Emmanouil Dermitzakis

Last updated
Emmanouil T. Dermitzakis
Dermitzakis-photo-sept2015-v3.jpg
Born
Emmanouil Theophilos Dermitzakis

(1972-04-03) April 3, 1972 (age 52)
Nationality Greek
Education University of Crete
Pennsylvania State University
Children3
Scientific career
Fields Genomics
Population genetics
Institutions University of Geneva
Thesis Evolution of components of gene regulation in Drosophila and mammals  (2001)
Doctoral advisor Andrew G. Clark

Emmanouil Theophilos Dermitzakis (born April 3, 1972) is a Greek human geneticist and despotic professor in the Department of Genetic Medicine and Development at the University of Geneva, where he is also Director of the Health 2030 Genome Center. He is an ISI Highly Cited Researcher and an elected member of the European Molecular Biology Organization. [1] [2] He is a member of the Swiss Institute of Bioinformatics, where his research group is focused on the genetics and genomics of complex traits in humans. [3] He has joined GlaxoSmithKline as Vice President, Computational Biology in R&D. [4]

Contents

Early life and education

Dermitzakis graduated from High School in Pagrati, Athens. His dream of becoming a geneticist was spurred by two pages on genetic engineering in a Biology book in the school curriculum. [5] His father was a physician and former classmate of professor Fotis Kafatos, who inspired him to later enter the field of research. [6]

Dermitzakis completed his graduate degree in Biology at the University of Crete in 1995 and then earned a Master of Science at the same University in 1997. [7] During an interview he confessed that he did not achieve a high score in his first degree, nevertheless his drive for research helped him pursue doctoral studies in the USA. [6] He completed his doctoral thesis in the evolution of components of gene regulation in Drosophila and mammals at Penn State University in 2001. [7] He then completed postdoctoral studies at the Medical School of the University of Geneva in 2004 with his research on comparative genome analysis and the functional characterization of conserved non-genic elements. [8]

Career

After completing his studies Dermitzakis moved to the United Kingdom, where he worked as a group leader and member of the academic council at the Wellcome Sanger Institute from 2004 to 2009. [9] He continued his research career in Switzerland, as Professor of Genetics in the Department of Genetic Medicine and Development at the University of Geneva and in research centres including Frontiers in Genetics and the Swiss Institute of Bioinformatics in Geneva. [10] He has served as Director of the Health 2030 Genome Center and is a member of the Biomedical Research Foundation of the Academy of Athens in Greece. [6] In November 2019 he was appointed chairman of the Greek National Council for Research, Technology and Innovation, however a few months later he resigned, having said that his role on the council was merely decorative. [11] In October 2020 he was appointed Director of the Institute of Genetics and Genomics of Geneva (known also as iGE3). [12]

Distinctions

Dermitzakis has published over 160 papers in peer-reviewed scientific journals such as Nature and Science with over 89,000 citations. [13] Before the age of 40 he was already on the Thomson Reuters Highly Cited Researchers list in the field of Molecular Biology and Genetics. [14] His research has been funded by the European Research Council (ERC), the European Union, the Swiss National Science Foundation, the American National Institutes of Health (NIH), the Wellcome Trust, the Juvenile Diabetes Research Foundation (JDRF) and the Louis-Jeantet Foundation. [15] Dermitzakis has earned numerous awards and continues to appear on the ISI Highly Cited Researchers List every year from 2014 onward. [16]

Scientific contributions

Dermitzakis has been one of the first scientists to reveal the importance of non-coding DNA in evolution and disease susceptibility. His papers on the evolution of regulatory elements showed the dynamic nature of regulatory sequences. [17] His group has pioneered the analysis of non-coding regulatory variants in the human genome and their effect on gene expression regulation, [18] [19] [20] [21] [22] chromatin patterns and regulatory interactions [23] [24] and 3D genome interactions in cis and trans regulatory variants [25] and how they are impacting cellular function as well as disease susceptibility [26] [27] and cancer. [28]

He has participated in international genetics projects such as ENCODE, [29] HapMap, [30] GTEx [31] and more recently in the International Common Disease Alliance (ICDA). [32]

Personal life

Manolis Dermitzakis is married to attorney Ria Kechagia and the couple have three children. [33]

Related Research Articles

<span class="mw-page-title-main">Human genome</span> Complete set of nucleic acid sequences for humans

The human genome is a complete set of nucleic acid sequences for humans, encoded as the DNA within each of the 24 distinct chromosomes in the cell nucleus. A small DNA molecule is found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly repetitive sequences. Introns make up a large percentage of non-coding DNA. Some of this non-coding DNA is non-functional junk DNA, such as pseudogenes, but there is no firm consensus on the total amount of junk DNA.

