Why do some people not suffer from inherited motion disorders, although they bear the relevant mutations?
"Reduced Penetration Under Inherited Motion Disorders” is the theme of the Research Group 2488 of the German Society of Research. The spokespersons are Prof. Dr Christine Klein, Director of the Neurogenetics Institute at the Universität zu Lübeck and the University Medical Centre of Schleswig-Holstein at the Lübeck Campus, and Prof. Dr Frank Kaiser, Acting Director of the Institute for Human Genetics and Leader of the Functional Genetics Section.
Under the title “ProtectMove,” the group has been conducting research since 2016 on the mechanisms of endogenous disease protection. The group took stock of its work during a scientific conference held from 10–11 December 2018 in Lübeck, attended by about 100 guests and ten outstanding speakers (mostly from abroad).
As Prof. Christine Klein summarised, “So far, one has greatly underrated the phenomenon of reduced penetration, and current research on the concept of protection against diseases or postponement of the sickness age has been mostly ignored.” The overall objective of this research group is to understand why and how some humans with pathogen variants remain disease free.
Scientists have been looking into deciphering the underlying mechanisms of hereditary motion disorders in patients, like endogenous disease protection, such that the diseases are either delayed significantly or possibly even prevented. Coordinated in Lübeck, this project encompasses the fields of genetics, molecular and cell biology, motion disorders, epidemiology and statistics.
The speakers highlighted diverse facets of penetration. They delved thoroughly into details of the data collected over the first two years by the Lübeck research group. The conference provided the ideal platform and opportunity for members of the research group, including PhD and med-school students, to network and exchange ideas.
This great conference is evidenced by an email message sent by an attendee, who concluded with the words, “Thank you for the wonderful meeting. All the talks were great – I learned a lot and met many new colleagues and planned some new collaborations… It was the most enriching trip I remember ever taking. With appreciation and looking forward to future collaboration."