At a Glance
PhD Graduations
In 2021, ten PhD candidates from the Department of Human Genetics successfully defended their PhD thesis and acquired the title of Doctor of Philosophy (PhD) at the University of Amsterdam or at the Vrije Universiteit Amsterdam.
De Krijger, I. Control of repair activities at DNA double strand breaks and telomeres.
Supervisors: van Lohuizen, M.M.S., Jacobs, J.J.L. Section Genome Analysis.
Van den Heuvel, L.M. Informing relatives at risk of inherited (cardiac) conditions: On our way towards the best approach.
Supervisors: Van Tintelen, P.P., Smets, E.M.A., Christiaans, I. Section Community Genetics.
Kleinendorst, L. Genetic obesity: Disorders and diagnostics.
Supervisors: Meijers-Heijboer, Elizabeth J., Mannens, Marcel M.A.M., Van Haelst, M.M., Van den Akker, E.L.T. Sections Clinical Genetics and Genome Analysis.
Thesis defense Lotte Kleinendorst, PhD
Sections Clinical Genetics and Genome Analysis
Chilunga, F.P. Beyond the traditional risk factors for cardiometabolic diseases among transitioning African populations: An investigation into novel epidemiological and epigenetic factors.
Supervisors: Agyemang, Charles O., Requena-Méndez, Ana, Mannens, Marcel M.A.M., Henneman, Peter. Section Genome Analysis.
Persoon, C.M. Neuropeptide secretion principles: Vesicle populations, characteristics and fusion mechanisms.
Supervisors: Verhage, Matthijs, Toonen, R.F.G. Section Functional Genomics.
Van Westen-Erbrink, R.M. Molecular mechanisms of Ca2+-dependent neuropeptide secretion.
Supervisors: Verhage, Matthijs, Toonen, R.F.G. Section Functional Genomics.
Benedict, B. Vulnerabilities of cancer cells suffering from DNA replication stress.
Supervisors: Te Riele, Henricus, Foijer, F., Wolthuis, Rob. Section Oncogenetics.
Aslam, M.A. Decoding lymphocyte development and differentiation.
Supervisors: Te Riele, Henricus, Jacobs, Hans, Van Leeuwen, Fred. Section Oncogenetics.
Martens, F.K. Polygenic risk prediction of common diseases: Design, evaluation and interpretation of prediction studies.
Supervisors: Cornel, Martina, Janssens, Cecile, Tonk, Ilse. Section Community Genetics.
Stuurman, K.E. Increased nuchal translucency: From etiology to clinical consequences.
Supervisors: Meijers-Heijboer, Hanne, Henneman, Lidewij, Elting, Mariet. Sections Clinical Genetics and Community Genetics.
Project Funding and Grants
Scientists at the Department of Human Genetics continued to be successful in attracting competitive funding to initiate or continue vital projects to shape the future of DNA diagnostics and genetic medicine. Collectively, nearly € 10 million in funding was acquired in 2021. Below, we highlight some of the prestigious grants that were obtained.D
Prof. Matthijs Verhage, co-founder of the BRAINMODEL consortium, section Functional Genomics. Project: ‘Multidisciplinary Consortia Programme Pluripotent Stem cells for Inherited Diseases and Embryonic Research (PSIDER).’ ZonMw. € 4,000,000.
Dr. Henne Holstege, section Genomics of Neurodegenerative Diseases and Aging. Project: ‘Spotlight on the neglected genome to escape dementia.’ VIDI, Dutch Research Council (NWO). € 920,000.
Dr. Henne Holstege, section Genomics of Neurodegenerative Diseases and Aging. Project: ‘AD-REPEAT: Comparison of genetic repeat expansions between Alzheimer’s Disease patients and cognitively healthy centenarians.’ Topconsortium voor Kennis and Innovatie Life Sciences & Health and Innovation Exchange Amsterdam grant for Public-Private Partnerships. € 917,955.
Dr. Erik Sistermans, section Genome Analysis. ‘Implementation non-invasive prenatal test (NIPT).’ National Institute for Public Health and the Environment (RIVM). € 983,891.
Dr. Rob Wolthuis, section Oncogenetics. ‘Safeguarding the human genome by the ELOF1 network: at the crossroads of transcription, repair and replication.’ Dutch Research Council (NWO). € 325,000.
Dr. Wiep Scheper, section Functional Genomics. Setting up an in vitro model for tau and alpha synuclein co-pathology to test Discoveric Bio alpha antibodies. Discoveric Bio alpha. € 255,215.
Scientific Publications
In 2021, a total of 292 peer-reviewed scientific articles were published by researchers affiliated with the Department of Human Genetics. Below, we highlight a select number of scientific publications to illustrate the broad scope and impact of our collective efforts to pursue new knowledge for the benefit of human well-being.
