At a Glance
Embracing Change for Progress
New Professors
Dr. Mieke van Haelst, appointed Professor of Clinical Genetics, University of Amsterdam, Section Clinical Genetics
Professor Mieke van Haelst
Dr. Mieke van Haelst was appointed full professor of Clinical Genetics in 2022. She received training in clinical genetics at Erasmus MC, Rotterdam and Great Ormond Street Hospital, London, UK. She obtained her doctorate at University College London, UK. Prof. Van Haelst has worked at Guy’s & St Thomas’ hospital and Northwick Park Hospital, London, and UMC Utrecht before accepting a position of head of Clinical Genetics at Amsterdam UMC.
Prof. Van Haelst’s clinical and translational research focuses on unravelling the pathogenicity of rare genetic disorders and accelerating personalized treatment. She is co-director of Emma Center for Personalized Medicine at Amsterdam UMC and president of the Dutch Society of Human Genetics. She has established genetic clinics, research, and education programs at the pediatric departments in the Dutch Caribbean, and aims to provide equal genetic care for diverse populations.
Professor Erik Sistermans
Dr. Erik Sistermans was appointed full professor of Human Genetics and Head of the Genome Diagnostics laboratory of Amsterdam UMC. His main research interest is in improving prenatal diagnostics and screening. He studied chemistry in Leiden and obtained his PhD degree in Nijmegen. He is a registered clinical laboratory geneticist since 1994.
Prof. Sistermans is project leader of the TRIDENT studies which resulted in the implementation of Non-Invasive Prenatal Testing (NIPT) in the Netherlands. He is (co)author of more than 140 papers in peer reviewed journals, the international Best Practice Guidelines, editorials, and book chapters. He is associate editor of the journal “Extracellular Vesicles and Circulating Nucleic Acids”.
Appointments
Dr. Amelie Freal and her research team joined the Centre for Neurogenomics and Cognitive Research in 2022 and is developing an independent research program on axon initial segment biology. Section Functional Genomics.
Education Building a Bright Future
Educating new generations of professionals in the field of Human Genetics is a top priority for members at our department. Genetics is one of the scientific fields where new concepts and technologies are being developed at lightning speed, presenting changes and challenges for care, research, and society as a whole. Our educational programs range from teaching basic principles in human genetics to advanced technological insights to unravel human disease.
“We teach students and junior medical doctors how to integrate and further develop knowledge and skills in the genetics underlying health and disease.” Dr. Petra Zwijnenburg, Clinical geneticist, pediatrician, Department of Human Genetics.
In 2022, the clinical genetics programs of the AMC and VUMC merged into one joint program. In addition to achieving this remarkable milestone, the department contributed to the following programs:
- (Clinical) Genetics classes in the Bachelor and Master of Medicine
- Health & Life
- Oncology Masters Program
- Personalized Medicine Masters Program
- Accredited Clinical Geneticists Educational Program
- Educational program in Clinical Genetics for healthcare providers in Internal Medicine
- The Tutor program
- Refresher courses for fellow Clinical Geneticists
- Accredited educators Dr. Mariet Elting and Eline Nannenberg, M.D. (also appointed as a principal educator of social safety), and Senior Teaching Qualification for Dr. Petra Zwijnenburg
PhD Graduations</span.
In 2022, 17 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.
Udita Bagch Towards experimental therapies for retinal degenerative diseases.
Supervisors: Prof. A.A.B. Bergen and Dr. M.P. Felder-Schmittbuhl. Section Ophthalmogenetics.
Hung-Jen Chen Balancing macrophage activation in health and disease. (Distinction cum laude).
Supervisors: Prof. M.P.J. de Winther and Prof. W.J. de Jonge, co-supervisors: Prof. P. Henneman and Prof. A.E. Neele. Section Genome Analysis.
Mohammed Ghiboub Targeting the immune epigenome in Crohn’s disease.
Supervisors: Prof. W.J. de Jonge and Prof. M.P.J. de Winther, co-supervisors: Dr. A.A. te Velde and Dr. P. Henneman. Section Genome Analysis.
Céline Koster Towards experimental therapies for retinal degenerative diseases.
Supervisor: Prof. A.A.B. Bergen, co-supervisor: Dr. K. Bharti. Section Ophthalmogenetics.
Izabela M. Krzyzewska DNA methylation in complex disease.
Supervisor: Prof. M.M.A.M. Mannens, co-supervisors: Dr. P. Henneman and Dr. M. Alders. Section Genome Analysis.
Eva S. van Walre The code we share: Leveraging genomic diversity to understand disease.
Supervisors: Prof. E.J. Meijers-Heijboer and Prof. D. Posthuma, co-supervisors: Dr. I.E. Jansen and Dr. I.B. Mathijssen. Section Clinical Genetics.
