Trainee Paper Spotlight: Arne De Roeck

Trainee Author: Arne De Roeck, M.Sc
PhD Student, Neurodegenerative Brain Diseases Group
VIB-UAntwerp Center for Molecular Neurology
(Photo courtesy De Roeck)

De Roeck A, et al. An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease. Acta Neuropathologica. 2018 Mar 27;135(6)

This paper underscores the importance of considering non-coding variation while searching for the causal loci underlying GWAS associations. In this work, Arne De Roeck and colleagues identify a variable number tandem repeat (VNTR) in an intron of ABCA7 whose length associates with both a previously discovered GWAS SNP for Alzheimer’s disease and biomarkers for disease progression.

An alternatively spliced isoform of ABCA7 lacking a key nucleotide binding domain sequence is abundant in the brain and tightly correlates with the VNTR length. This work is a prime example of how to drill down on a disease-associated locus to identify a causal genetic element.

ASHG: Could you describe your research for us?

Mr. De Roeck: In my research, I use a wide variety of genetic technologies, ranging from Southern blotting to third generation sequencing, to study structural variants in genetic risk loci of Alzheimer’s disease. I conduct both wet-lab experiments and develop novel algorithms to improve bioinformatic characterization of complex genetic variants.

ASHG: What are your career goals?

Mr. De Roeck: Ultimately, I’m seeking a job that is challenging and creative, either in academia or industry. I have a strong affinity with the genetics field, but I’m very open minded about other opportunities. I also aspire a job in which I can use and develop my leadership skills.

ASHG: Why did you choose genetics as your field of study?

Mr. De Roeck: To me, genetics is the purest and most interesting way to study biology. In addition, Alzheimer’s disease is a disorder that is very difficult to research, and genetics is one of the only ways to differentiate cause from consequence. I also enjoy working with the bioinformatics and biostatistics that are needed to make sense out of big genomic datasets.

ASHG: If you could pick three words that describe yourself, what would they be?

Mr. De Roeck: Problem-solver, passionate, creative.

Twitter: @aRnedeRoeck

The Trainee Paper Spotlight highlights outstanding papers written by trainee members of ASHG.  Submit your science to be featured, and join the ASHG Trainee Forum to keep up with new ones.

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