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The ESHG ‘National’ Fellowships

The ESHG announces its annual conference fellowships here and offers fellowships to Early Career Investigators (ECIs), with no more than 4 years postdoctoral work experience) via the National Human Genetics Societies of Europe. The CSHG is one of those societies and is thus in a position to select one of its ECI members for a fellowship to attend the annual ESHG event.

The Cypriot fellowship is offered by the CSHG in line with the ESHG rules pointed out below. In addition to the €600.- fellowship offered by the ESHG, the CSHG provides up to an additional €400.- to the successful candidate, in order to allow coverage of proven additional expenses for travel and accommodation. This should allow young scientists to attend the annual ESHG conference, even if no independent funding is available.

Submission deadline for applications of CSHG candidates is 10th February 2023. The successful candidate will be announced on 18th March 2023 at our 9th International Conference, ahead of the ESHG early-bird registration deadline of 20th April.

The ESHG criteria are as follows:

The national society will select one fellowship holder, which should comply with the following criteria:

  • She/he should be a current member of the national society.
  • She/he should have shown excellence in the field of human genetics, and/or have given a good presentation/poster at the latest national meeting.
  • She/he should not have more than 4 years post-doctoral work experience.
  • She/he cannot receive more than one fellowship in consecutive years.
  • Only one person per country is eligible.

Specifically for the CSHG selection, the following applies additionally :

  • For consideration of applications for this fellowship, proof of submission of a conference abstract for this year’s ESHG conference is necessary.
  • The evaluation will consider in the review process
    • Participation at CSHG-relevant events [20%]
    • Active contribution to genetics and the scientific society in Cyprus [20%]
    • Achievements in the past year [20%]
    • Current ESHG abstract [20%]
    • Overall reviewer’s judgement [20%], including other contributions and achievements relative to career stage.

    To this end, indication of 2022/2023 publications, presentations, awards, invited lectures, research grants and teaching activities will be helpful.

    We look forward to learning more about our early-career CSHG members and to your application by e-mail here, which should include: 

  • Cover Note addressing the points above
  • Curriculum Vitae
  • ESHG 2023 Abstract
  • Proof of Abstract Submission 
  • Any Additional Supporting Materials

Key Limitations:

– She/he should have ≤ 4 years of postdoctoral work experience.
– She/he cannot receive more than one fellowship in consecutive years.

Key Benefits:

– Free registration (incl. social events & lunches)
– Accommodation & Travel support from ESHG ≤ €600.-
– Additional support from the CSHG for remaining associated expenses ≤ €400.-

Closing date: depending on national society but not later than 20 April 2023 (early-bird registration deadline).

Year 2022
Name and Title

Ouranio Anastasiou, PhD


Karaiskakio Foundation Cyprus

Abstract Title The rare case of a patient with neurodevelopmental disorder with epilepsy
Year 2021
Name and Title

Paraskevi Chairta, PhD


The Cyprus Institute of Neurology and Genetics

Abstract Title

Prediction of Parkinson’s disease risk based on genetic profile and established risk factors

Year 2020
Name and Title

Maria Zanti, MSc


The Cyprus Institute of Neurology and Genetics

Abstract Title

A comprehensive in silico analysis of the functional, structural and stability impact of the PALB2 p.Leu1143His variant of uncertain clinical significance.

Year 2019
Name and Title Petros Patsali, PhD

The Cyprus Institute of Neurology & Genetics

Abstract Title Safe and efficient personalised TALEN- and CRISPR/Cas9-based gene correction therapy for β-thalassaemia by non-viral delivery to primary cells
Year 2018
Name and TitleConstantia Aristidou, PhD
AffiliationThe Cyprus School of Molecular Medicine 
Abstract TitlePatient-specific variants identified by whole-exome sequencing underlie discordant phenotypes in familial apparently balanced translocations
Year 2017
PhotographPetros Patsali, Winner of the 2017 National ESHG Conference Fellowship for Cyprus
Name and TitlePetros Patsali, MSc
Selected oral presentation
AffiliationKing’s College London & The Cyprus Institute of Neurology and Genetics – Department of Molecular Genetics Thalassaemia
Abstract TitleLess means more: knockdown of aberrant HBBIVSI-110(G>A) mRNA restores HBB expression and enhances gene therapy by gene addition in primary erythroid cells
Authors and AffiliationsPetros Patsali, MSc1,2,*, Panayiota Papasavva, PhD1,3, Coralea Stephanou, MSc1,2,Soteroulla Christou, MD4, Maria Sitarou, MD4, Michael N Antoniou, PhD2, Carsten W Lederer, PhD1,3and Marina Kleanthous, PhD1,3