Beekhuis-Hoekstra, S.D., et al. 2021, Systematic assessment of variability in the proteome of iPSC derivatives. Stem Cell Research, 56, 102512. https://doi.org/10.1016/j.scr.2021.102512
Chilunga, F.P., et al. (2021) Epigenetic-age acceleration in the emerging burden of cardiometabolic diseases among migrant and non-migrant African populations: a population-based cross-sectional RODAM substudy. The Lancet Healthy Longevity, 2, e327-e339. https://doi.org/10.1016/S2666-7568(21)00087-8
De Ruiter, R.D., et al. (2021) Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop. Frontiers in Endocrinology, 12, 732728. https://doi.org/10.3389/fendo.2021.732728
Glykofridis, I.E., et al (2021) Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells. eLife, 10, e61630. https://doi.org/10.7554/eLife.61630
Holstege, H., et al. (2021), Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer’s disease. Alzheimer's Dement., 17: e055982. https://doi.org/10.1002/alz.055982
Jansen, M.E., et al. (2021) Opportunistische farmacogenetische screening DNA-data gebruiken die al beschikbaar zijn. Nederlands Tijdschrift voor Geneeskunde, 165, D5130.
Moro, A., et al. (2021) Dynamin controls neuropeptide secretion by organizing dense-core vesicle fusion sites. Science Advances, 7, eabf0659. https://doi.org/10.1126/sciadv.abf0659
Lo Faro, V., et al. (2021) Mitochondrial Genome Study Identifies Association Between Primary Open-Angle Glaucoma and Variants in MT-CYB, MT-ND4 Genes and Haplogroups. Frontiers in Genetics, 12, 781189. https://doi.org/10.3389/fgene.2021.781189
Rigter, T., et al. (2021) Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe. European Journal of Human Genetics, 29, 1477-1484. https://doi.org/10.1038/s41431-021-00877-y
Sadikovic, B., et al. (2021) Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders. Genet. Med., 23, 1065–1074. https://doi.org/10.1038/s41436-020-01096-4
Tesi, N., et al. (2021) 'SnpXplorer: A web application to explore human SNP-associations and annotate SNP-sets. Nucleic Acids Research, 49, pp. W603-W612. https://doi.org/10.1093/nar/gkab410
Van den Akker, E.B., et al. (2021) Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian. Leukemia, 35, 2125–2129. https://doi.org/10.1038/s41375-020-01086-0
Van der Meij, K.R.M., et al. (2021) Uptake of fetal aneuploidy screening after the introduction of the non-invasive prenatal test: A national population-based register study. Acta Obstet Gynecol Scand., 100: 1265– 1272. https://doi.org/10.1111/aogs.14091
Van der Weegen, Y., et al. (2021) ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation. Nat. Cell Biol., 23, 595–607. https://doi.org/10.1038/s41556-021-00688-9ts
Van Westen, R., et al. (2021) Neuromodulator release in neurons requires two functionally redundant calcium sensors. PNAS, 118, e2012137118. https://doi.org/10.1073/pnas.2012137118
Wagstaff, P.E., et al. (2021) An alternative approach to produce versatile retinal organoids with accelerated ganglion cell development. Sci. Rep., 11, 1101. https://doi.org/10.1038/s41598-020-79651-x
Appointments
Health Council of the Netherlands
Professor Martina Cornel was appointed to the Health Council of the Netherlands (‘Gezondheidsraad’) by Royal Decree for another term of four years. Health Council of the Netherlands is an independent scientific advisory body for government and parliament consisting of 111 members.
Research Institute Amsterdam Public Health
Dr. Tessel Rigter was appointed leader of the program ‘Personalized Medicine’ of Amsterdam UMC research institute Amsterdam Public Health (APH).
In the media
- The long and carefully considered path to the NIPT prenatal test – Prof. Lidewij Henneman and Dr. Erik Sistermans.
- How can society regulate and afford CRISPR therapies? – Prof. Martina Cornel and Dr. Tessel Rigter. CRISPR Medicine News
- Uptake of NIPT lower in disadvantaged neighborhoods – Dr. Karuna van der Meij. Contemporary OB/GYN
- The Secrets of ‘Cognitive Super-Agers’ – Dr. Henne Holstege. The New York Times
Facts and Figures
| Research output | |
|---|---|
|
Refereed articles: |
292 |
|
Non-refereed articles: |
23 |
|
Book chapters: |
2 |
|
Professional publications: |
3 |
|
Publications aimed at the general public: |
3 |
|
Other research output: |
4 |
Total: |
327 |
Colophon
Editorial board
Esther Pos, Henri van de Vrugt, Irene Kroon, José Roest, Lies Egberts, Rob Wolthuis, and Rogier Postma.
Project management, writing, editing, & translation
Design & Layout
Susette Solórzano & Dorian Carcuz
Photos
Sebastiaan de Leng, Adobe Stock, and Amsterdam UMC Image Library
Date of Publication
September 2022
Contact:
Department of Human Genetics
Amsterdam UMC
Location AMC
Meibergdreef 9
1105 AZ Amsterdam
The Netherlands
Email: stafsecrhga@amsterdamumc.nl
Parts of this Annual Review previously appeared in publications by Amsterdam UMC and the Centre for Neurogenomics and Cognitive Research.
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