An interview published in Ellipse, the monthly magazine of the PRBB.
Mar Albà is a biologist who has moved from the lab to the computer and the analysis of the genome. After five years in England, she joined the UPF with a Ramon y Cajal contract, and since 2005 she is an ICREA Research Professor. Currently she coordinates the group of Evolutionary Genomics at the GRIB (IMIM/UPF) and the subject ‘Principles of Genome Bioinformatics’ at the master of Bioinformatics at the UPF. Since several months she has added motherhood to those tasks.
What memories do you have from your PhD?
It was a good experience, but I did see that I was not made for the laboratory but for a more theoretical research.
How did you decide to do bioinformatics?
It was somewhat by chance. When I arrived at University College London in 1997, I didn’t know where to direct my career. I joined a Master’s degree in bioinformatics and molecular modelling, and it was decisive.
What fascinates you most about your research?
Trying to figure out how organisms evolve using the tracks present in the DNA sequence. Understanding how our genes have originated and how, during evolution, certain sequences happen to have an important role that natural selection is responsible for preserving. We do this indirectly by comparing the genomes of different species and trying to infer what may have happened on the way.
What have been the highlights of your career?
The studies I made in London in the late 90s about the evolution of repetitive sequences in the laboratory of John Hancock, the first one to use data from the complete genome of yeast. Also the research on the origin and evolution of genes that have recently appeared, which I have done in collaboration with José Castresana and Macarena Toll-Riera, indicating that these genes have an evolutionary plasticity that will be lost over time.
What are the differences in the way of doing research in London?
There weren’t big differences in the quality of research, but it was a more open, more American system, where the merits of the person are what counts, and not their origin or who they know. In fact, many group leaders were foreigners. This surprised me a lot because when I did my PhD in Barcelona, there weren’t even any foreign researchers. Things are changing now with centres like the PRBB, the CNIO or the Parc Cientific, which try to adopt a different philosophy in recruiting and which, being new, don’t suffer from certain inertia.
Is informatics a male area?
Yes, but so are other sciences. In fact, I think the working world is designed for people with few family responsibilities, which traditionally have been men. We must also take into account the instability of the research career and the continuity you need in a system where assessment is done through the production of publications and attendance at conferences. Difficult to assume if you have kids.
How can it change?
Perhaps when more women are in positions of decision, since they have a broader vision. And it’s not just a question of children, but also other aspects of a person’s life, such as caring for the elderly.
What advice would you give to junior researchers?
Do not be discouraged. At times when you doubt about your research, remember that it is a privilege to live off what you love.
What would you be if you were not a scientist?
I never thought I would do something else other than research. I never had a plan B.
The history of the group goes back to the early 80s, when doctors Jaume Aubia and Adolf Díez set up the bone metabolism research group. “At this time we had just started to use densiometers to measure bone density”, explains Xavier Nogués, coordinator of the current Genetics of Osteoporosis research group at the IMIM (Hospital del Mar Research Institute) and head of the internal medicine service at the Hospital del Mar. “It was after 1998 when the genetics side was developed more specifically, focusing on osteoporosis”, he says. That was when the collaboration with the Genetics Department of the University of Barcelona began, which is still going strong today.
The group is made up of doctors, biologists and biochemists, dedicated to the study of osteoporosis, the loss of bone mass due to imbalance between the formation and resorption (remodelling) of the bone. This condition is frequent in post-menopausal women because of decrease in oestrogen levels. “Bone is a constantly renewing, living tissue. Osteoblasts are cells which form bone, and osteoclasts destroy it. It is calculated that it takes 10 years to renew the whole skeleton, but there are always millions of units remodelling it”, explains the head of the group.
Looking for the genetic base
There are many environmental factors affecting osteoporosis: tobacco, alcohol and certain medicines. But there is also an important genetic element, as osteoporosis has a heritability of 70-80%.Today, some 20 candidate genes are known which provoke susceptibility to osteoporosis, but none is particularly predominant.
One of the group’s projects deals specifically with these genes and involves a cohort of 1600 women. “Right now we’re working on two particular genes, OPG and RANKL, although we have worked on many others”, says Nogués. In addition, the group forms part of the multinational GEFOS consortium which brings together osteoporosis cohorts from various countries to enable a meta-analysis of up to 300,000 samples.