Andrew F. Li Yim Towards the identification of Crohn’s disease-associated epigenetic biomarkers in leukocytes.
Supervisors: Prof. M.M.A.M. Mannens and Prof. W.J. de Jonge, co-supervisors: Dr. P. Henneman and Dr. R.K. Prinjha. Section Genome Analysis.
Irma van de Beek On Birt-Hogg-Dubé syndrome: Cohorts, rare cases and novel genes.
Supervisors: Prof. E.J. Meijers-Heijboer and Prof. R.J.A. van Moorselaar, co-supervisor: Dr. A.C. Houweling and Dr. R.M.F. Wolthuis. Sections Clinical Genetics and Oncogenetics.
Annemiek van Berkel The price of prominence: STXBP1/MUNC18-1 in brain (dys)function.
Supervisor: Prof. M. Verhage, co-supervisor: Dr. R.F.G. Toonen. Section Functional Genomics.
Ivy van Dijke The dynamics of reproductive genetic technologies: Now and in the future. Perspectives of stakeholders.
Supervisors: Prof. L. Henneman and Prof. M.C. Cornel, co-supervisors: Prof. M. Goddijn and Dr. P. Lakeman. Section Community Genetics.
Iris E. Glykofridis On Folliculin: Molecular pathways and roles in Birt-Hogg-Dubé syndrome.
Supervisors: Prof. E.J. Meijers-Heijboer and Prof. C.R. Jimenez, co-supervisor: Dr. R.M.F. Wolthuis and Dr. A.C. Houweling. Sections Oncogenetics and Clinical Genetics.
Jovana Kovacevic Multilevel phenotyping of mouse models for neurodevelopmental disorders.
Supervisor: Prof. M. Verhage, co-supervisor: Dr. R.O. Stiedl. Section Functional Genomics.
Hanna Lammertse From synapse to symptom: Modelling the pathobiology of STXBP1 variants.
Supervisor: Prof. M. Verhage, co-supervisors: Dr. R.F.G. Toonen and Dr. M. Meijer. Section Functional Genomics.
Jasper Linthorst Computational analyses to characterise hidden information in short and long read sequencing data of human genomes.
Supervisors: Prof. E.A. Sistermans and Prof. Ir. M.J.T. Reinders, co-supervisor: Dr. H. Holstege. Sections Genome Analysis and Genomics of neurodegenerative diseases and aging.
Karuna van der Meij Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program.
Supervisors: Prof. L. Henneman and Prof. M.C. Cornel, co-supervisors: Dr. E.A. Sistermans and Dr. M.M. Weiss. Sections Genome Analysis and Community Genetics.
Daniel Puntman Following neuropeptide secretion.
Supervisor: Prof. M. Verhage, co-supervisor: Dr. R.F.G. Toonen. Section Functional Genomics.
Catia A.P. Silva Mitochondrial motility during synapse development.
Supervisor: Prof. Matthijs Verhage, co-supervisor: Dr. Christiaan Levelt. Section Functional Genomics.
Project Funding and Grants
Scientists at the Department of Human Genetics Amsterdam UMC continued to be successful in attracting competitive funding to initiate or continue vital projects to shape the future of DNA diagnostics and genetic medicine. Below, we highlight some of the prestigious grants that were obtained.
Prof. Martina Cornel, Dr. Tessel Rigter, and partners in SIMPATHIC (Peter-Bram ‘t Hoen, Radboud UMC).Accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular disorders by exploiting SIMilarities in clinical and molecular PATHology. HORIZON2020. € 351,660 out of € 8,9M. Section Community Genetics.
Dr. Josephine Dorsman, Dr. Patrick May (University of Luxembourg). Human genes critically involved in the protection against metabolically induced oxidative stress. ‘Dutch Cancer Society (KWF) unique high-risk project. Section Oncogenetics.
Dr. Carla van El, partner in PROPHET - A Personalized Prevention Roadmap for the Future Healthcare. EU Horizon HLTH-2021-STAYHLTH-01-04 a roadmap for personalised prevention. € 186,249 out of € 2,8M. Section Community Genetics.
Dr. Eszter Emri, Prof. Arthur A.B. Bergen. 3D printing of biosynthetic stem cell-derived retinal organoid tissue for modeling and therapeutic targeting of age-related macular degeneration and related disorders. Uitzicht Foundation. € 150,000. Section Ophthalmogenetics.
Prof. Lidewij Henneman, Prof. Martina Cornel, and partners in DNA screening (Dr. Mirjam Plantinga UMC Groningen). Investigation into the moral acceptability, conditions, and the role of government. ZonMw € 35,356 out of € 100,000. Section Community Genetics.
Dr. Henne Holstege, partner in consortium (Dr. Frank Wolters, Prof. Arfan Ikram, Erasmus MC).Dementia Strategy: Risk Reduction Consortium – Lifestyle 2. ZonMw. Section Genomics of neurodegenerative diseases and aging.