Non-coding DNA (ncDNA) sequences are components of an organism's DNA that do not encode protein sequences. Some non-coding DNA is transcribed into functional non-coding RNA molecules. Other functional regions of the non-coding DNA fraction include regulatory sequences that control gene expression; scaffold attachment regions; origins of DNA replication; centromeres; and telomeres. Some non-coding regions appear to be mostly nonfunctional, such as introns, pseudogenes, intergenic DNA, and fragments of transposons and viruses. Regions that are completely nonfunctional are called junk DNA.

Gene duplication is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene. Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. Common sources of gene duplications include ectopic recombination, retrotransposition event, aneuploidy, polyploidy, and replication slippage.

The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns of human genetic variation. HapMap is used to find genetic variants affecting health, disease and responses to drugs and environmental factors. The information produced by the project is made freely available for research.

<span class="mw-page-title-main">Functional genomics</span> Field of molecular biology

Functional genomics is a field of molecular biology that attempts to describe gene functions and interactions. Functional genomics make use of the vast data generated by genomic and transcriptomic projects. Functional genomics focuses on the dynamic aspects such as gene transcription, translation, regulation of gene expression and protein–protein interactions, as opposed to the static aspects of the genomic information such as DNA sequence or structures. A key characteristic of functional genomics studies is their genome-wide approach to these questions, generally involving high-throughput methods rather than a more traditional "candidate-gene" approach.

<span class="mw-page-title-main">Synteny</span> Co-localization of genetic loci on a chromosome, or the conservation of gene order

In genetics, the term synteny refers to two related concepts:

<span class="mw-page-title-main">Human genetic variation</span> Genetic diversity in human populations

Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism.

An expression quantitative trait locus (eQTL) is a type of quantitative trait locus (QTL), a genomic locus that is associated with phenotypic variation for a specific, quantifiable trait. While the term QTL can refer to a wide range of phenotypic traits, the more specific eQTL refers to traits measured by gene expression, such as mRNA levels. Although named "expression QTLs", not all measures of gene expression can be used for eQTLs. For example, traits quantified by protein levels are instead referred to as protein QTLs (pQTLs).

Ira Herskowitz was an American phage and yeast geneticist who studied genetic regulatory circuits and mechanisms. He was particularly noted for his work on mating type switching and cellular differentiation, largely using Saccharomyces cerevisiae as a model organism.

<span class="mw-page-title-main">Stephen W. Scherer</span> Canadian scientist (born 1964)

Stephen Wayne "Steve" Scherer is a Canadian scientist who currently serves as the Chief of Research at The Hospital for Sick Children (SickKids) and distinguished University Professor at the University of Toronto. He obtained his PhD at the University of Toronto under Professor Lap-chee Tsui. Together they founded Canada's first human genome centre, the Centre for Applied Genomics (TCAG). He is a Senior Fellow of Massey College at the University of Toronto. In 2014, he was named an esteemed Clarivate Citation laureate in Physiology or Medicine for the “Discovery of large-scale gene copy number variation and its association with specific diseases.”

Genoeconomics is an interdisciplinary field of protoscience that aims to combine molecular genetics and economics.

Ross C. Hardison is an American biochemist and molecular biologist, currently the T. Ming Chu Professor of Biochemistry and Molecular Biology at the Eberly College of Science, of the Pennsylvania State University.

<span class="mw-page-title-main">Manolis Kellis</span> Greek-born computational biologist

Manolis Kellis is a professor of Computer Science and Computational Biology at the Massachusetts Institute of Technology (MIT) and a member of the Broad Institute of MIT and Harvard. He is the head of the Computational Biology Group at MIT and is a Principal Investigator in the Computer Science and Artificial Intelligence Lab (CSAIL) at MIT.

John A. Stamatoyannopoulos a Greek-American physician-scientist in molecular biology and epigenomics. He is a professor of genome sciences and medicine at the University of Washington, where he heads the Stam Lab and led UW Medicine's participation in the ENCODE project. John is the son of Greek geneticist George Stamatoyannopoulos. Stamatoyannopoulos is the scientific director of the Altius Institute for Biomedical Sciences.

