on the publication. That was unusual in those days – most attendings took full credit for everything that came out of their departments. But I remembered how it felt to be overlooked, and I wasn’t going to perpetuate that system.

The balancing act you’re asking about – that was brutal, honestly. There were months when I’d spend more time reviewing residents’ work than advancing my own research. I’d get frustrated, especially when I could see important questions that needed investigating but couldn’t find the time to pursue them properly. But then one of my former residents would publish significant work, or I’d get a letter from someone who’d gone on to establish their own research program, and I’d remember why it mattered.

What kept me going was the multiplication effect. Every resident I trained properly would go on to train others. Every woman I helped establish in academic medicine would, I hoped, make it easier for the women who came after her. That’s how you change a profession – not through individual brilliance, but through building a network of competent, confident practitioners who share your standards.

I also tried to create opportunities that hadn’t existed for me. I’d arrange for promising residents to present at regional conferences, even when their work wasn’t quite ready for national meetings. I’d introduce them to colleagues at other institutions, help them make the connections that would advance their careers. The old boys’ network was impenetrable to most women, so we had to create our own networks.

The hardest part was watching talented women leave medicine entirely. Some got married and felt pressured to choose between family and career – a choice men never faced. Others grew tired of fighting for recognition and respect. I’d see brilliant minds lost to the profession because the institutional barriers were too exhausting to overcome.

But the successes made it worthwhile. I think about the women who went on to establish their own research programs, who made significant contributions to pediatric pathology, who became department heads in their own right. Not all of them stayed in touch, but occasionally I’d hear about work being done somewhere that reflected the methodical approach I’d tried to teach.

The irony is that mentoring probably delayed some of my own research by years. The cardiac malformation work, in particular – I could have published that comprehensive analysis much sooner if I hadn’t been spending time training residents. But would those findings have had the same impact without a network of properly trained pathologists to understand and apply them? I doubt it.

Looking back, I think the teaching and mentoring were as important as the research discoveries themselves. Science advances through individual insights, but it progresses through institutional knowledge – through creating a culture of rigorous investigation that outlasts any single researcher’s career.

That’s what I tried to build: not just a body of knowledge about rare diseases, but a tradition of careful observation, systematic analysis, and genuine concern for patient welfare. Whether I succeeded – well, I suppose that’s for the next generation to judge.

But I’ll tell you this: every woman who enters academic medicine today stands on the shoulders of the women who came before. My job was to make those shoulders a little broader, a little stronger, so the climb would be easier for the ones who followed.

Reflection

Speaking with Dorothy Hansine Andersen reveals the profound tension between individual brilliance and institutional recognition that continues to plague women in STEM. Her voice carries the sharp edge of someone who fought not just disease, but erasure itself. The sweat test controversy she addressed directly contradicts sanitised historical accounts that minimise her role in favour of her male protégé’s contributions.

What emerges most powerfully is Andersen’s unflinching critique of modern bioethics – a perspective rarely captured in academic tributes. Her argument that excessive regulatory frameworks might prevent the very discoveries that save lives challenges our contemporary assumptions about research ethics. This tension between patient protection and scientific progress remains unresolved in today’s medical research landscape.

Perhaps most striking is her insistence that methodical observation trumps technological sophistication – a lesson particularly relevant as artificial intelligence and molecular diagnostics reshape pathology and paediatric medicine. Her systematic approach to rare disease investigation anticipated today’s precision medicine frameworks, yet she warns against losing the detective instincts that technology cannot replicate.

The gaps in her story – the names of women residents she mentored, the institutional battles she fought, the personal costs of her professional choices – remind us how thoroughly women’s professional narratives have been abbreviated by history. Her legacy lives not just in every cystic fibrosis patient who reaches adulthood, but in every woman scientist who refuses to let her contributions be minimised or forgotten.

Andersen’s final challenge echoes across decades: science advances through individual insights, but it progresses through institutional change. The question for today’s researchers is whether we’re building broader shoulders for those who follow.

Who have we missed?

This series is all about recovering the voices history left behind – and I’d love your help finding the next one. If there’s a woman in STEM you think deserves to be interviewed in this way – whether a forgotten inventor, unsung technician, or overlooked researcher – please share her story.

Email me at voxmeditantis@gmail.com or leave a comment below with your suggestion – even just a name is a great start. Let’s keep uncovering the women who shaped science and innovation, one conversation at a time.

Editorial Note: This interview is a dramatised reconstruction based on extensive historical research into Dorothy Hansine Andersen’s life and work. While grounded in documented facts about her scientific contributions, personal characteristics, and historical context, the conversations and specific quotes are fictional interpretations designed to illuminate her perspective and achievements. Any opinions expressed reflect plausible viewpoints based on available evidence, not verified statements. This creative approach aims to honour Andersen’s legacy whilst acknowledging the limitations of the historical record.

Bob Lynn | © 2025 Vox Meditantis. All rights reserved. | 🌐 Translate