Distinguished Speaker Interviews
The ESHG Award and the Mendel Lecturers have talked to Mary Rice.
Huda Zoghbi, Mendel Lecturer 2013
Huda Zoghbi is a Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, Texas, USA. She will be giving the Mendel Lecture on Tuesday 11 June at 13.30 hrs. She talked to Mary Rice about her life and work.
At school, Huda Zoghbi always wanted to be a poet. “I didn't become interested in science until I was in my twenties. I loved literature, and I wanted to be an English literature major but my mother would not hear of it. She thought that a career as a writer would be very difficult and uncertain. She kept on nagging at me to apply to medical school. I resisted, so she cried and said that I would be throwing my life away, and that if I went to medical school I would have a career that could make me independent and secure. Finally I decided to apply to medical school just to make her happy.
Born in the Lebanon, Huda Zoghbi first studied medicine at the American University of Beirut in 1975. When the civil war began during her first year the city became very dangerous, so she and her brothers were sent by her family for safety to join a sister in Texas for the summer. A planned return to Beirut did not take place because the war escalated and Lebanon's borders were closed. So she then continued her studies at Meharry Medical College, Nashville, Tennessee. It was a difficult time; not only was she far from her family and homeland but transferring in the middle of October meant that she also had to catch up with her classmates. Her hard work paid off, and she was awarded an M.D in 1979. “That period stood me in good stead for future challenges”, she says.
It was during her residency in paediatric neurology at Baylor College of Medicine, Houston, Texas, that she first came across Rett syndrome. “I was touched by the plight of so many children with devastating neurological disorders”, she says, “and especially that of a five year-old girl with Rett syndrome. She had been born apparently healthy and had begun to walk and speak, and then by her third birthday, everything had changed. This was a devastating experience for her parents, and it inspired me to seek out training in basic research so that I could try to figure out what had caused her condition.”
So she started molecular biology training with Arthur Beaudet at Baylor in order to research Rett and other genetic neurological disorders. She has been working on Rett syndrome ever since, even during a time when there were very few others working in the field. “At the time I first encountered patients with Rett the syndrome was virtually unrecognised, and there were so few individuals and even fewer families to study that it was very difficult to make progress. But I never forgot my first Rett syndrome patient and she inspired me to keep going.”
Zoghbi has been responsible for many discoveries in her field - she co-discovered the SCA1 gene mutation, involved in a neurodegenerative disorder, as well as MECP2, responsible for Rett syndrome. But she remains modest about her achievements. “It's really hard to say that I am proud of a specific discovery. I'm most proud of my lab members who helped make many discoveries happen. I'm proud of them for believing, especially when very few others believed, that the discovery of a Rett gene was possible. I'm also very proud of, and cherish, collaborations, especially my 25 year collaboration with Harry Orr on SCA1. This is unique because we are working towards exactly the same goal, yet we complement each other and navigate all the key experiments while making sure that our trainees learn how to do great science and publish quality papers. It is a collaboration I hold very dear and it is one of the most precious gifts of my scientific career.”
Zoghbi feels very fortunate that she listened to her mother and ended up with a career in science. She finds a career in science and biomedical research most stimulating and rewarding. “To me it does not feel like work, but rather an adventure with a mission. I dream of the day when I can make some of my patients better through the knowledge gained from the research.”
Outside work, Zoghbi has other reasons to be happy. “I am most proud of the fact that I navigated my career and, with my husband, who has an equally busy work schedule, raised two awesome children. I have lots of interests outside science - opera, gourmet cooking, and exercise, including hiking. I like to spend time with loved ones enjoying these pleasures; my relationships with family, friends, colleagues and trainees are very important to me. I work out with my husband, often with my kids, and every now and then with a brave trainee!”
Retirement isn't on the cards yet. “Maybe when I am 70, though I don't imagine that I will walk away from science altogether - I might do something different. I dream of spending time with junior faculty, attending their lab meetings, reading their papers and grant applications, and advising them. I would love to mentor them and share my experience on how to navigate a science career successfully and happily. And of course I would like to spend more time with my husband travelling and enjoying the outdoors and opera.”
Does she regret not having been a writer? “No, not really, because I have found that I can satisfy my desire to write by structuring my talks and papers so that they tell a story. I'll be trying to transmit to the conference the excitement of the journey trying to figure out Rett syndrome and all that which we have learned along the course of that journey.”
Felix Mitelman, ESHG Award Lecturer 2013
Felix Mitelman is Professor of Clinical Genetics at Lund University, Sweden. He will be giving the ESHG Award Lecture on Tuesday 11 June at 14.15 hrs. He talked to Mary Rice about his life and work.
Felix Mitelman believes that chance has played a big part in his life. “I didn't choose to go into cytogenetics. In a way it chose me. Although it had always been planned that I would study medicine - it was what my parents wanted, and I wasn't opposed to the idea - there was the question of my marks at school, which weren't good enough to allow me to be accepted. Then, by a stroke of luck, the entry requirements changed and I learned that if I studied an additional subject and got good enough grades, I could make it. We, the students, knew that some subjects were easier than others, and among the easiest were sociology, anthropology, statistics and genetics. So I studied them all and got into medical school in 1961.
