About M. (Mark) Drost, PhD
Introduction
I work as a Clinical Laboratory Geneticist at the Erasmus MC. My focus lies in the development and implementation of new genetic technologies, mainly from within the Translational and Functional Genomics group, focusing on faster and more informative diagnostic workflows.
My work includes establishing long-read sequencing applications for ultrarapid testing for critically ill patients, extending rapid approaches to prenatal testing, and improving assays for short tandem repeat–related disorders. Also, I draw on my background in functional testing and RNA splicing analysis to refine variant interpretation and strengthen the clinical utility of emerging methods.
Field(s) of expertise
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Development and implementation of (rapid) genetic testing workflows
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Prenatal genetic diagnostics
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Long-read sequencing technologies
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Assays for short tandem repeat–related disorders
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Functional testing and classification of genetic variants
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RNA splicing analysis and interpretation
Education and career
PhD - Leiden University Medical Center, Dept. of Toxicology
“Functional assay to diagnose gene variants in Lynch syndrome”
Postdoc - Leiden University Medical Center, Dept. of Human Genetics
Laboratory specialist - Erasmus MC Rotterdam, Dept. of Clinical Genetics
Publications
https://pure.eur.nl/en/persons/mark-drost/
1. Authors: Smits DJ*, Ferraro F*, Drost M*, Kleefstra T, Rots D*, Verhoeven VJM*.
“Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.”
Published: Eur J Hum Genet. 2025 Oct 20. doi: 10.1038/s41431-025-01959-x
2. Authors: Drost M*, Dekker J*, Ferraro F*, Saris JJ, Nellist M, van Ham TJ.
Title: “Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.”
Published: HGG Adv. 2025 Sep 22;7(1):100521. doi: 10.1016/j.xhgg.2025.100521
3. Authors: Ferraro F, Drost M, van der Linde H, van Ham TJ, Kleefstra T, Rots D
Title: “Training with synthetic data provides accurate and openly available DNA methylation classifiers for developmental disorders and congenital anomalies via MethaDory.”
Published: medRxiv 2025; doi: https://doi.org/10.1101/2025.03.28.25324859
4. Authors: Ferraro F*, Kühn N*, Rots D, Drost M, van Ham TJ.
Title: “Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome.”
Published: HGG Adv. 2025 Sep 27:100523. doi: 10.1016/j.xhgg.2025.100523
5. Authors: Van Gool IC, Rayner E, Osse EM, Nout RA, Creutzberg CL, Tomlinson IPM, Church DN, Smit VTHBM, de Wind N, Bosse T, Drost M.
Title: “Adjuvant Treatment for POLE Proofreading Domain-Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues.”
Published: Clin Cancer Res. 2018 Jul 1;24(13):3197-3203. doi: 10.1158/1078-0432.CCR-18-0266
6. Authors: Drost M, Lützen A, van Hees S, Nielsen FC, Rasmussen LJ, de Wind N.
Title: “Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.”
Published: Proc Natl Acad Sci U S A. 2013 Jun 4;110(23):9403-8. doi: 10.1073/pnas.1220537110
7. Authors: Drost M, Tiersma Y, Thompson BA, Frederiksen JH, Keijzers G, Glubb D, Kathe S, Osinga J, Westers H, Pappas L, Boucher KM, Molenkamp S, Zonneveld JB, van Asperen CJ, Goldgar DE, Wallace SS, Sijmons RH, Spurdle AB, Rasmussen LJ, Greenblatt MS, de Wind N, Tavtigian SV.
Title: “A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.”
Published: Genet Med. 2019 Jul;21(7):1486-1496. doi: 10.1038/s41436-018-0372-2
Teaching activities
(Co)supervisor:
2018: Inge van Gool “Somatic POLE exonuclease domain mutations in endometrial cancer: Insights into the biology of POLE-mutant tumors.”
(Guest) lecturer for Bachelors/Master students Medicine, Neurologists in training, Metabolic specialists, Technicians, etc.
Cowriter of the education plan for Clinical Laboratory Geneticist in training
