Month: October 2019

Dr Constantine Stratakis, Scientific Director at the Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) and Society for Endocrinology Dale Medal winner, shares insights into his career and fascinating research on the genetics of pituitary tumours, ahead of his lecture at SfE BES 2019.

Could you tell us about your current position and your research?

I am the Scientific Director of NICHD, one of the 27 Institutes and Centres that form the National Institutes of Health (NIH) in the United States. I am privileged to have been the scientific leader there for the last 10 years. As an investigator, I have been running my own laboratory at NICHD, NIH for over 25 years now. My laboratory focuses on identifying the genes or other genetic defects underlying the development of endocrine tumours. We started with the study of pituitary and adrenal tumours associated with endocrine neoplasia syndromes, but gradually expanded to other lesions and cancers, both inherited and sporadic.

Please tell us a little about your career path so far and what you’re most proud of?

I’ve been at the NIH now since 1993. However, I have been in endocrinology research since 1985 and am originally from Greece. Between medical school and my post-doctoral years, I spent some time in Paris, France where many of my collaborators are from.  Over the years, I have been very fortunate to have built a great network of friends, mentors and collaborators, globally.

I’m indeed grateful to my many extraordinary collaborators from all over the world who have been so loyal and good to me – some for over 35 years! I would not have achieved what I have without them.

What more specifically will you be presenting in your Medal Lecture at SfE BES 2019?

In my lecture, I will talk about the genetics of pituitary tumours and how studying rare syndromes, such as Carney complex, Multiple Endocrine Neoplasia types 1 and 4 (MEN 1 and MEN 4), X-linked acrogigantism (X-LAG), and others,  have uncovered important clues on what leads to the formation of both hereditary and sporadic pituitary tumours. I will outline some of our most important published work about the genetics of pituitary tumours and will also present some recent and unpublished data that shed light on new genes and pathways that may predispose a patient to pituitary tumours.

Is there anything you are particularly looking forward to at the conference and would recommend to others?

The SfE BES conference’s convenient size offers more opportunities to see a lot more than you would at larger conferences. I’m looking forward to attending lectures that bridge basic and clinical science, meeting trainees that may be interested in working in my laboratory in the US, consult with collaborators in the UK and elsewhere, and of course, meeting with my old friends and colleagues.

I like the ‘Meet the expert’ sessions and am planning to go to the session ‘Update on DSD genetics’, the symposium ‘New insights into PCOS’, and the oral communications session ‘Neuroendocrinology, pituitary and neoplasia’.

What do you think are the biggest challenges in your research area at the moment?

I think the biggest challenge right now is the handling of large datasets. With today’s tremendous technology, we have the ability to produce massive amounts of data, but the ability to analyse this data is lagging behind. For endocrine trainees and researchers alike, the challenge is receiving proper training in bioinformatics, so that we don’t have to rely on people who may not be trained in the molecular physiology of endocrine tumours. We need to bring bioinformatics to the point where you can analyse these large datasets by combining old knowledge with new knowledge.

What do you think will be the next major breakthrough in your field?

I think artificial intelligence is not that far away and will allow us to incorporate the various “-omics” data into one important piece of information that will be immediately translatable to discoveries. Analysing data from both cell line work with clinical information from patients with tumours will really help with the discovery process.

What do you enjoy most about your work?

The biggest joy of doing this type of work is analysing the mysterious, being excited by the discoveries, and coming up with the next questions. Yes, answers are important, but it is the questions and curiosity that excites me more than the answers themselves. I love Einstein’s quote: “The most beautiful thing we can experience is the mysterious. It is the source of all true art and science. He to whom the emotion is a stranger, who can no longer pause to wonder and stand wrapped in awe, is as good as dead —his eyes are closed”. And to this day, I have at my office hanging over my desk the poster that Dr J. Aidan Carney gave me (when we started working together back in 1994), with Albert Szent-Gyorgyi’ s saying: “Discovery consists of seeing what everybody else has seen and thinking what nobody else has thought”.

Is there anyone you admire most professionally or otherwise?

I consider myself very fortunate to have met and learned from Dr J. Aidan Carney from the Mayo Clinic and admire him for his extraordinary acumen, commitment to academia, and dedication to discovery. He discovered three different diseases, including Carney’s complex, the foundation of my career in genetics. There is now a disease that bears our names: Carney-Stratakis syndrome. Dr Carney taught me what I now enjoy most about my work – the pleasure that comes from discovering something new and exciting within what was previously unknown or ignored, as Albert Szent-Gyorgi said.

Beyond Dr Carney, I have been very fortunate to have met and been inspired by giants in medical genetics like Drs Robert J. Gorlin and Francis Collins. I also had mentors in my early career that were amazing to me, including Prof Menelaos Batrinos, Dr Spiros Pitoulis, Prof Jean-Pierre Luton, Dr Owen M. Rennert, Prof George P. Chrousos, and Dr Carolyn Bondy. It is their teachings and leading by example that guide me today. 

