One of Finland’s brightest young talents unlocking the mysteries of the human genome is Henna Tyynismaa, whose frontier research is making important new breakthroughs for personalised medicine.
Something potentially revolutionary is brewing in the Petri dishes on the fifth floor of Helsinki’s Biomedicum research centre. Here Henna Tyynismaa and her team are studying the genetic causes of a group of diseases characterised by progressive stiffness and spasticity of the lower limbs.
The Petri dishes contain patients’ motor neurons that have been differentiated from skin cells that were first reprogrammed into stem cells.
“Motor neurons are much easier to study in a dish than in a patient’s body!” quips Tyynismaa, a rising star in the research of genetics and molecular neurology.
Rapid advances are being made in this emerging field, including innovations in testing methods that enable scientists to pinpoint the genetic causes of medical disorders and – eventually – develop precision treatments for individual patients.
“When we started this research four years ago, it was uncharted territory in Finland. Since then, we have found several mutations that are causing these axonal disorders. Some are triggered by as many as 70 different genes. We have even found new, previously unknown genes,” Tyynismaa says.
Tyynismaa’s work is part of a paradigm shift that is going on in the clinical world today.
“Thanks to next-generation gene technology and the shrinking cost of reading DNA, the next five years will bring major developments to our understanding of the mechanisms that cause diseases,” the researcher states.
In the not-so-distant future, a routine visit to the physician could be radically different from the one-size-fits-all approach of today.
“Tomorrow, when a patient comes to a clinic with certain symptoms, instead of performing the traditional run of expensive tests, we will simply use genome sequencing to identify the mutant genotypes responsible for the disorder,” predicts Tyynismaa.
This is what is called personalised medicine: an approach that emphasises the uniqueness of each patient’s particular disease risks.
While genomic diagnostic methods are advancing rapidly, a vast amount of work still needs to be done before DNA sequencing can be applied routinely to deliver targeted cures for individual patients.
“But every time we identify a disease gene, we understand a little bit more about the underlying mechanisms. This doesn’t translate directly into treatments yet, but there have been cases where we have been able to offer suggestions – for instance we can target a known pathway with an existing drug. These cases are rare, but it’s a promising start,” she says.
DNA treasure trove
Tyynismaa believes Finland has the potential to become a global leader in genomic diagnostics.
“But we have to convince policymakers that it’s a cost-effective option,” she says.
A clear advantage for Finland – in addition to being an established forerunner in genetic research – is its well-organised healthcare system.
“Luckily people in Finland are very willing to participate in genetic studies,” says Tyynismaa.
Another goldmine for medical researchers is Finland’s unique gene pool.
“It’s very limited, and we have specific diseases that aren’t present anywhere else, which is excellent for research. There has been lots of overseas interest in Finnish biobanks,” she says.
With quiet determination, Tyynismaa has steadily risen to the forefront of her field. After publishing an award-winning PhD, she secured a position at Helsinki University as post-doctoral research fellow, followed by tenure as academy research fellow, being the first ever to hold the two positions simultaneously – and all before turning 40.
“I fell in love with genetics back when I was studying for a high school biology exam. From the day I realised that there are people who research for a living, I knew it was the life for me,” she says.
Tyynismaa modestly credits her success to “patience, hard work and Finland’s education system.”
She also praises pioneers such as the late Leena Peltonen-Palotie, one of the world’s most influential geneticists.
“Leena was a tremendous inspiration to many of us. Finland has had great people spearheading our genetic research right from the start,” she says.
Science as teamwork
Tyynismaa is a member of many parallel research projects, including the MitoLink group, a network of young independent mitochondrial scientists from Northern Europe.
The members of this group work at different universities studying various aspects of mitochondrial biology, from basic biochemistry to specific human diseases. An extensive range of research methods and model systems are in use, from fruit flies to patients’ motor neurons.
“Science today is all about collaboration. Pooling our different types of expertise is the fastest way to get results and EU funding,” according to Tyynismaa.
While science has made impressive headway identifying the genes that cause rare health disorders, we are still far from unlocking the genetic mysteries behind the world’s most common – and costly – diseases.
“There’s a great deal of work to be done in this area, but I’m confident that our experience with rare diseases will help us solve the mysteries of the common ones, too – and perhaps one day cure them.”
Specialist in molecular neurology, human genetics and
Director of Research Program Unit, University of Helsinki, 2015-
European Research Council grant recipient, 2014-
University of Helsinki Biomedical Thesis Award for an exceptional biomedical thesis, 2007
Married, two children aged three and ten
“I don’t really have time for hobbies. Science is so much fun that it’s enough.”
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