At a Glance
PhD Graduations
In 2023, 14 PhD candidates from the Department of Human Genetics successfully defended their theses and were awarded Doctor of Philosophy (PhD) degrees from the University of Amsterdam, Vrije Universiteit Amsterdam, Technical University Delft, and the University of Strasbourg.
PhD graduations at University of Amsterdam:
Judith Ensink – Childhood adversity and PTSD in youth – (epi) genetics & treatment effects. Supervisors: Prof. R.J.L. Lindauer & Prof. M.M.A.M. Mannens, co-supervisors: Dr. P. Henneman & Prof. C.M. Middeldorp. Sections Genome Analysis & Epigenetics.
Shumet T. Gengnaw – The connection between circadian clock impairment and retinal disease. Supervisors: Prof. A.A.B. Bergen and Dr. M.P. Felder Schmittbuhl (University of Strasbourg). Section Ophthalmogenetics.
Isthu L. Hageman - Novel Biomarkers to guide therapy in chronic inflammatory diseases. Supervisors: Prof. W.J. de Jonge & Prof. G.R.A.M. D'Haens, co-supervisors: Dr. T.B.M. Hakvoort & Dr. P. Henneman. Section Epigenetics.
Vincent W. Joustra - Pharmaco-epigenetic biomarkers and optimization of post-operative management in inflammatory bowel disease. Supervisors: Prof. G.R.A.M. D'Haens & Prof. W.J. de Jonge, co-supervisors: Dr. P. Henneman & Dr. A.Y.F. Li Yim. Section Epigenetics.
Eline Overwater – Next generation sequencing in clinical practice. Supervisors: Prof. E.J. Meijers-Heijboer, co-supervisors: Dr. A.C. Houweling & Dr. A. Maugeri. Section Clinical Genetics.
Eva L. van der Linden - Epidemiology and epigenetics of Cardiovascular risk in African migrants. Supervisors: Prof. C.O. Agyemang & Prof. B.J.H. van den Born, co-supervisor: Dr. P. Henneman. Section Epigenetics.
Eline Verberne - Dutch Caribbean Genetics: Diagnostics of congenital anomalies and genetic disorders in small island communities. Supervisors: Prof. M.M.A.M. Mannens, co-supervisors: Prof. M.M. van Haelst & Dr. G.M. Ecury-Goossen. Sections Genome Analysis & Clinical Genetics.
PhD graduations at Vrije Universiteit Amsterdam:
Andrea Ganz - The brains of cognitively healthy centenarians. Supervisors: Prof. A.B. Smit & Dr. Henne Holstege, co-supervisors: Dr. Ka Wan Li & Dr. Jeroen J.M. Hoozemans. Section Genomics of Neurodegenerative Diseases and Aging.
Khash Roohollahi - Translational Bioinformatics in Hereditable Cancer Susceptibility Diseases. Supervisor: Prof. E.A. Sistermans, co-supervisor: Dr. J.C. Dorsman. Section Oncogenetics.
Janne van Schie - The Interplay of Cohesin and DNA Replication in Sister Chromatid Cohesion. Promotoren Prof. H.P.J te Riele & Prof. E.J. Meijers-Heijboer, copromotoren: Dr. J. de Lange & Dr. R.M.F. Wolthuis. Section Oncogenetics.
Silvia Storoni - Osteogenesis imperfecta: New insights into extraskeletal complications. Supervisors: Dr. E.M.W. Eekhoff & Prof. J.G. van den Aardweg, co-supervisors: Dr. D. Micha & Dr. M. Bugiani. Section Center for Connective Tissue Disease.
Sanne Treurniet - Skeletal and extraskeletal characteristics of rare bone disorders with special focus on osteogenesis imperfecta. Supervisors: Dr. E.M.W. Eekhoff, Dr. N. Bravenboer & Prof. A.A. Lammertsma, co-supervisor: Dr. D. Micha. Section Center for Connective Tissue Disease.
Maurike de Groot-van der Mooren - Impact of prenatal screening on the epidemiology of Down syndrome in the Netherlands: a neonatal perspective. Supervisors Prof. M.C. Cornel & Prof A. van Kaam; co-supervisor: Dr. M. Weijerman. Section Community Genetics & Public Health Genomics.
PhD graduation at TU Delft
Meng Zhang - Alzheimer’s disease, Aging and Centenarians. Supervisors: Prof. M.J.T. Reinders, co-supervisor: Dr. H. Holstege. Section Genomics of Neurodegenerative Diseases and Aging.
Inaugural Lectures
Prof. Erik Sistermans - Professor of Human Genetics, in particular prenatal genome diagnostics, Vrije Universiteit Amsterdam. February 10, 2023.
Prof. Mieke van Haelst - Professor of Clinical Genetics, University of Amsterdam. March 10, 2023.
Project Funding and Grants
Bergen, A.A.B. - Research on Albinism. Foundation Friends of the Netherlands institute for Neuroscience. € 125,000. Section Ophthalomogenetics.
Van El, C. - Catalyst-project (Pharmacogenomics) for the EU Horizon Europe project ‘PROPHET’. Incentive EU_RVO regulation, the Dutch Research Council (NWO). € 44,000. Section Community Genetics & Public Health Genomics.