Do you have any words of wisdom to aspiring endocrinologists?

My advice would be to follow your heart and do what you want to do. Don’t be dissuaded by what others say, about the lack of funding or the lack of opportunities. As Nelson Mandela said, “it always seems impossible until it’s done”. Surround yourself with great mentors, friends, collaborators, and eventually, yes, trainees; be nice to all of them because they will be there for you for the rest of your life. And remember that the travel is yours, only yours: success is a travel for which there is no other path than the path you make, very much like what Antonio Machado said: “traveller, there is no path. A path is made by walking (caminante, no hay camino se hace camino al andar).”

You can hear Dr. Stratakis’ plenary Medal Lecture, “From Carney complex to gigantism and Cushing disease: an insight in the genetics of pituitary tumors” on Monday 11 November at 18:10. Find out more about the scientific programme for SfE BES 2019.

Dr Barbara Boucher spent a long and extremely busy career as a physician at the (Royal) London Hospital and its medical school, and was amongst the first post-NHS cohorts of female medical students. She has made important contributions to the field of diabetes, with a number of discoveries on the adverse health effects of vitamin D deficiency and on the addictive habit of chewing betel-nut. Despite being retired, she is still helping to advance her scientific field and will be presenting at this year’s SfE BES annual conference. We spoke to her ahead of the conference to hear more about her long career and research interests.

Could you tell us about your current position and your research?

I am now long retired but have maintained interests in two major research areas: vitamin D deficiency and betel nut chewing. Since 1970, I have worked on adverse health effects of vitamin D deficiency and how deficiency can be avoided. My main hope now is to see deficiency abolished at the population level, as has been done in Finland. Betel nut chewing is very common in all South Asian countries and causes many major health problems. It has been confirmed for many years now that this habit – the 4^th most common globally – causes many cancers, but I am interested in the role it has in causing metabolic syndrome, both in chewers and across generations.

Can you tell us a little bit about your career path and what you are most proud of?

I was accepted by the London Hospital Medical College where I studied medicine and anatomy, soon after the NHS first started requiring medical schools to take women. I completed my training in medicine and worked for various firms, as well as the academic medical unit after I qualified, and eventually I was appointed as an academic/NHS physician.

I was the first female consultant physician at the (Royal) London Hospital, which was a very interesting experience, though initially rather unpleasant since most of the consultant body back then weren’t keen on women in medicine. I spent most of my career working there and carrying out research, mainly focused on diabetes and endocrinology.

There are three things throughout my career that I feel especially pleased with. One is a diagnosis I made in a young woman with Lyme disease, the first case I’d ever come across. She had seen consultants in six different departments to try to determine what was wrong with her, before I made the diagnosis. We managed to get her the necessary antibiotics just in time for her to make a full recovery and throw away a wheelchair and two hearing aids.

I am also glad that I have persisted in pursuing the idea that lack of vitamin D might worsen metabolic syndrome and increase the risk of type 2 diabetes since, and that I have lived long enough to see both mechanistic and clinical evidence to suggest that this could be true.

The third thing I am proud of is publishing a series of papers about South Asian men who chew betel-nut and how they, and their children, have increased risks of metabolic syndrome, heart disease, type 2 diabetes, and liver disease. Ten years later, it has just been shown that betel chewers are also dying early due to these health conditions. Next, we’re hoping to look at how many years it takes, after stopping chewing, for the risks to decrease to the same levels as are seen in never-chewers.

What will you be presenting at your SfE BES 2019 lecture?

My talk will be about the known health benefits of vitamin D and the importance for vitamin D supplementation trials to be properly designed. There have been many trials analysing the effect of vitamin D supplementation in people who are not deficient, or were not adequately supplemented, resulting in statements that vitamin D doesn’t affect general health, despite all the other evidence to show that it does.

What are you most looking forward to at this year’s conference?

I would like to see that young endocrinologists are still as enthusiastic about what they are doing as my generation were, as I sometimes wonder how medicine, let alone research, is surviving with all the constraints placed on how people work these days.

What are the biggest challenges in your research area?

One of the biggest challenges in my area is getting future randomised, controlled trials right and stopping them from obscuring things that are true. It is important that researchers doing such trials understand the mechanistic data and plan with this in mind, which has not always been the case. I think this is a problem, at least in part, because in modern medicine people don’t meet together or get to chat to each other as much as they used to, and also because researchers and clinicians may not always collaborate as closely in these areas as should.

What do you think will be the next breakthrough in your field?

One obvious breakthrough would be getting any future trials designed to provide optimal conditions for testing health benefits of vitamin D. But the best breakthrough would be the abolition of the deficiency.

