What is your research focus?
My central interest is to translate genomic findings into the clinics. As one of the first steps, robust genomic diagnostic test need to be implemented into the clinical routine.
What methods can the facility offer at Rudolf-Virchow-Krankenhaus (CVK)?
We offer a portfolio of already established genomic methods like RNA-seq, DNA-Seq, ChIP-Seq, Capture-C. We have set up automation workflows that support work with low quantities of input material (i.e. from FFPE samples). We have strong interests in new method development (i.e. liquid biopsy).
What will be different to the Core Facility Genomics at Buch?
The Genomics Facility at CVK will directly profit from the environment of the Charité – Universitätsmedizin Berlin and will allow for close collaboration with clinicians. The latter is expected to have impact on healthcare procedures.
With how many people will you start your work?
We will start with a group of four people: two technicians, one bioinformatican and me.
What have you worked on before you came to Berlin?
My interest in application of genomic methods to clinical diagnostics was sparked during my work with Prof. Martin Vingron and Prof. Hilger Ropers at the Max Planck Institute for Molecular Genetics.
During the last years, I have lead the molecular genetics diagnostic laboratory at Labor Berlin. I have implemented a wide range of Next Genereation Sequencing (NGS)-based diagnostic tests into clinical routine. Thanks to a collaboration with Prof. Peter Robinson (currently at Jackson Laboratories), and Prof. Stefan Mundlos, I have designed in silico-based clinical workflows (i.e. Zemojtel et al. 2014) for differential diagnostics of rare diseases and successfully translated it into clinics.
What fascinates you about your job?
The possibility to contribute to the revolution that is currently happening in healthcare.
When you have a look in the future? What do you see?
I will not be original here by saying that genomics will have a big impact on human healthcare decision making in the near future. It will be of a central task to appropriately communicate implications of advances in medical genomics to societies.