VISSERS Lisenka

I am a pioneer of the translation of genetic research into clinical diagnostics. I started my scientific career with a PhD project in the optimization of high-throughput technologies for the detection of genetic causes underlyinghuman disease, and intellectual disability (ID) disorders in particular. Using such new technologies, I was able to identify several novel syndromes (e.g. Koolen-de Vries syndrome) and discover multiple disease-genes (e.g. CHD7 for CHARGE syndrome), publishing her findings in high-impact journals. My research also strongly contributed to the implementation of microarray-based comparative genomic hybridization as routine diagnostic test for the detection of submicroscopic alterations in routine clinical practice. The application of this technology allowed me to define the diagnosis for 15% of patients, producing the strong increase the effectiveness of clinical diagnostic services.
In the last 5 years, I demonstrated an exceptional talent for bridging the gap from research to clinic, resulting in a strong record of productive and successful translational research in novel state-of-the-art genome-wide technologies, including exome and genome sequencing for (de novo) mutation detection. The latter fostered fundamental research into mutational mechanisms, significantly shifted paradigms for medical genetic disorders with reproductive lethality, and enabled a diagnosis in ~60% of ID patients. Moreover, I have developed novel (statistical) frameworks to identify novel candidate genes for neurodevelopmental disorders, including large-scalemeta-analysis of existing exome data, clustering of de novo mutations enriched for genes exerting their effect by gain-of-function and/or dominant negative effects, and the use of large-scale re-sequencing technologies to verify the true nature of candidate disease genes. With an H-factor of 70, I have (co-)authored >180 publications in peer-reviewed journals (i10-index 145). Highlights include >10 publications in Nature Genetics, >20 in the American Journal of Human Genetics, and senior authorships in the New England Journal of Medicine, Nature Medicine, Nature Genetics and Nature.
Collectively, my pioneering translational work on the cutting edge of genetic research and clinical diagnostics has significantly changed the field of medical genetics. My unique skills to integrate various genomics technologies has provided novel diagnostic strategies, which allowed the identification of >85 novel disease genes, provided fundamental scientific new insights, but also allowed a conclusive molecular diagnosis to be made in tens of thousands of patients worldwide.