1Molecular Genetics of Thalassemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, 2370; 2Department of Medical and Molecular Genetics, King’s College London, London, United Kingdom, SE1 9RT; 3Cyprus School of Molecular Medicine, 1683 Nicosia, Cyprus; 4Thalassaemia Centre, Ministry of Health, Cyprus; * Presenting Author (PetrosPa@cing.ac.cy)

AbstractMutations reducing β-globin production and thus causing β-thalassemia are of global clinical importance. β-Thalassemia caused by the HBBIVSI-110(G>A) mutation (HGVS name: HBB:c.93-21G>A), which produces an abnormal splice acceptor site, is particularly frequent in many Western countries and causes severe thalassemia major in homozygotes.
Preclinical and clinical studies have highlighted patients with HBBIVSI-110(G>A) as difficult to treat with gene therapy by gene addition, suggesting an effect of the mutant locus on normal, endogenous or vector-encoded, β-globin alleles. Towards improved gene-addition treatment of affected patients and supposing that the mutant locus acts in trans by aberrant HBBIVSI-110(G>A)-derived mRNA, we therefore set out to reduce the latter by RNA interference. We recognised, first in a novel humanised murine erythroleukemia model and then in primary CD34+-derived erythroid cells from HBBIVSI-110(G>A)-homozygous patients, that specific knock-down of the aberrant HBBIIVSI-110(G>A) mRNA alone results in extremely significant induction of β-globin production from the mutant locus. In primary cells the resulting β-globin expression and phenotypic correction of erythroid-lineage differentiation is equal to or exceeds that achieved by same-sample control treatment with the clinically successful GLOBE gene-therapy vector. Furthermore, combination of HBBIVSI-110(G>A) knockdown with GLOBE results in significant improvement of both disease parameters compared to either treatment alone.
This study establishes aberrant HBBIVSI-110(G>A) mRNA as the main causative agent of disease severity in HBBIVSI-110(G>A) thalassaemia and as a potent target for mutation-specific gene therapy for β-thalassaemia. It moreover puts forward HBBIVSI-110(G>A) thalassaemia as a paradigm for the importance of allelic heterogeneity when applying gene therapy by gene addition.
Year 2016
Name and TitleMaria Loizidou, PhD
Affiliation The Cyprus Institute of Neurology and Genetics – Department of Electron Microscopy and Molecular Pathology
Abstract Title<no abstract submitted>
Authors and Affiliations<no abstract submitted>
Abstract<no abstract submitted>
Year 2015
Name and TitlePetros Patsali, MSc
AffiliationKing’s College London & The Cyprus Institute of Neurology and Genetics – Department of Molecular Genetics Thalassaemia
Abstract TitleTowards gene correction of IVS1-110 β-thalassaemia
Authors and AffiliationsPetros Patsali, MSc1,2, Claudio Mussolino, PhD3, Coralea Stephanou, MSc1,2, Michael N Antoniou, PhD2, Toni Cathomen, PhD3, Carsten W Lederer, PhD1,* and Marina Kleanthous, PhD1


1Molecular Genetics of Thalassemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, 2370; 2Department of Medical and Molecular Genetics, King’s College London, London, United Kingdom, SE1 9RT; 3Institute for Cell and Gene Therapy, University Medical Center Freiburg, Freiburg, Germany, 79106; * Presenting Author (PetrosPa@cing.ac.cy)

AbstractThalassemia is amongst the commonest single-gene disorders worldwide and caused by deficient production of α- or β-globin. The disease has limited curative treatment options, but as a monogenic disorder of the hematopoietic system is ostensibly an ideal target for gene therapy. Specific β-thalassemia mutations have already been addressed by the burgeoning field of genome editing, targeting mutations of minor prevalence in the West and combining homology-mediated gene repair with the expansion of corrected iPS cell clones

Our research is focused on the development of efficient gene-correction tools (TALENs and CRISPR-Cas9) specific for the common and severe HBBIVS1-110 (G>A) mutation, which in most Mediterranean and many Western countries has a frequency of above 20% (with 80% on the island of Cyprus) amongst β-thalassemia carriers. This mutation introduces an abnormal splice acceptor site in intron 1 of the β-globin gene, therefore retaining an intronic in-frame premature stop codon in the mature, aberrantly spliced mRNA.

In this study, we illustrate the high cleavage activity of novel IVS1-110-specific genome-editing tools (TALENs and CRISPR-Cas9) in HEK293T cells and in HBBIVS1-110-transgenic murine erythroleukemia cells. Towards the assessment of therapeutic efficiency of our designer nucleasese at the mRNA level, we have validated a multiplex RT-qPCR method for the absolute quantification of the correctly and aberrantly spliced HBB mRNAs. Finally, immunoblots indicate the partial correction of β-globin protein expression in treated HBBIVS1-110-transgenic MEL cells compared to mock controls. These preliminary data indicate HBBIVS1-110 as a suitable target for gene therapy genome editing and that our approach may serve as a model for the correction of many other intronic disease-causing mutations.

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