<span class="mw-page-title-main">Bart Deplancke</span> Belgian biologist

Bart Deplancke is a Belgian bio-engineer and researcher. He is a full professor at École Polytechnique Fédérale de Lausanne, where he leads the laboratory of systems biology and genetics.

Barbara Elizabeth Engelhardt is an American computer scientist and specialist in bioinformatics. Working as a Professor at Stanford University, her work has focused on latent variable models, exploratory data analysis for genomic data, and QTLs. In 2021, she was awarded the Overton Prize by the International Society for Computational Biology.

Robert E. Kingston is an American biochemist and geneticist who studies the functional and regulatory role nucleosomes play in gene expression, specifically during early development. After receiving his PhD (1981) and completing post-doctoral research, Kingston became an assistant professor at Massachusetts General Hospital (1985), where he started a research laboratory focused on understanding chromatin's structure with regards to transcriptional regulation. As a Harvard graduate himself, Kingston has served his alma mater through his leadership.

Katrien M. Devos is an American plant geneticist who is distinguished research professor at the University of Georgia. Her research considers the structure, function and evolution of the genomes of grasses. In particular, Devos considers halophytic turfgrasses, cereals and bioenergy crops. She was elected Fellow of the American Association for the Advancement of Science in 2016.

<span class="mw-page-title-main">Tara Matise</span> American geneticist

Tara Matise is an American geneticist at Rutgers University. Since 2018, she has served as chair of the Department of Genetics. Her research interests span computational genetics, data science, and human genetics. She is co-director of the Rutgers University Genetics Coordinating Center.

<span class="mw-page-title-main">Stein Aerts</span> Belgian bio-engineer and computational biologist

