Personal profile
Research interests
Dr. Eva van Walree is a clinical geneticist in training and assistant professor at the Emma Center for Personalized Medicine. For over a decade, she has been committed to improving diagnostics and treatment options for patients with rare diseases. Her academic path combines a strong clinical foundation with international research experience. After finishing her medical degree at the University of Utrecht, she gained experience as a clinical doctor in pediatrics for over a year. Following her interest in genetics, she enrolled in a Master’s program (MPhil) Genomic Medicine at the University of Cambridge, where she investigated monogenic causes of congenital central hypothyroidism. This was followed by a PhD at the Complex Trait Genetics (CTG) lab (Vrije Universiteit), where she worked on diverse projects ranging from monogenic heart disease to the complex genetics of metabolic syndrome and parental relatedness as well as drug repurposing based on GWAS data. She then started her training in clinical genetics at Amsterdam UMC, with a focus on congenital and developmental genetics. After joining the Emma Center for Personalized Medicine as an assistant professor in 2024, her current focus now lies at the intersection of rare disease genetics and therapeutics. To fulfill this goal, she is supervising (PhD-)students as well as being actively engaged in translational research herself. She is a member of the Dutch Clinical Genetics Society’s (VKGN/VKGL) “Therapy Working Group” and co-developer of a clinical rotation on therapy development for rare genetic diseases. Dr. van Walree is recognized for her strong communication skills, independence, and collaborative mindset. She has experience in bioinformatics, statistical genetics, treatment of patients with rare genetic diseases (N-of-1 trials) and counseling of patients and families. Her career goal is to combine clinical work with research into therapies for genetic disorders.
Specialisation
Human Genetics
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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SDG 4 Quality Education
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Collaborations and top research areas from the last five years
Research output
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Influence of autozygosity on common disease risk across the phenotypic spectrum
van Walree, E. S., Malawsky, D. S., Jacobs, B. M., Hiang Heng, T., Huang, Q. Q., Sabir, A. H., Rahman, S., Malik Sharif, S., Khan, A., Umićević Mirkov, M., Kuwahara, H., Gao, X., Alkuraya, F. S., Posthuma, D., Newman, W. G., Griffiths, C. J., Mathur, R., van Heel, D. A., Finer, S. & O'Connell, J. & 1 others, , 12 Oct 2023, In: Cell.Research output: Contribution to journal › Article › Academic › peer-review
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Disentangling Genetic Risks for Metabolic Syndrome
van Walree, E. S., Jansen, I. E., Bell, N. Y., Savage, J. E., de Leeuw, C., Nieuwdorp, M., van der Sluis, S. & Posthuma, D., 1 Nov 2022, In: Diabetes. 71, 11, p. 2447-2457 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile49 Downloads (Pure) -
Erratum: Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))
van Walree, E. S., Dombrowsky, G., Jansen, I. E., Umićević Mirkov, M., Zwart, R., Ilgun, A., Guo, D., Clur, S.-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu'Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E. & Christoffels, V. M. & 6 others, , 1 Apr 2022, In: Genetics in medicine. 24, 4, p. 965 1 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open AccessFile4 Downloads (Pure) -
The code we share: Leveraging genomic diversity to understand disease
van Walree, E. S., 2022, 184 p.Research output: PhD Thesis › Phd-Thesis - Research and graduation internal
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Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes
Wyrwoll, M. J., van Walree, E. S., Hamer, G., Rotte, N., Motazacker, M. M., Meijers-Heijboer, H., Alders, M., Meißner, A., Kaminsky, E., Wöste, M., Krallmann, C., Kliesch, S., Hunt, T. J., Clark, A. T., Silber, S., Stallmeyer, B., Friedrich, C., van Pelt, A. M. M., Mathijssen, I. B. & Tüttelmann, F. & 1 others, , 27 Dec 2021, In: Human reproduction (Oxford, England). 37, 1, p. 178-189 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile45 Downloads (Pure)