Cleo van Diemen, PhD

Study: Biology at Leiden University

PhD thesis: Genetics of lung function decline and COPD development, 2008, University of Groningen

Email

See all my papers in PubMed, Google Scholar

Keywords

5GPM, next generation sequencing, genetic diagnostics, genetic association, epidemiology, inflammatory disorders

Research

For my PhD at the Dept. of Epidemiology, University of Groningen, I studied the genetics of lung function decline and the development of chronic obstructive pulmonary disease (COPD) in different populations, including prospective cohorts of the general population, a genetically isolated population, and two patient cohorts with different stages of COPD. After my PhD, I joined the group of Prof. Cisca Wijmenga in the Dept. of Genetics, UMCG, as a postdoc. I have worked on genetic risk models for celiac disease, performed functional genomics studies, including gene expression studies in patients with inflammatory bowel disease (IBD), and performed high-throughput sequencing studies to identify causal variants in genes associated to multiple immune-related diseases. In 2010, I was awarded an NWO Horizon grant for a project entitled, “Identifying biomarkers for immune-related diseases using genome-wide ribosomal-associated RNA expression profiles”.

Since 2013 I have been working as a staff member in the Development and Innovation section, headed by Rolf Sijmons, and my research has been focused on implementing new genetic tools into clinical practice. One of my major projects has been the implementation of rapid whole genome sequencing of critically ill newborns (the 5GPM or Five genes per minute project). Other current projects that I am working on are implementing RNA sequencing as a diagnostic tool in clinical practice and studying the role of mutations in noncoding DNA in monogenic diseases. In addition, I continue to work on the genetics of non-smoking COPD in collaboration with the departments of Epidemiology and Lung diseases of the UMCG and the department of Genetic Epidemiology of the Erasmus MC via a consortium grant from the Dutch Lung Foundation (Longfonds).

Selected publications

• Participation in interdisciplinary meetings on genetic diagnostics (NGS) Koole T, van Burgsteden L, Harms P; 5GPM-team, van Diemen CC, van Langen IM. Eur J Hum Genet. 2017 Aug 23. doi: 10.1038/ejhg.2017.111.
• GAVIN: Gene-Aware Variant INterpretation for medical sequencing Van der Velde KJ, de Boer EN, van Diemen CC, Sikkema-Raddatz B, Abbott KM, Knopperts A, Franke L, Sijmons RH, de Koning TJ, Wijmenga C, Sinke RJ, Swertz MA. Genome Biol. 2017 Jan 16;18(1):6. Free PMC Article
• The emerging landscape of dynamic DNA methylation in early childhood Xu CJ, Bonder MJ, Söderhäll C, Bustamante M, Baïz N, Gehring U, Jankipersadsing SA, van der Vlies P, van Diemen CC, van Rijkom B, Just J, Kull I, Kere J, Antó JM, Bousquet J, Zhernakova A, Wijmenga C, et al. BMC Genomics. 2017 Jan 5;18(1):25. Free PMC Article
• van der Plaat DA, de Jong K, Lahousse L, Faiz A, Vonk JM, van Diemen CC, Nedeljkovic I, Amin N, Obeidat M, van Duijn CM, Boezen HM, Postma DS. The Well-Known Gene HHIP and Novel Gene MECR Are Implicated in Small Airway Obstruction Am J Respir and Crit Care Med 2016;194(10), 1299-1302.
• Visschedijk MC, Alberts R, Mucha S, Deelen P, de Jong DJ, Pierik M, van der Meulen-de Jong AE, van der Woude CJ, van Bodegraven AA, Oldenburg B, Lowenberg M, Dijkstra G, Ellinghaus D, Schreiber S, Wijmenga C, Rivas MA, Franke A, van Diemen CC, Weersma RK. Pooled resequencing of 122 ulcerative colitis genes in a large Dutch population suggests population-specific association of rare variants in MUC2 J Crohns and Colitis 2016;10, S479-S480.
• van der Velde KJ, de Boer EN, van Diemen CC, Sikkema-Raddatz B, Abbott K, Knopperts A, Franke L, Sijmons R, de Koning TJ, Wijmenga C, Sinke R, Swertz M GAVIN-Gene-Aware Variant INterpretation for medical sequencing bioRxiv, 072330
• Jazayeri O, Liu X, van Diemen CC, Bakker-van Waarde WM, Sikkema-Raddatz B, Sinke RJ, Zhang J, van Ravenswaaij-Arts CMA. A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD) Euro J  Med Gen 2015;58(12), 642-649.
• Fransen K, van Sommeren S, Westra H-J, Veenstra M, Lamberts LE, Modderman R, Dijkstra G, Fu J, Wijmenga C, Franke L, Weersma RK, van Diemen CC. Correlation of genetic risk and messenger RNA expression in a Th17/IL23 pathway analysis in inflammatory bowel disease Inflammatory Bowel Diseases 2015;20(5), 777-782.
• Romanos J, A Rosén, Kumar V, Trynka G, Franke L, Szperl A, Gutierrez-Achury J, van Diemen CC et al. Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants Gut 2014;63(3), 415-422.
• Smeekens SP, Ng A, Kumar V, Johnson MD, Plantinga TS, Van Diemen CC, Gresnigt MS, Fransen K, van Sommeren S, Oosting M, Cheng S-C, Joosten LAB, Scott WK, Perfect JR. An integrated transcriptomic and functional genomic approach identifies a type I interferon signature as a host defense mechanism against Candida albicans in humans Nat Com 2013;4(1342), 10.1038
• Smeekens SP, Ng A, Kumar V, Johnson MD, Plantinga TS, Van Diemen CC, Arts P, Verwiel ETP, Gresnigt MS, Fransen K, van Sommeren S, Oosting M, Cheng S-C, Joosten LAB, Hoischen A, Kullberg B-J, Scott WK, Perfect JR, Van Der Meer JWM, Wijmenga C, Netea MG, Xavier RJ. Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans Nat Com 2013;4, 1342.
• Fransen K, Mitrovic M, Van Diemen CC, Thelma BK, Sood A, Franke A, Schreiber S, Midha V, Juyal G, Potocnik U, Fu J, Nolte I, Weersma RK. Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci PLoS One 2012;7(9), e45287.