Universitą degli studi di Pavia


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Kurtas's curriculum


Name & Surname: Edibe Nehir Kurtas
Birth: 04/10/1990
e-mail: edibenehir.kurtas01@universitadipavia.it
Nationality: Turkish


Period: from 10/2015
Course: PhD course in Genetics, Molecular and Cellular Biology
Structure: University of Pavia. Department of Molecular Medicine, Via Forlanini 14, 27100 Pavia (Pv), Italy

Period: 09/2013-08/2015
Course: Research Master's in Molecular Mechanisms of Disease
Structure: Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen (Netherlands)

Period: 09/2008–06/2013
Course: Bachelor’s degree in Molecular Biology and Genetics
Structure: Izmir Institute of Technology (IZTECH), Izmir (Turkey)

Honours and awards

.Awarded an Erasmus Scholarship Programme from Radboud University for internship at IRCCS
Istituto Auxologico Italiano from December,2014 to August,2015

.Awarded a Radboud Scholarship Programme grant (which consists of a tuition fee waiver, and the
covering of insurance and visa costs) from Radboud University for Master’s studies in March 2013

.Awarded a UMC Studyfund scholarship of €10.000 per year from Radboud University Medical
Centre in March 2013.

.Received a Bachelor’s degree in Molecular Biology and Genetics with High Honors in May 2013,
ranking in the top 14 students of IZTECH students.

.Awarded an Erasmus Scholarship Programme from Izmir Institute of Technology for summer
internship at University of Oxford in 2012

Professional experiences

-Research Internship with Prof. Palma Finelli in Medical Cytogenetics and Molecular Genetics Lab,
Biomedical Research and Technologies Center, IRCCS Istituto Auxologico Italiano, Milan, Italy
(from December,2014 to July,2015)
Title of the Project: Identification of novel molecular mechanisms for neurological conditions overlapping Smith-Magenis syndrome (SMS) without either 17p11.2 deletion or RAI1 gene mutation by using high throughput genomic approaches
Areas of interest: Sanger Sequencing, mutation screening, identification of disease causing genes, co-expression studies

-Research Internship with Prof. Joris Veltman in the Human Genetics department at the Radboud
University Nijmegen Medical Center in Nijmegen (from January,2014 to July,2014)
Title of the Project: Multiplex-targeted enrichment by Molecular Inversion Probes (MIPs) and
NGS: Identifying disease-causing mutations in patients with VACTERL association
Areas of interest: Next Generation Sequencing, mutation screening, identification of disease
causing genes

-Research Internship with Prof. Roger Patient in MRC Molecular Haematology Unit at University of
Oxford (June,2012 to August,2012)
Areas of interest: In situ hybridization, expression profile of Hox family genes in Xenopus

-Research Internship with Assoc. Prof. Volkan Seyrantepe at Izmir Institute of Technology
(September,2011 to June,2012)
Areas of interest: Mouse models for Tay Sachs disease

-Internship with Assoc. Prof. Hakan Savli in Department of Medical Genetics at Kocaeli University
Faculty of Medicine (August,2011)
Areas of Interest: Microarray analysis techniques


First language: Turkish
Other: English


Research project

Involvement of Chromotripsis in Small Supernumerary Marker Chromosomes
Patients with Small Supernumerary Marker Chromosomes (sSMC) may show a variety of phenotypes, from normal to severe developmental abnormalities. sSMCs are structurally rearranged chromosomes that occur in addition to the normal 46 chromosomes. Their chromosomal origin can be hardly defined by conventional cytogenetics due to their small size. Some of those analyzed by array (CGH or SNP) have revealed an unexpected complex constitution, with the final marker either containing either non-contiguous regions of the same chromosome or portions of a second chromosome. Microsatellites or SNP analysis of the trios, highlighted a preferential maternal origin with an increase in maternal age in most of them. All the data suggest that at least some of the sSMCs result from a partial trisomy rescue of a trisomic zygote due to maternal meiotic non-disjunction. A mosaicism with a normal and a trisomic cell line is reported in 2-3% of chorion villi. The normal cell line is the result of a “trisomy rescue”. It is assumed that the rescue of an entire supernumerary chromosome occurs via anaphase lagging. So, it seems logical to assume that the sSMC is the result of a partial trisomy rescue. It has been demonstrated that the recently known phenomenon called chromotripsis (CHR), is the result of anaphase lagging with the lagged chromosome that remains physically isolated into a micronucleus. Within it, the chromosome undergoes fragmentation with loss of some portions and messy reassembly of the other fragments, resulting in altered orientation of several parts. The aim is to prove that chromotripsis might be the underlying mechanism of the formation of most sSMCs, derived from incomplete trisomy rescue event. This study might also highlight any possible recurrence risk of the abnormal karyotype in following pregnancies.

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