Dr. Philip Jansen.Identifying targetable mechanisms of insomnia in brain aging and dementia. ZonMW. Start date March 2022, € 280,000. Section Clinical Genetics.
Dr. Dimitra Micha. Development of novel therapy for Osteogenesis Imperfecta. Horstingstuit Foundation € 400,000. Section Center for Connective Tissue Disease.
Prof. Guus Smit and Prof. Matthijs Verhage. Annotation of the synaptic interactome and synaptic pathways relevant for ASD. The Simons Foundation Section Functional Genomics.
Prof. Matthijs Verhage, and the PreSSAD consortium of 6 European partners. Pre-diagnosis disturbances in neurodevelopmental disorders. ZonMW - JPND/Memorabel. Section Functional Genomics.
Dr. Rob Wolthuis, Dr. Job de Lange. CohesiNet. Marie Curie European PhD Network Grant. Two PhD Students for our research group. Section Oncogenetics.
Dr. Rob Wolthuis. Research Grant for a PhD Student (part time). Birt Hogg Dubé Foundation. Section Oncogenetics.
Wenchao Zhong. Amsterdam UMC Tissue Function & Regeneration Talent Grant. Section Center for Connective Tissue Disease.
Scientific Publications
We highlight a select number of scientific reports published in 2022 to illustrate the broad scope and impact of our collective efforts to pursue new knowledge for the benefit of human well-being.
Bakker, R., Wagstaff, E.L., Kruijt, C.C., et al. (2022) The retinal pigmentation pathway in human albinism: Not so black and white. Prog Retin Eye Res 91, 101091.
https://doi.org/10.1016/j.preteyeres.2022.101091 Section Ophthalmogenetics.
Becking, E.C., Linthorst, J., Patton, S., et al. (2022) Variability in fetal fraction estimation: Comparing fetal fractions reported by noninvasive prenatal testing providers globally. Clinical Chemistry 69, 160-167. https://doi.org/10.1093/clinchem/hvac207. Section Genome Analysis.
Van de Beek, I,. Glykofridis, I.E., Oosterwijk, J.C., et al. (2022) PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis. Human Molecular Genetics 32, 1223–1235. https://doi.org/10.1093/hmg/ddac28. Sections Clinical Genetics and Oncogenetics.
Carvalhal, S., Bader, I., Rooimans, M.A., et al. (2022) Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. Science Advances 8, eabk0114. https://doi.org/10.1126/sciadv.abk0114. Sections Oncogenetics and Clinical Genetics.
Eekhoff, E.M.W., de Ruiter, R.D., Smilde, B.J., et al. (2022) Gene therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and obstacles. Hum Gene Ther. 33, 782-788. https://doi.org/10.1089/hum.2022.023 Section Center for Connective Tissue Disease.
Heesterbeek, C.J., Aukema, S.M., Galjaard, R.H., et al. (2022) Noninvasive prenatal test results indicative of maternal malignancies: a nationwide genetic and clinical follow-up study. J Clin Oncol. 40, 2426-2435. https://doi.org/10.1200/jco.21.02260. Section Community Genetics.
Holstege, H., Hulsman, M., Charbonnier, C. et al. (2022) Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease. Nat Genet. 54, 1786–1794. https://doi.org/10.1038/s41588-022-01208-7. Section Genomics of Neurodegenerative Diseases and Aging.
Koster, C., Van den Hurk, K.T., Ten Brink, J.B., et al. (2022) Sodium-Iodate Injection Can Replicate Retinal Degenerative Disease Stages in Pigmented Mice and Rats: Non-Invasive Follow-Up Using OCT and ERG. Int J Mol Sci. 23, 2918. https://doi.org/10.3390/ijms23062918. Section Ophthalmogenetics.
Van der Laan, L., Rooney, K., Alders, M., et al. (2022) Episignature mapping of TRIP12 provides functional Insight into Clark-Baraitser Syndrome. Int J Mol Sci. 23, 13664. https://doi.org/10.3390/ijms232213664. Section Genome Analysis.
Van Prooyen Schuurman, L., Sistermans, E.A., Van Opstal, D., et al (2022) Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study. Am J Hum Genet. 109, 1140-1152. https://doi.org/10.1016/j.ajhg.2022.04.018. Section Community Genetics.
Roohollahi, K., De Jong, Y., Pai, G., BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia. Scientific Reports 12, 45. https://doi.org/10.1038/s41598-021-04042-9. Section Oncogenetics.
San Juan, I.G., Nash, L.A., Smith, K.S., et al. (2022) Loss of mouse Stmn2 function causes motor neuropathy Neuron 110, P1671-1688.E6. https://doi.org/10.1016/j.neuron.2022.02.011. Section Functional Genomics.