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References

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  2. ↑ "Professor Emmanouil (Manolis) Dermitzakis". UNIGE School of Medicine FunPopGen. Retrieved June 7, 2019.
  3. ↑ Flegel, Sylvie. "Dermitzakis Emmanouil (Manolis)". SIB Swiss Institute of Bioinformatics. Archived from the original on November 27, 2020. Retrieved June 7, 2019.
  4. ↑ "ASHG Honors Emmanouil Dermitzakis, PhD with the 2021 Curt Stern Award". American Society of Human Genetics. 12 July 2021. Retrieved December 31, 2021.
  5. ↑ Θεοδώρα, Τσώλη (2019-11-18). "Μανώλης Δερμιτζάκης : Ηρθε να "νοικοκυρέψει" την έρευνα στην Ελλάδα". Ειδήσεις - νέα - Το Βήμα Online (in Greek). Retrieved 2020-10-18.
  6. 1 2 3 "GoodNews.gr - Μανώλης Δερμιτζάκης: Αυτός είναι ο επιστήμονας που συντονίζει την εμβληματική δράση COVID-19-GR". goodnews.gr (in Greek). Retrieved 2020-10-18.
  7. 1 2 IEFIMERIDA.GR, NEWSROOM (2014-11-05). "Ενας Κρητικός στους σπουδαιότερους επιστήμονες του κόσμου -Εκείνοι που θα επηρεάσουν δραστικά τις ζωές μας | STORIES". iefimerida.gr (in Greek). Retrieved 2020-10-18.
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  9. ↑ "Μανώλης Δερμιτζάκης "What's that in your genes and are you happy to see it?"". The HUB Events (in Greek). Retrieved 2020-10-18.
  10. ↑ "Ο Μ. Δερμιτζάκης πρόεδρος στο Εθνικό Συμβούλιο Έρευνας, Τεχνολογίας και Καινοτομίας | naftemporiki.gr". www.naftemporiki.gr (in Greek). 2019-08-11. Retrieved 2020-10-18.
  11. ↑ Ιωάννα, Σουφλέρη (2020-08-26). "Δερμιτζάκης: Οι απόψεις μου για την έρευνα δεν ταυτίζονταν με της κυβέρνησης". Ειδήσεις - νέα - Το Βήμα Online (in Greek). Retrieved 2020-10-18.
  12. ↑ "New director for iGE3 - Emmanouil Dermitzakis". iGE3 (Institute of Genetics and Genomics of Geneva). 2020-10-01. Retrieved 2020-10-18.
  13. ↑ "Emmanouil Dermitzakis". scholar.google.ch. Retrieved 2020-10-18.
  14. ↑ "Ένας σημαντικός Έλληνας γενετιστής μιλά για το μοντέλο της Σουηδίας, τη νέα κανονικότητα και την έρευνα στη χώρα μας". LiFO (in Greek). 24 April 2020. Retrieved 2020-10-18.
  15. ↑ "Δερμιτζάκης Μανώλης". www.blod.gr. Retrieved 2020-10-18.
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  17. ↑ Dermitzakis, Emmanouil T.; Clark, Andrew G. (July 2002). "Evolution of transcription factor binding sites in Mammalian gene regulatory regions: conservation and turnover". Molecular Biology and Evolution. 19 (7): 1114–1121. doi: 10.1093/oxfordjournals.molbev.a004169 . ISSN   0737-4038. PMID   12082130.
  18. ↑ Stranger, Barbara E.; Forrest, Matthew S.; Clark, Andrew G.; Minichiello, Mark J.; Deutsch, Samuel; Lyle, Robert; Hunt, Sarah; Kahl, Brenda; Antonarakis, Stylianos E.; Tavaré, Simon; Deloukas, Panagiotis (December 2005). "Genome-wide associations of gene expression variation in humans". PLOS Genetics. 1 (6): e78. doi: 10.1371/journal.pgen.0010078 . ISSN   1553-7404. PMC   1315281 . PMID   16362079.
  19. ↑ Stranger, Barbara E.; Nica, Alexandra C.; Forrest, Matthew S.; Dimas, Antigone; Bird, Christine P.; Beazley, Claude; Ingle, Catherine E.; Dunning, Mark; Flicek, Paul; Koller, Daphne; Montgomery, Stephen (October 2007). "Population genomics of human gene expression". Nature Genetics. 39 (10): 1217–1224. doi:10.1038/ng2142. ISSN   1546-1718. PMC   2683249 . PMID   17873874.
  20. ↑ Stranger, Barbara E.; Forrest, Matthew S.; Dunning, Mark; Ingle, Catherine E.; Beazley, Claude; Thorne, Natalie; Redon, Richard; Bird, Christine P.; de Grassi, Anna; Lee, Charles; Tyler-Smith, Chris (2007-02-09). "Relative impact of nucleotide and copy number variation on gene expression phenotypes". Science. 315 (5813): 848–853. Bibcode:2007Sci...315..848S. doi:10.1126/science.1136678. ISSN   1095-9203. PMC   2665772 . PMID   17289997.
  21. ↑ Montgomery, Stephen B.; Sammeth, Micha; Gutierrez-Arcelus, Maria; Lach, Radoslaw P.; Ingle, Catherine; Nisbett, James; Guigo, Roderic; Dermitzakis, Emmanouil T. (2010-04-01). "Transcriptome genetics using second generation sequencing in a Caucasian population". Nature. 464 (7289): 773–777. Bibcode:2010Natur.464..773M. doi:10.1038/nature08903. ISSN   1476-4687. PMC   3836232 . PMID   20220756.