Freal, A. – ‘PLaisTICITY’. ERC Starting Grant. € 1,500,000. Section Functional Genomics.
Holstege, H., as member of a national consortium. - Influencing Risk Factors for Prevention of Dementia - Dutch Consortium for Knowledge Development (BIRD-NL). ZonMW. Section Genomics of Neurodegenerative Diseases and Aging.
Holstege, H., De Strooper, B., & Stevens, B. - Neuroimmune Project: Analyzing the effect of complex genetic risk of Alzheimer’s disease on microglia responses in health and disease conditions. Alzheimer’s Strategic Fund, Alzheimer Association. $ 867,431.29 USD. Section Genomics of Neurodegenerative Diseases and Aging.
Hubers, N., Boomsma, D.I., & Henneman, P., et al. - The Epigenetic signature of monozygotic twinning in pre- and perinatal tissues: a new collaboration between the department of Human Genetics, the Dutch Fetal Biobank, the PANDA obstetrics biobank, and the Netherlands Twin Register. Research institute: Amsterdam Reproduction and Development (AR&D), Amsterdam UMC. € 50,000. Section Epigenetics.
Scheper, W. - Lysosomal dysfunction. The Dutch Research Council (NWO). € 730,000. Section Functional Genomics.
Awards and Prizes
ZonMw Pearl. A national consortium involving researchers from the sections Community Genetics and Genome Diagnostics received the prestigious ZonMW Pearl award 2023 for the NIPT Consortium TRIDENT-2 study. Read more here.
National Snellen Penning Award. Prof. Arthur Bergen. Read more here.
Scientific Publications
Highlighted below are various scientific publications by our researchers from 2023, showcasing the extensive range and significant impact of our collective efforts to advance knowledge for human well-being.
Van de Beek, I., Glykofridis, I.E., Oosterwijk, J.C., et al. (2023). PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis. Hum Mol Genet. 32(7):1223-1235. doi: 10.1093/hmg/ddac288. Sections Oncogenetics & Genome Analysis.
Van de Beek, I., Glykofridis, I.E., Tanck, M.W.T., et al. (2023). Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. J Hum Genet. 68(4):273-279. doi: 10.1038/s10038-022-01113-1. Sections Genome Analysis & Oncogenetics.
Chaney, H., Mekking, D., De Bakker, D., et al. (2023). Key4OI Recommendations for Lung Function Guidance in Osteogenesis Imperfecta: Based on an Internationally Performed Comprehensive International Consortium for Health Outcomes Measurement Procedure. Chest. 163(5):1201-1213. doi: 10.1016/j.chest.2022.12.047. Section Center for Connective Tissue Disease.
Claeys, L., Zhytnik, L., Wisse, L.E., et al. (2023). Exploration of the skeletal phenotype of the Col1a1 +/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1. Front Endocrinol (Lausanne). 14:1145125. doi: 10.3389/fendo.2023.1145125. Section Center for Connective Tissue Disease.
Diks, A.M., Teodosio, C., De Mooij, B., et al. (2023). Carriers of the p.P522R variant in PLCγ2 have a slightly more responsive immune system. Mol Neurodegener. 18(1):25. doi: 10.1186/s13024-023-00604-9. Section Genomics of Neurodegenerative Diseases and Aging.
Emri, E., Cappa, O., Kelly, C., et al. (2023). Zinc Supplementation Induced Transcriptional Changes in Primary Human Retinal Pigment Epithelium: A Single-Cell RNA Sequencing Study to Understand Age-Related Macular Degeneration. Cells. 12(5):773. doi: 10.3390/cells12050773. Section Ophthalmogenetics.
Feringa, F.M., Van Berkel, A.A., Nair, A., et al. (2023) An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1. J. Neuroscience. doi: 10.1523/JNEUROSCI.0611-22.2022. Section Functional Genomics.
Helderman, N.C., Van Der Werf-’t Lam, A.S.; MSH6 TUMOR GROUP. (2023). Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome-Associated Colorectal Carcinomas. Gastroenterology. 165(1):271-274.e2. doi: 10.1053/j.gastro.2023.03.198. Section Clinical Genetics.
Jansen, M.E., Rigter, T., Fleur, T.M.C., et al. (2023). Predictive Value of SLCO1B1 c.521T>C Polymorphism on Observed Changes in the Treatment of 1136 Statin-Users. Genes. 14:456. doi: 10.3390/genes14020456. Section Community Genetics & Public Health.
Jansen, R.W., De Bloeme, C.M., Cardoen, L., et al. (2023). MRI Features for Identifying MYCN-amplified RB1-Wild-type Retinoblastoma. Radiology. 307(5). doi: 10.1148/radiol.222264 Section Clinical Genetics.
Van den Heuvel, L.M., Kater-Kuipers, A., Van Dijk, T., et al. (2023). A qualitative study on the perspectives of mothers who have been diagnosed with primary carnitine deficiency through newborn screening of their child. Orphanet J of Rare Diseases. 18(1):134. doi: 10.1186/s13023-023-02735-0. Section Community Genetics & Public Health.