The next development for the risks of betel-chewing will be obtaining data on the people who stop chewing, to see if mortality risks then fall. This would encourage more people who chew to give up the habit.

What do you enjoy most about your work?

I enjoy getting to the bottom of things and seeing bits of work come through that make sense and provide additions to current knowledge. However, if something comes through that proves something I thought matters, doesn’t matter, that’s okay too!

Who do you admire most professionally and why?

Professor Wilson, who was the Professor of Medicine at the London Hospital, was an excellent role model to me in my student days. He was always prepared to sit down with students to work out a problem and was never didactic, which a lot of consultants were in those days. He was also a very good ‘detective’.

Another person I learnt a lot from was Dr Stuart Mason, who was the senior endocrinologist at the time I worked with him. One of the most important things he taught me was how to look after people and how to work with patients and provide the best care. He was a physician who cared deeply about his patients and would always talk to them as human beings, answer their questions honestly and look them in the face, all of which were very uncommon traits at that time.

Do you have any words of wisdom for aspiring endocrinologists?

In order to survive, make sure you’re working on something you enjoy. If you don’t enjoy your work, you won’t do it well and you should look for something else. If you have a hunch and you are able to follow it up, go for it. You never know; some hunches are good, some aren’t, but it’s always worth pursuing where there is a basis for some new approach. I would also say that if you want happy and satisfied patients, act as their mentors and advisors and find ways of talking to them and looking them in the face rather than always looking at the ubiquitous computer screens!

You can hear Dr Boucher’s talk, “Potential benefits of better vitamin D status for non-bony disorders?” on Tuesday 12 November at 17:45. Find out more about the scientific programme for SfE BES 2019.

Professor Fadil Hannan, Director of the Oxford Centre for the Endocrinology of Human Lactation, is this year’s well-deserved winner of the Clinical Endocrinology Trust Basic Science Abstract prize. His research focusses on the endocrine control of lactation and bone and mineral disorders. In this interview, Prof Hannan tells us more about his research and what he will be presenting at SfE BES 2019.

Can you tell us about your current position and research?

I’m based at the University of Oxford and have recently been appointed as the Director of the Oxford Centre for the Endocrinology of Human Lactation (OCEHL). I also work on characterising the genetic basis of bone and mineral disorders. In addition, I am an honorary consultant chemical pathologist at the John Radcliffe Hospital in Oxford.

Please tell us a little about your career path so far, and what you are most proud of?

My background is in chemical pathology – this is a small, clinical discipline with very few academics. I decided to become an academic chemical pathologist after undertaking a PhD in the lab of Prof Rajesh Thakker FRS, at the University of Oxford. My proudest achievements include the discovery of disease-causing mutations in the GNA11 and AP2S1 genes, which has led to insights in the genetic basis of parathyroid gland function.

What are you presenting at your Medal Lecture at SfE BES 2019?

I am presenting data on a mouse model for a disorder known as familial hypocalciuric hypercalcaemia type 3 (FHH3). This is a recently identified disorder and we are utilising this model to better understand the phenotype of FHH3, and also to evaluate targeted drug therapy.

Is there anything you are particularly looking forward to at this year’s conference and you would recommend to others?

I’m looking forward to the nature versus nature debate for body weight. Clearly both influences are important but it’ll be nice to hear the arguments in favour of each contribution. 

What do you think are the biggest challenges in your research area right now?

I think more funding is needed to support curiosity-driven research, as this is the type of research that is most likely to lead to substantial advances in our understanding of biology.

What do you think will be the next major breakthrough in your field?

This is difficult to predict, however, I hope that suitable cellular models can be developed to allow us to study complex physiological processes, such as lactation.

What do you enjoy most about your work?

I really enjoy coming up with a scientific idea and then going ahead and testing whether this idea has any merit or not. This process pretty much sums up what science is about.

Who do you most admire professionally, or otherwise, and why?

I have many scientific heroes, so will mention just a couple of them. I have huge admiration for Rajesh Thakker, who is my mentor. He is always on hand to provide helpful advice and I have really enjoyed our robust scientific discussions over the years. In addition, Carl Sagan has made a great impression on me. He was a true scientific visionary and one of the great communicators of science. I always wish that I’d had the chance to meet him.

Any words of wisdom for aspiring endocrinologists out there?

If you’re interested in working in an intellectually fascinating field, which involves interactions between many tissues and organs and includes a wealth of cutting-edge science, then endocrinology is the specialty for you!

You can hear Prof Hannan’s presentation, “Mice harbouring a germline heterozygous AP2S1 mutation, Arg15Leu, are a model for familial hypocalciuric hypercalcaemia type 3 (FHH3)” on Tuesday 12 November at 10:25. Find out more about the scientific programme for SfE BES 2019.