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