Dr. Masoud Zamani Esteki

Masoud Zamani Esteki is associate professor and principal investigator at Maastricht University (UM) and Maastricht University Medical Centre (MUMC+). Masoud’s research lies at the intersection of classical genetics, molecular and developmental genetics, clinical genetics, bioinformatics, and artificial intelligence. During the course of his (post)doctoral research, he has invented methods to study genome instability in early human development with application to the clinic, such as preimplantation genetic testing (PGT) and non-invasive prenatal testing (NIPT). Specifically, he has been developing, applying and translating integrative wet- and dry-lab approaches that uncover the genome’s allelic architecture in samples derived from many cells down to a single cell. Some of these technologies are now being used as routine diagnostic genetic tests. See Masoud's hope and vision for the field here.

Masoud leads the Cellular Genomic Medicine (CGM) group. CGM has several lines of active research centered around progressive innovation in Reproductive Medicine, e.g. development and application of novel methods for characterizing different molecular layers, their interplay and connectivity, and their impact on cellular identity and function. In particular at early stages of life. CGM constantly explores new avenues towards translating their research into the clinic.

Timeline
2021- Associate professor, Maastricht UMC+ & Maastricht University
2021 Assistant professor (tenured), Maastricht UMC+ & Maastricht University
2018 Assistant professor (tenure track), Maastricht UMC+ & Maastricht University
2017 Postdoctoral scientist, Centre for Human Genetics, KU Leuven, Belgium
2015 PhD in Biomedical Sciences – Molecular and Developmental Genetics, KU Leuven, Belgium
2011 Advanced Master in Artificial Intelligence, KU Leuven, Belgium
2009 Master of Science in Bioinformatics, KU Leuven, Belgium
2007 Bachelor of Science in Molecular Cell Biology – Genetics, Chamran University of Ahvaz, Iran

2022     The Royal Academy of Arts and Sciences (KNAW) young investigator award, NL 
2019     Travel grant winner and Finalist for the Joe Leigh Simpson Award for the Best Early Career Investigator, International Society of Prenatal Diagnosis and Therapy (ISPD)
2015     Winner of the International Royan Award for outstanding research in Reproductive Genetics, Tehran
2015     Trainee Paper Spotlight for outstanding publication and research done by trainee members of ASHG
2014     Awarded for the best oral presentation in basic research at PGDIS 2014, Kent, UK
2014     Winner of Charles J. Epstein Trainee Award for Excellence in Human Genetics Research, San Diego, USA
2014     Candidate for the Young Investigator Awards of the ESHG 2014 Conference, Milan, Italy
2012     Nominated for the Royan International award, Tehran, Iran
2012     Travel grant for the Royan International Twin Congress, Tehran, Iran
2011    Winner of the European Society of Human Genetics (ESHG) fellowship for 4th Course in Integration of cytogenetics, microarray and massive sequencing in biomedical and clinical research, Bologna, Italy
 