  22. ↑ Lappalainen, Tuuli; Sammeth, Michael; Friedländer, Marc R.; 't Hoen, Peter A. C.; Monlong, Jean; Rivas, Manuel A.; Gonzàlez-Porta, Mar; Kurbatova, Natalja; Griebel, Thasso; Ferreira, Pedro G.; Barann, Matthias (2013-09-26). "Transcriptome and genome sequencing uncovers functional variation in humans". Nature. 501 (7468): 506–511. Bibcode:2013Natur.501..506L. doi:10.1038/nature12531. ISSN   1476-4687. PMC   3918453 . PMID   24037378.
  23. ↑ Kilpinen, Helena; Waszak, Sebastian M.; Gschwind, Andreas R.; Raghav, Sunil K.; Witwicki, Robert M.; Orioli, Andrea; Migliavacca, Eugenia; Wiederkehr, Michaël; Gutierrez-Arcelus, Maria; Panousis, Nikolaos I.; Yurovsky, Alisa (2013-11-08). "Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription". Science. 342 (6159): 744–747. Bibcode:2013Sci...342..744K. doi:10.1126/science.1242463. ISSN   1095-9203. PMC   5502466 . PMID   24136355.
  24. ↑ Waszak, Sebastian M.; Delaneau, Olivier; Gschwind, Andreas R.; Kilpinen, Helena; Raghav, Sunil K.; Witwicki, Robert M.; Orioli, Andrea; Wiederkehr, Michael; Panousis, Nikolaos I.; Yurovsky, Alisa; Romano-Palumbo, Luciana (2015-08-27). "Population Variation and Genetic Control of Modular Chromatin Architecture in Humans". Cell. 162 (5): 1039–1050. doi: 10.1016/j.cell.2015.08.001 . ISSN   1097-4172. PMID   26300124. S2CID   16537629.
  25. ↑ Delaneau, O.; Zazhytska, M.; Borel, C.; Giannuzzi, G.; Rey, G.; Howald, C.; Kumar, S.; Ongen, H.; Popadin, K.; Marbach, D.; Ambrosini, G. (3 May 2019). "Chromatin three-dimensional interactions mediate genetic effects on gene expression". Science. 364 (6439): eaat8266. doi: 10.1126/science.aat8266 . ISSN   1095-9203. PMID   31048460. S2CID   143432659.
  26. ↑ Ongen, Halit; Brown, Andrew A.; Delaneau, Olivier; Panousis, Nikolaos I.; Nica, Alexandra C.; GTEx Consortium; Dermitzakis, Emmanouil T. (December 2017). "Estimating the causal tissues for complex traits and diseases". Nature Genetics. 49 (12): 1676–1683. doi:10.1038/ng.3981. ISSN   1546-1718. PMID   29058715. S2CID   2700102.
  27. ↑ Nica, Alexandra C.; Montgomery, Stephen B.; Dimas, Antigone S.; Stranger, Barbara E.; Beazley, Claude; Barroso, Inês; Dermitzakis, Emmanouil T. (2010-04-01). "Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations". PLOS Genetics. 6 (4): e1000895. doi: 10.1371/journal.pgen.1000895 . ISSN   1553-7404. PMC   2848550 . PMID   20369022.
  28. ↑ Ongen, Halit; Andersen, Claus L.; Bramsen, Jesper B.; Oster, Bodil; Rasmussen, Mads H.; Ferreira, Pedro G.; Sandoval, Juan; Vidal, Enrique; Whiffin, Nicola; Planchon, Alexandra; Padioleau, Ismael (2014-08-07). "Putative cis-regulatory drivers in colorectal cancer". Nature. 512 (7512): 87–90. Bibcode:2014Natur.512...87O. doi:10.1038/nature13602. ISSN   1476-4687. PMID   25079323. S2CID   4408628.
  29. ↑ ENCODE Project Consortium; Birney, Ewan; Stamatoyannopoulos, John A.; Dutta, Anindya; Guigó, Roderic; Gingeras, Thomas R.; Margulies, Elliott H.; Weng, Zhiping; Snyder, Michael; Dermitzakis, Emmanouil T.; Thurman, Robert E. (2007-06-14). "Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project". Nature. 447 (7146): 799–816. Bibcode:2007Natur.447..799B. doi:10.1038/nature05874. ISSN   1476-4687. PMC   2212820 . PMID   17571346.
  30. ↑ International HapMap 3 Consortium; Altshuler, David M.; Gibbs, Richard A.; Peltonen, Leena; Altshuler, David M.; Gibbs, Richard A.; Peltonen, Leena; Dermitzakis, Emmanouil; Schaffner, Stephen F.; Yu, Fuli; Peltonen, Leena (2010-09-02). "Integrating common and rare genetic variation in diverse human populations". Nature. 467 (7311): 52–58. Bibcode:2010Natur.467...52T. doi:10.1038/nature09298. ISSN   1476-4687. PMC   3173859 . PMID   20811451.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  31. ↑ GTEx Consortium (2015-05-08). "Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans". Science. 348 (6235): 648–660. doi:10.1126/science.1262110. ISSN   1095-9203. PMC   4547484 . PMID   25954001.
  32. ↑ "People | International Common Disease Alliance". www.icda.bio. Retrieved 2020-10-18.
  33. ↑ "Δερμιτζάκης: Με ήθελαν για διακοσμητικό στην Ερευνα και Καινοτομία". newsique.gr (in Greek). 2020-08-26. Retrieved 2020-10-18.
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