“So I had started to learn about genetics early on, but at that stage it was just so that I could get started on my medical studies. I certainly didn't have a burning desire to be a geneticist at that point, but I was interested in the subject and that led on to a summer project in cytogenetics during medical school.”
Once again, chance intervened. “As luck would have it, my supervisor was Professor Albert Levan, the discoverer of the human chromosome number. His main scientific interest was cancer cytogenetics, and he accepted me as a summer student. His enthusiasm for cancer cytogenetics sparked my interest in the subject and led to a PhD under his guidance. That's how it got started, but it was pure chance that he was in his office when I knocked on his door, and also that he accepted me as a PhD student. When I knocked on the door he could have gone for lunch and I could have ended up with someone else working in a different area - who knows what might have happened.
“Becoming a doctor was not my choice and cancer cytogenetics was not my choice either. After I had finished medicine I worked as a surgeon for a year. I liked that very much, and I think I was reasonably good at it, so I could very well have become a surgeon. But one thing seemed to lead to another. When I finished my PhD - this was in pathology because there was a collaboration between Professor Levan and the pathology department - I was working with rats, looking at tumours induced by different agents, and the natural thing would have been to become a pathologist because there was a shortage of pathologists at that time. But then I realised that, even though it was interesting, I hadn't studied medicine to work on rats.
“So I changed and went into the department of medicine, and that led to studies of chromosomes in leukaemia and that was the start of human cytogenetics for me. And that in turn led to clinical genetics. But again, I could have gone into surgery instead of medicine. I don't regret not going into surgery - I've had a good life in clinical genetics, and I think things turned out well overall.”
Indeed, there are many things in Felix Mitelman's career that turned out well. “The discovery of various chromosome abnormalities which are used now in the clinic for treatment of patients is a very practical thing which I think is something to be proud of. And the reason that this discovery is now being used so much is because of a very fruitful collaboration between clinicians, pathologists, and cytogeneticists which I helped organise in the late 70s called the International Workshops on Chromosomes in Leukaemia.
“I'm also proud of the fact that I started the Department of Clinical Genetics in Lund in 1975 - up till then there was no such department at Lund University. I was virtually alone; I had one full time and one part time technician and that was all. Today there are more than 100 people here. I've been at the same university all the time. Maybe I should have moved around, but I was so young - only 35 years old - when I became the head of this new department that I couldn't leave, so I stayed and then it grew and I had no reason to move. I'm happy here; it's a nice small university town with some 60000 people, of which 30000 are students.
“I also established a database of chromosome changes in cancer, starting in the late seventies. I tried to collect anything that had been published on chromosome abnormalities in cancer, and this has grown into a huge thing which is now available on the internet. It's part of a collaboration with the US National Cancer Institute and has become part of the Cancer Genome Anatomy Project, a project which aims to collect all genetic changes in cancer, and which now contains more than 60000 cancer cases, which I curate. Again, it started from zero and has grown into something quite substantial.
“Outside science, I like literature - I read a lot. I recently discovered the Renaissance thinker Michel de Montaigne, who I think is fascinating, and who I think will be my companion for the rest of my life. I put off reading him for a long time, but finally a year ago there was a new excellent Swedish translation of his Essays. I started reading it and I was hooked. It's absolutely fantastic - it's like speaking to someone in the coffee room. He has so many fresh and bright ideas about so many things, and he's just fantastic. So I think I'll read him again and again.”
Will he have more time for reading in the future? “Fortunately, I don't have a lot of spare time. I am retired after a fashion, though my wife hasn't noticed any difference. In Sweden you have to retire when you are 67, but in the last five years it's become possible at our university to continue as what's called a senior professor and be paid 20% of your salary, at least as long as you have research grants then you can carry on. It's an ideal position - you can enjoy science, interact with young enthusiastic scientists, but have no administrative responsibilities or attend bureaucratic meetings. So it's a good life, and I hope I can continue with it.”
Cytogeneticists should be proud of their achievements and continue to be so for many years to come, he says. “Many of them feel that they belong to a species threatened by extinction and that they will soon be replaced by sequencing machines. But we have been able for the first time in history to classify cancer on the basis on the genetic change that induced it and to make it possible to select appropriate treatment for particular changes. So I will be telling the conference that cytogenetics will continue to play an important role in the future. Cytogenetics is now an integrated part of the classification of many tumour types and many treatment protocols are based on this classification. The choice of appropriate treatment for patients can make an enormous difference to their lives and to change treatment protocols requires long-term prospective clinical trials.
“It will take many more years before we will have the same kind of knowledge about the results obtained by sequencing. A myriad of genetic changes is being discovered almost every day and it will be extremely difficult to understand what each change means. So I would like to encourage cytogeneticists to be proud of what they have achieved, what they do now, and the contribution they will make in the future.”