• Zamani Esteki, M. The effect of embryonic genome imbalances on pregnancy. (2023). Nature Medicine. doi:10.1038/s41591-023-02687-9. PMID: 38012316.
• ​Essers, R., Lebedev, I., Kurg, A., Fonova, EA., Stevens, S.J.C., Koeck, RM., von Rango, U., Brandts, L., Panagiotis Deligiannis, S., Nikitina, TV., Sazhenova, EA., Tolmacheva, EN., Kashevarova, AA., Fedotov, DA., Demeneva, VV., Zhigalina, DI., Drozdov, GV., Al-Nasiry, S., Macville, M.V. E., van den Wijngaard, A., Dreesen, J., Paulussen, A., Hoischen, A., Brunner, HG., Salumets S., Zamani Esteki, M. The nature and prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss. (2023). Nature Medicine. doi: 10.1038/s41591-023-02645-5. PMID: 37996709.
• ​Pathare, ADS., Loid, M., Saare M., Brusell, Gidlöf S., Zamani Esteki M., Acharya, G., Peters, M., Salumets, A. Endometrial receptivity in women of advanced age – an underrated factor in infertility. (2023). Human Reproduction Update. doi: 10.1093/humupd/dmad019. PMID: 37468438.
• Vernimmen, V., Paulussen, ADC., Dreesen, JCFM., van Golde, RJ., Zamani Esteki, M., Coonen, E., van Buul-van Zwet, ML., Homminga, I., Derijck, AAHA., Brandts, L., Stumpel, CTRM., de Die-Smulders, CEM. Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience. (2023). European Journal of Human Genetics. doi: 10.1038/s41431-023-01404-x. PMID: 37337089.
• *Stevens Brentjens, LBPM., *Obukhova, D., den Hartog, JE., Delvoux, B., Koskivuori, J., Auriola, S., Häkkinen, MR., Bui BN., van Hoogenhuijze, NE., Mackens, S., Mol, F., de Bruin, JP., Besselink, D., Teklenburg, G., Kukushkina, V., Salumets, A., Broekmans, FJM., van Golde, RJT., #Zamani Esteki, M., #Romano A. An integrative analysis of endometrial steroid metabolism and transcriptome in relation to endometrial receptivity in in vitro fertilization patients. (2023). Fertility and Sterility Science. doi: 10.1016/j.xfss.2023.04.003.  PMID: 37142054 
  *Co-first author #Co-last author
• Van Dijk, W., Derks, K., Drüsedau, M., Meekels, J., Koeck, R., Essers, R., Dreesen, J., Coonen, E., de Die-Smulders, CEM., van Wijngaard, A., Paulussen, ADC., Zamani Esteki, M.  Embryo Tracking System for High-throughput Sequencing-based Preimplantation Genetic Testing. (2022). Human Reproduction. doi: 10.1093/humrep/deac208. PMID: 36149256.
• Koeck, R., Busato, F., Tost, J., Consten, D., Zandstra, H., Remy, S., Langie, S. , Gielen, M., van Golde, R., Dumoulin, JCM., Brunner, HG., #Zamani Esteki, M., #van Montfoort, APA. At age 9 the methylome of assisted reproductive technology children that underwent embryo culture in different media is not significantly different on a genome-wide scale. (2022). Human Reproduction. doi: 10.1093/humrep/deac213. PMID: 36206092  
  #Co-senior/corresponding author
• Koeck, R., Busato, F., Tost, J., Consten, D., van Echten-Arends, J., Mastenbroek, S., Wurth, Y., Gielen, M., van Golde, R., Dumoulin, JCM., Brunner, HG., #van Montfoort, APA., #Zamani Esteki, M. Methylome-wide analysis of IVF neonates that underwent embryo culture in different media revealed no significant differences. (2022). npj Genomic Medicine. doi: 10.1038/s41525-022-00310-3. PMID: 35768464.
  #Co-senior/corresponding author
• Heesterbeek, CJ., Aukema, SM, Galjaard, RH., Boon, EMJ., Srebniak, MI., Bouman, K., Faas, BHW., Govaerts, LCP., Hoffer, MJV.,  den Hollander, NS., Lichtenbelt, KD., van Maarle, MC., van Prooyen Schuurman, L., van Rij, MC.,  Schuring-Blom, GH., Stevens, SJC., Tan-Sindhunata, G., Zamani Esteki, M., de Die-Smulders, CEM., Tjan-Heijnen, VCG., Henneman, L., Sistermans, EA., Macville, MVE., Dutch NIPT Consortium. (2022). Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study. Journal of Clinical Oncology. doi: 10.1200/JCO.21.02260. PMID: 35394817
• Masset, H., Ding, J., Dimitriadou, E., Debrock, S., Tšuiko, O., Smits, K., Peeraer, K., Voet, T., Zamani Esteki, M., Vermeesch, JR. (2022). Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing. Nucleic Acids Research, doi: 10.1093/nar/gkac134. PMID: 35212381
• *Schobers, G., *Koeck, R., Pellaers, D., Stevens, S., Macville, M., Paulussen, ADC., Coonen, E., van Wijngaard, A., de Die-Smulders, CEM., De Wert, G., Brunner, HG., and Zamani Esteki, M. (2021). Liquid biopsy: State of Reproductive Medicine and Beyond. Human Reproduction,  doi: 10.1093/humrep/deab206. PMID: 34562078 *Co-first authors
• Sallevelt SCEH, Stegmann APA, de Koning, B., Velter  C., Steyls  A., van Esch  M., Lakeman P., Yntema H., Zamani Esteki, M., de Die-Smulders CEM., Gilissen  C., van den Wijngaard A., Brunner HG., Paulussen ADC.  Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice. (2021). Genetics in Medicine, 23(6):1125-1136. doi: 10.1038/s41436-021-01116-x. PMID: 33742171
• Che, H., Villela, D., Dimitriadou, E., Melotte, C., Brison, N., Neofytou, M., Van Den Bogaert, K., Tsuiko, O., Devriendt, K., Legius, E., Zamani Esteki, M., Voet, T., Vermeesch, JR. Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA. (2020). Genetics in Medicine, 22(5):962-973. doi: 10.1038/s41436-019-0748-y. PMID: 32024963
• Ding, J., Dimitriadou, E., Tsuiko, O., Destouni, A., Melotte, C., Van Den Bogaert, K., Debrock, S., Jatsenko, T., Zamani Esteki, M., Voet, T., Peeraer, K., Denayer, E., Vermeesch, J.R. (2020). Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testing. Human Reproduction, 35 (3), 718-726. doi: 10.1093/humrep/dez285. PMID: 32198505
• Zamani Esteki, M.#,*, Viltrop T.*, Tšuiko, O.*, Tiirats, A. Koel, M., Nõukas M., Žilina, O., Heearu, K.,Marjonen, H., Kahila, H., Meekels, J., Söderström-Anttila, V., Suikkari, A., Mägi, R., Kõks, S.,Kaminen-Ahola, N., Kurg, A., Voet, T.#, Vermeesch JR# and Salumets, A#. In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages. (2019). Nature Medicine, 25(11):1699-1705. doi: 10.1038/s41591-019-0620-2. PMID: 31686035
  *Joint first author, #Co-senior/corresponding author

Haplotyping and copy number typing by polymorphic variant allele frequencies. (2015) ZL913096 - PCT/EP2014/068315 - WO/2015/028576
Methods for haplotyping single cells. (2011) ZL910050 -PCT/EP2011/060211 - WO/2011/157846

For Full list of publications see:
ORCiD
ResearchGate

In this first video Masoud Zamani Esteki explains his work on genetics in early human development to ultimately help people have healthy children.

Masoud and his team showed that chromosome instability is not preserved at birth and IVF has no detrimental effect on the genome of IVF children.

We are proud to share that our researcher Masoud Zamani Esteki is one of the 12 researchers receiving the KNAW Early Career Award.