Thanks for visiting my personal website! On this website you can find information on a wide range of things which are either directly or indirectly of interest to me. And to be honest, I am interested in almost everything, so it is very hard for me to give this website an all encompassing title or theme; ‘Curious Brain’ was, unfortunately, the best I could think of …
Many congratulations to Joachim Schultze and his team, as well as all the other collaborators on this project, for completing this landmark study that was just published in Nature, and of course, glad that we as the Rhineland Study could contribute to this seminal work.
Link to the paper
Link to the DZNE press release
For anyone interested in the correlates and temporal dynamics of SARS-CoV-2 neutralizing antibodies, as well as a method to directly estimate the (substantial) effect of self-selection bias in seroprevalence studies: Please see our paper that was just published in Nature Communications:
Many thanks to all participants, study assistants, technical and supporting staff and researchers of the Rhineland Study, as well as our colleagues at the Institute of Virology at Charité for their indispensable contributions.
Link to the DZNE press release
The prevalence of carriers of intermediate and pathological range polyglutamine disease-associated alleles is much higher in the general population than previously thought. So a substantially higher number of individuals may be at risk of developing a polyglutamine disease (including Huntington disease and spinocerebellar ataxias) later in life or bearing children with a de novo mutation (given the well-known germ-line instability of longer alleles) than previously assumed. See our study on this topic recently published in JAMA Neurology (https://lnkd.in/dU8Aehi) and the accompanying editorial (https://lnkd.in/dXkhFWk).
Our recent paper on the influence of bioenergetics on age of onset in Huntington disease is highlighted in the 2018 Year in Review by Neurology Genetics! The editors also discuss several other highlights in the field which are also definitely worth reading.
In close collaboration with colleagues from the Alzheimer Centre in Amsterdam, we recently made the intriguing observation that disease expression in Alzheimer disease is modulated by common CAG repeat length variations, especially those in ATXN1 and AR (link to the paper), providing further support for the notion that DNA repeat polymorphisms could be an under-appreciated class of genetic modifiers of brain structure and function in health and disease.
In case you have missed it: The results of the Ionis phase I huntingtin-lowering trial were announced on 11 December 2017 and appear very promising (BBC, The Guardian, CNN). The antisense oligonucleotide-based drug, IONIS-HTTRx, not only appeared to be safe and well-tolerated, but according to the company’s press-release, also dose-dependently decreased mutant huntingtin levels which “substantially exceeded expectations”. Grateful for having been able to make a small contribution to this major breakthrough as part of Professor Sarah Tabrizi’s clinical research team. We have now started the open lable extension study and I am very hopeful that we have taken a large step forward in finding a treatment for this devastating disease, although we are not there yet!
Using data from the Allen Human Brain Atlas and in collaboration with the Delft Bioinformatics Lab and we recently showed that co-expression patterns between the polyglutamine-disease associated genes ATN1 and ATXN2 coincide with brain regions affected in Huntington disease. The article is fully open acces and available here.
Our recent article provides yet further support for the role of DNA repeat polymorphisms as important, but still underappeciated, genetic modifiers of depression in the general population.
Results of our recent study, showing that a higher body mass index (BMI), is associated with a slower disease progression in Huntington disease were just published in the Annals of Neurolgy (link).