Osteoporosis and cancer
The group has another project under way on osteoporosis and breast cancer, in collaboration with the team of Joan Albanell (IMIM). “One of the drugs taken by women with breast cancer, the aromatase inhibitor, may provoke osteoporosis. We are doing densiometry and clinical and genetic analysis on more than 450 patients to study a possible correlation”. To test the genetic findings from the patients, the group does in vitro gene expression studies on cultures of primary osteoblasts.
Microidentation, a new diagnostic method
Approximately 35% of women over 50 suffer fractures because of osteoporosis, particularly around 60 years of age. “It is important to detect and treat the osteoporosis before a fracture, but densiometry is only done to women considered at risk, for example due to early menopause. There is still a long way to go”, explains Nogués. In fact, the group is heading up a project, in collaboration with the University of California, on a prototype portable device to determine the mechanical strength of the bone from a simple puncture which makes a microidentation in the tibia. “This system is painless and easily reproducible. Moreover it will be more economic, more accurate and more practical than densiometry”, comments Nogués.
According to the doctor, 90% of women with a fracture of the femur have never had densiometry or received treatment, even though efficient treatments exist which avoid the loss of bone mass. “A calcium rich diet (1000 mg/day) is also important, as is avoiding alcohol and tobacco, which increase bone resorption, whereas physical exercise stimulates bone formation”, advises Nogués.
This article was published in the El·lipse publication of the PRBB.
An interview recently published in Ellipse, the monthly magazine of the PRBB.
Tempted by journalism, Josep Maria Antó finally plumped for medicine. Specialising in pneumonia and epidemiology he discovered his passion for research in the 80s when he was directing research on the asthma epidemics in Barcelona. A pioneer in the study of environmental factors on respiratory diseases, he joined the IMIM in 1988 and the UPF in 1999. Since 2005 he has been directing the CREAL and the Respiratory Diseases research programme.
What are your memories from the early years of the old Municipal Institute of Public Health?
It was an exciting time. We built an information base to support the health policies, because without information it is impossible to make intelligent and fair public health policies. It was necessary to transform the health system inherited from the dictatorship and in many aspects it had to be completely reorganised.
The soya case was your first success.
We had organised a register of hospital emergencies which allowed us to see which part of the population was affected. It was a scientific and health triumph because we discovered what was causing the asthma epidemic: the unloading of soya in the port of Barcelona. They put filters in a silo and the problem was solved. In a short period of time we published 4 articles in the Lancet and the New England Journal of Medicine.
How has the view of environmental risks changed?
At that time, the majority of specialists assumed that atmospheric contamination was not relevant to health. With the register created in 1991 we concluded that the air quality standards of the WHO didn’t adequately protect public health. Now everyone recognises that it is an important public health issue.
Do you think that the policy responses are adequate?
Normally any policy responses are insufficient and come too late. The environmental risk regulation mechanisms require a lot of accumulated scientific evidence. In this way, the measures are implemented late, when the consequences are often devastating. It is necessary to go forward thinking about the principle of protection.
What does working in an environment like the PRBB offer you?
Working with the best helps you improve, Not only because you learn and get ideas, but also because it makes you competitive. At the PRBB the level is so good that it generates the need to excel. The other thing in its favour is the interdisciplinarity. It is easy to move through the corridors and find some of the best specialists in the world in a specific subject!
Can you combine research with the management of the CREAL?
I think that in order to direct research it is necessary to keep researching, even though it’s clear that you can’t spend the same kind of time on it and sometimes that is frustrating.
What are the next challenges in your research?
I have started a European project, MeDALL, coordinated jointly with INSERM, on the mechanisms of allergic diseases. It ranges from epigenetics to systems biology. This is one of the major scientific challenges that I have faced and I’m very excited.
What advice would you give to a researcher just starting out?
More than advice, what young people need is excellent education and the means necessary to develop their scientific careers. At the CREAL we are developing a “mentoring” programme for young researchers.
The colours of science
Science, in its day-to-day form, presents itself full of colours, as many as a painter’s palette and with the rainbow’s range of tonalities. The single nucleotide polymorphisms (SNPs) are the most common variations of the human genome. These small modifications are very useful in medical research of complex diseases and to develop new drugs. The SNPs present few variations between generations, a fact that allows us to follow the evolutionary processes in studies of population genetics. They are also used in some genetic tests, such as paternity tests or forensic analyses.
The use of SNP arrays, seen in the image, allows the analysis of up to 1 million SNPs in a single reaction. This system generates an impressive amount of data from less than one microgram of DNA; an amount of data that years ago no researcher ever dreamed of having so quickly.
This image was published in Ellipse, the PRBB monthly newspaper.