“Genetic research works only within an international network”

Dr. med. Anne-Karin Arndt (31), from the University Hospital in Kiel, is currently completing a post doc at Brigham and Women’s Hospital, Harvard Medical School. Here she offers an insight into her research.

What does genetic research on congenital heart defects look like right now?

Compared to cancer research, cardiogenetics is still in its infancy. Many paediatric cardiologists have doubts about the relevance of this research field and don’t do much to support it. There is a real need to promote awareness.

In your work, you look for the genetic culprits responsible for the development of congenital heart defects.

That’s right. As part of a project for the competence network for congenital heart defects, we’re looking for the expression of genes in patients with hypoplastic left heart syndrome (HLHS). Genome-wide, we’re using RNA sequencing of heart tissue to identify the genes that are up- or downregulated.  So far, we’ve found a series of genes that showed abnormality when compared to the control group and are associated with HLHS. We’ll examine these in more detail in the zebrafish model.

Recently, another successful area of research was published in the American Journal of Human Genetics. In cooperation with Sabine Klaassen in Berlin and other colleagues in Kiel, Boston, Zurich and London, we identified PRDM5, a gene critical for the expression of a congenital form of heart muscle disease. Mutations to this gene could result in heart insufficiency. I just received the Charles J. Epstein Award for Excellence in Human Genetics Research from the American Society of Human Genetics (ASHG) for this work.

What impact does your research have on patients?

Paediatric cardiologists often ask this question because once a heart defect has developed, it can’t be made to go away again. The field of cardiogenetics is developing rapidly. Our experiments are opening up new possibilities for substances or medicines that improve heart function, for example. We can test them with the help of the zebrafish model, and we already have initial indications of substances that could be of interest.

For genetic counselling, our research is also significant regarding the inheritability of certain heart defects. And someday it will be useful for individualized medicine; we’ll be able to explain why a certain medicine works for one person but not for another, which is already the case in cancer medicine.

Right now you’re doing your research in the US. Why?

I left Kiel for Boston because the opportunities to perform basic research in this area are better in the US, and because Sabine Klaassen was already collaborating with my work group leader, Calum MacRae. Professor MacRae is a cardiologist for adult medicine who specializes in genetic research and heart development mechanisms.

Do you have plans to return to Germany?

In the summer of 2014, I’d like to come back to Prof. Dr. Hans-Heiner Kramer’s university hospital in Kiel; I’ll bring what I’ve learned in the US to Germany and set up a laboratory for zebrafish research there.

The paediatric cardiology unit at the university hospital in Kiel has supported the Competence Network’s biomaterial bank for years.

Yes, we have, because genetic research only works as part of a network. Among us researchers, there’s a culture of exchange.  We help each other, sharing expertise and conducting analyses for each other. For instance, Marc Hitz at the Sanger Institute conducts the exome sequencing, Sabine Klaassen at MDC evaluates certain values, I’ve got the zebrafish in Boston, and so on. The Competence Network offers a good framework for this kind of collaboration because the partners are networked by expertise. And thanks to the biomaterial bank, we all have access to many more samples.

What are the challenges?

There needs to be more acceptance in Germany of genetic research, more research money and better facilities. Technologically speaking, we’re lagging behind the US and the UK. If we are to compete internationally, we need to invest more. We’ve already taken the first step by founding the German Centre for Cardiovascular Research and now we just have to continue working in this direction.

To close, one personal question. What do you like to do in your free time to help you relax?

I like to sing.


The competence network’s biomaterial bank stores quality-approved samples with exact phenotyping from some 2,500 patients and their healthy family members. The diagram shows the patients’ primary diagnoses. Interested researchers can apply for samples for scientific purposes.