Storoni, S., Treurniet, S., Maugeri, A., et al (2022) Prevalence and hospital admissions in patients with Osteogenesis Imperfecta in the Netherlands: A nationwide registry study. Front Endocrinol. 13. https://doi.org/10.3389/fendo.2022.869604. Section Center for Connective Tissue Disease.
Trubetskoy, V., Pardiñas, A.F., Qi, T. et al. (2022) Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature 604, 502–508. https://doi.org/10.1038/s41586-022-04434-5. Section Functional Genomics.
Zhang, M., Ganz, A.B., Rohde, S., et al. (2022) Resilience and resistance to the accumulation of amyloid plaques and neurofibrillary tangles in centenarians: An age-continuous perspective. Alzheimer's Dement. 2022; 1- 11. https://doi.org/10.1002/alz.12899 Section Genomics of Neurodegenerative Diseases and Aging.
Awards and Prizes
Lauria Claeys. Young investigator award at the 14th International conference on Osteogenesis Imperfecta, the European Calcified Tissue Society, #ECTS2022. Section Center for Connective Tissue Disease.
Prof. Martina Cornel. The Ethical, Legal and Psychosocial Aspects of Genetics (ELPAG) Award from the European Society of Human Genetics. Section Community Genetics.
Prof. Lidewij Henneman received the Leo ten Kate Oeuvre prize, in recognition of the impact of her work on genetic screening around pregnancy and birth. Section Community Genetics.
Dr. Karuna van der Meij received the Leo ten Kate Oeuvre prize, in appreciation of her successful thesis defence and potential to become a leader in the field. Karuna studied the implementation of non-invasive prenatal testing (NIPT) in a national prenatal screening program (TRIDENT-2 study), which will become freely available to all pregnant women from April 1, 2023 onwards. Sections Community Genetics and Genome Analysis.
Dr. Karuna van der Meij. Best oral presentation by a young investigator, 2nd place. Symposium jointly organized by the Belgian Society of Human Genetics (BeSHG) and the Dutch Society for Human Genetics (NVHG). Sections Community Genetics and Genome Analysis.
Prof. Bekim Sadikovic was awarded the Spinoza Chair in Medicine by the UvA Alumni Association of the Faculty of Medicine, University of Amsterdam in June 2022. Section Genome Analysis.
In the media
In the media
In the media
Dr. Henne Holstege. TV talkshow ‘Humberto’. On February 27, 2022, Dr. Henne Holstege was a live guest in Humberto’s talk show together with two centenarians. The interview with Henne inspired Humberto to create a book with interviews of 100 centenarians. Section Genomics of Neurodegenerative Diseases and Aging.
Successful fundraiser for research into encephalopathy
- On Saturday, June 11th 2022, members of the Functional Genomics team successfully biked the Dutch-Belgian million-dollar bike ride, a fundraising event to raise money for research towards STXBP1-Encephalopathy. Section Functional Genomics.
A remarkable milestone!
- In 2022, the 100-Plus study included the 400th participant. Section Genomics of Neurodegenerative Diseases and Aging.
Human Genetics Amsterdam UMC Science Days
In 2022, two hybrid departmentwide meetings were organized. The meetings provide an excellent opportunity for staff members to hear about the latest (research) developments at our department, meet each other in person, and exchange ideas for collaborations and future research initiatives.
- March 31st: Epigenetics in research and diagnostics
- November 10th: Progress in Liquid Biopsy Genome Analyses
Website
For more information and news about the Department of Human Genetics Amsterdam UMC visit our new website: https://humanegenetica.com/
Colophon
Editorial board
Irene Kroon, Henri van de Vrugt, José Roest, and Rogier Postma.
Project management, writing, editing, & translation
Additional writing contributions
Dr. Mariëlle Alders, Dr. Silvana van Koningsbruggen, and Dr. Abeltje Polstra (New Resources), Ruud van den Bogaard, MSc., (Goodbye Marcel), Dr. Mariet Elting, Dr. Eline Nannenberg, and Dr. Petra Zwijnenburg (Building a Bright Future), Prof. Lidewij Henneman & Dr. Tessel Rigter (‘DO…what we know’), Dr. Dimitra Micha (Power of Reflection), Dr. Rob Wolthuis (Celebrating Progress), Prof. Marcel Mannens (A Diagnostic Bridge).
Design & Layout
Susette Solórzano & Dorian Carcuz
Photos
Adobe Stock, Amsterdam UMC Image Library, Dr. Iris Glykofridis, Evert Doorn Fotografie, DigiDaan, Barbra Verbij (photo of Prof. Erik Sistermans).
Date of Publication
May 2023
Contact:
Department of Human Genetics
Amsterdam UMC
Location AMC
Meibergdreef 9
1105 AZ Amsterdam
The Netherlands
Email: stafsecrhga@amsterdamumc.nl
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Dutch