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The ESHG ‘National’ Fellowships
13 February, 2017
The ESHG offers fellowships to young investigators under 35 years of age via the National Human Genetics Societies of Europe.
The national society will select one fellowship holder, which should comply with the following criteria:
- She/he should be a 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 be over 35 years of age
- She/he cannot receive more than one fellowship in consecutive years.
Please, see the specific rules for participation of CSHG members here.
- Free registration (including social events and lunches)
- Accommodation and Travel support up to a maximum amount of EUR 600.-
Closing date for applications to the CSHG:
13th February 2017
Past Winners of the ESHG/CSHG Travel Awards
|Name and Title||Petros Patsali, MSc|
|Affiliation||King’s College London & The Cyprus Institute of Neurology and Genetics – Department of Molecular Genetics Thalassaemia|
|Abstract Title||Less 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 Affiliations||Petros 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)
|Abstract||Mutations 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.
|Name and Title||Maria 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>|