Kohabir, K.A.V., Nooi, L.O., Brink, A., et al. (2023). In Vitro CRISPR-Cas12a-Based Detection of Cancer-Associated TP53 Hotspot Mutations Beyond the crRNA Seed Region. CRISPR J. 6(2):127-139. doi: 10.1089/crispr.2022.0077. Sections Genome Analysis & Oncogenetics.
Krzyzewska, I.M., Lauffer, P., Mul, A.N., et al. (2023). Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD). Int J Mol Sci. doi: 10.3390/ijms24076601. Section Epigenetics.
Van der Laan, L., Karimi, K., Rooney, K., et al. (2023). DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7. Genet Med. doi: 10.1016/j.gim.2023.101050. Section Epigenetics.
Maas, S.M., Krzyzewska, I.M., Lombardi, M.P.R., et al. (2023). Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing? Eur J Hum Genet. 31(6):615-616. doi: 10.1038/s41431-023-01354-4. Section Genome Analysis.
Van der Meij, K.R.M., Van de Pol, Q.Y.F., Bekker, M.N., et al. (2023). Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program. Eur J Hum Genet. 31:555–561. doi: 10.1038/s41431-022-01248-x. Section Community Genetics & Public Health.
Nguyen, X.T., Moekotte, L., Plomp, A.S., et al. (2023). Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies. Int J Mol Sci. 24(8):7481. doi: 10.3390/ijms24087481. Section Ophthalmogenetics.
Reurink, J., Weisschuh, N., Garanto, A., et al. (2023). Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction. HGG Adv. 4(2):100181. doi: 10.1016/j.xhgg.2023.100181. Section Ophthalmogenetics.
Rooney, K., Van der Laan, L., Trajkova, S., et al. (2023). DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder. Genet Med. doi: 10.1016/j.gim.2023.100871. Section Epigenetics.
Van Schie, J.J.M., De Lint, K., Molenaar, T.M., et al. (2023). CRISPR screens in sister chromatid cohesion defective cells reveal PAXIP1-PAGR1 as a regulator of chromatin association of cohesin. Nucleic Acids Res. 51(18):9594-9609. doi: 10.1093/nar/gkad756. Section Oncogenetics.
Stroot, I.A.S., Brouwer, J., Bart, J., et al. (2023). High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical Factors. J Clin Oncol. 41(14):2523-2535. doi: 10.1200/JCO.22.01237. Section Clinical Genetics.
Subkhangulova, A., Gonzalez-Lozano, M.A., Groffen, A.J.A., (2023) Tomosyn affects dense core vesicle composition but not exocytosis in mammalian neurons. eLife 12:e85561. doi: 10.7554/eLife.85561. Section Functional Genomics.
Tissier, R.L.M., Van Schie, J.J.M., Wolthuis, R.M.F., et al. (2023). ShrinkCRISPR: a flexible method for differential fitness analysis of CRISPR-Cas9 screen data. BMC Bioinformatics. 24(1):36. doi: 10.1186/s12859-023-05142-1. Section Oncogenetics.
Verdonk, S.J.E., Storoni, S., Zhytnik, L., et al. (2023). Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1. Calcif Tissue Int. 113(2):186-194. doi: 10.1007/s00223-023-01101-3. Section Center for Connective Tissue Disease.
Zhang, M., Ganz, A.B., Rohde, S., et al. (2023). The correlation between neuropathology levels and cognitive performance in centenarians. Alzheimers Dement. doi: 10.1002/alz.13087. Section Genomics of Neurodegenerative Diseases and Aging.
A Spotlight on Early-Career Scientists
Dr. Karuna van der Meij. Karuna was nominated (top 12) for the New Scientist Talent 2023, an award for the best young research talents in the Netherlands and Flanders. Section Community Genetics & Public Health.
In the Media
In response to the Health Council’s advice on Preconception Carrier Screening for the general population, Dr. Phillis Lakeman appeared on television (EenVandaag & Nieuwsuur) and NPO1 radio.
Fundraising
In September 2023, members of the section Genomics of Neurodegenerative Diseases and Aging raised € 22,000 for research into the hereditary factors of dementia during the Dam to Dam Run, which section members renamed into the ‘DNA to Dementia Run.’
Colophon
Project management
Irene Kroon
Editorial board
Irene Kroon, Mischa Hornman, José Roest, Dr. Henri van de Vrugt.
Writing, editing, & translation
New Haven Biosciences Consulting
Additional writing contributions
Prof. Marcel Mannens, Prof. Erik Sistermans, Prof. Lidewij Henneman, Prof. Mieke van Haelst, Dr. Ronald Lekanne Dit Deprez, Prof. Matthijs Verhage, Dr. Henne Holstege.
Design & Layout
Dr. Susette Solórzano & Prof. Dorian Carcuz
Photos
Adobe Stock, Amsterdam UMC Image Library, Shutterstock, and supplied by staff members.
Date of publication
June 2024
For more information and news about the Department of Human Genetics at Amsterdam UMC, visit our website https://humanegenetica.com/, LinkedIn page, or checkout our previous annual reviews:
English 
Dutch