We meet at one of her workplaces, the Huntington Disease Clinic, at the Neurology Clinic at Skåne University Hospital, SUS, in Lund, high up in Blocket. Hazy views of rapeseed fields, all the way to the sea, blue and beautiful. This is where Åsa Petersén meets the affected individuals and their families.
– In my work I´m driven by the need I see when I meet the affected families. It´s clear that the psychiatric symptoms are the most difficult to deal with for the affected individuals and their loved ones. It´s very sad to see how the disease impairs a person's function over time. It becomes crystal clear that more research is needed to really improve the quality of life and survival of these families.
Translational research
So she's doing research. Her group's research is known as translational. This means that Åsa brings important questions, for which sufficient knowledge is lacking, from the clinic where she meets her patients, to the research, that is, to the laboratory to study them further. The laboratory is a stone's throw away, at the Biomedical Centre (BMC) at Lund University. It's her second work-place. The purpose of the translational approach is to then return the new knowledge to the patients at the clinic. The research process is a cycle, where the patient is at the center.
In the clinic it´s clear that the psychiatric symptoms often come first. They include altered social interaction skills, irritability, depression and difficulty in taking the initiative. It´s not known how these symptoms arise and what brain regions they come from. These important questions are then studied through experiments in the laboratory and through analysis of clinical material, such as MRI images and brain tissue from deceased patients.
Called Saint Vitus’ dance
Her research has already shown that the psychiatric symptoms can arise from the influence on the brain of the Huntington gene. In the past, Huntington's disease was sometimes called Saint Vitus’ dance. The typical motor symptom of Huntington disease is involuntary dance-like movements, called chorea in more medical words (chorea = Ancient Greek for dance). It's an inherited genetic brain disease caused by a mutation in a single gene. This is well known. A child, whose parent has the mutation, runs a 50 percent risk to inherit the mutation herself, and thus develop the disease. The disease begins insidiously at some point in life. It leads to difficulties with emotional regulation, thoughts and movements. The person is gradually functioning worse. About 20 years after the movement disorder begins, the affected individual dies.
Already back in high school Åsa knew that she wanted to be a researcher and a clinician. To discover and develop what becomes new knowledge attracted her. An inspiring lecture by Professor Patrik Brundin in semester 3 of the medical program ignited Åsa's great interest in the Huntington's disease.
– The disease seemed like a fascinating and touching mystery. With a single gene change as an explanation and with consequences for both regulation of movements, thoughts and feelings, one should be able to figure out how the disease occurs and how to slow it down. A few months after the lecture, I had the opportunity to start my PhD project in Patrik Brundin's research group. Since then I've been hooked – it's been 23 years!
Controls emotional regulation
A trip to Venezuelaa made a long-lasting impression on Åsa. Here thousands of people who live around Lake Maracaibo are affected by Huntington´s. They have been studied for generations and have significantly contributed to research that identified the Huntington gene itself.
– As a young PhD student, I got to join the American research team that ran the studies there and I got to be responsible for collecting medical history in Spanish. I met more people with Huntington´s there than I do in a year at our clinic. We talked a lot about how people with a higherBMI had a slower disease progression, and this has accompanied me in my research, where I am also interested in understanding more about body weight regulation in the disease.
In Huntington´s´ research, there has previously been a strong focus on the typical motor disorder manifested by the patients and its association to changes in one of the brain's motor centers, the basal ganglia. Today, researchers know that the psychiatric symptoms often appear 15 to 20 years before the impact on movements becomes visible. Åsa's hypothesis is that the early psychiatric symptoms come from changes in the brain hormone center, the hypothalamus, which precisely controls the regulation of emotions.
– Our research has shown that changes in the hypothalamus occur early in Huntington's disease and that there is a link to early symptoms. We now want to show which specific neural cell pathways in the hypothalamus are affected and how they lead to the development of the psychiatric symptoms. We are also investigating if the hypothalamus network can be a target for treatments for the psychiatric symptoms and also for therapies aiming at preventing the development of the disease itself.
Åsa Petersén's research group has a unique focus.
– We have shown new and exciting changes in an area of the brain that has not been studied so closely before and which may have an impact on the development of psychiatric symptoms. How psychiatric symptoms arise from the brain is one of the most exciting areas of brain research, I think.
And as she sees it, what are the main trends in Huntington's research right now?
– An important trend now is to develop molecular tools to silence the disease-causing Huntington's gene in various ways. As these tools approach and are being tested in clinical trials, it´s becoming increasingly clear that more basic scientific questions about how, when and where the disease develops need to be answered in order to advance the therapeutic developments in the best way.
Åsa is passionate about her job. And she is very happy to be able to combine her two professional areas, to have the opportunity to work as both researcher and clinician.
– I hope that my research will increase the understanding of the psychiatric symptoms of Huntington's disease and also other psychiatric conditions. In the long term, I hope to contribute to the development of treatments both for psychiatric symptoms and to slow down or prevent the actual development of Huntington's disease. Research really gives meaning to work and life. It´s essential for improving health care and developing novel treatments. It is important to remember that there´s a strong urgency for us as researcher to make significant progress. People's lives depend on it.
Åsa Petersén, professor of neuroscience and consultant in psychiatry, heads the Huntington Center at Lund University. She has recently been appointed Wallenberg Clinical Scholar in 2020 with a research grant of 15 million SEK over five years to find methods that can slow the progression of Huntington's disease.
Age: 45
Family: Husband and two children
Lives: In Lund and Österlen
In your free time: Hang out with the family, exercise
Education: Medical degree and postgraduate education at Lund University
Professional background: Worked as an intern at Blekinge Hospital in Karlshamn and resident in psychiatry at the Psychiatric Clinic in Lund. Held positions as research assistant, researcher and senior lecturer at Lund University
How did you end up at Lund University? I started studying at the medical program in 1994 and I have been here ever since
Time on Department of Experimental Medical Science? Since 1997
Research area: Neuroscience and Psychiatry
Your greatest research moment? When we were able to show causal relationships between then mutant Huntington gene in the hypothalamus using advanced genetic manipulations in experimental models and the development of depression and metabolic influence. Being able to show causality is always great
The best insight you've got when you've been researching? How much hard work and failures are required for progress.
What's your superpower? I probably have a lot of what is called grit (coined by psychologist Angela Duckworth), a mixture of passion, inner drive and perseverance