CSHG 4th International Conference Conference Schedule FRIDAY, 10TH OCTOBER 2014 16.00 – 17.00 Registration/Coffee 17.00 – 17.15 Welcoming addresses Adonis Ioannides, President of the Cyprus Society of Human Genetics Prof. Philippos Patsalis, Minister of Health SESSION 1 Chairs: Maria Pantelidou, Ioannis Patrikios 17.15 – 17.40 IOP1 Opposing roles of STAT1 and STAT3 in the Ischemic Myocardium Anastasis Stephanou, Nicosia, Cyprus 17.40 – 18.05 IOP2 Molecular targets of TPGS, a vitamin E derivative Andreas Constantinou, Nicosia, Cyprus 18.05 – 18.40 IL1 Application of NGS in the diagnostic setting: from genes to panels to exomes; and strategies to pinpoint the causative variant David Cockburn, Leeds, United Kingdom 18.40 – 19.15 IL2 Pharmacogenomics: A new tool for improvement of drug therapy Vangelis Manolopoulos, Alexandroupolis, Greece 20.30 Gala Dinner (1888 Wine & Cocktail Bar) SATURDAY, 11TH OCTOBER 2014 08.00 – 09.00 Registration SESSION 2 Chairs: Adonis Ioannides, George Tanteles 09.00 – 09.15 OP1 Application of molecular methodologies for the identification of genetic abnormalities in aborted fetuses/ intrauterine deaths that failed to grow in vitro Paola Evangelidou 09.15 – 09.30 OP2 Elevated muscle-‐specific miRNAs in serum of myotonic dystrophy patients relate to muscle disease progress Andrie Koutsoulidou 09.30 – 09.55 IOP3 Regulation and Targeting of Genes in Myogenesis and Inherited Muscle Diseases Leonidas Phylactou, Nicosia, Cyprus 09.55 – 10.20 IOP4 Twenty years of Clinical Genetics in Cyprus; from birth to adulthood Violetta Christophidou Anastasiadou, Nicosia, Cyprus 10.20 – 10.55 IL3 ‘Next Generation Sequencing demands Next Generation Phenotyping’ Raoul Hennekam, Amsterdam, Netherlands 11.00 – 11.30 Coffee break/ Poster viewing and discussion SESSION 3: AWARDS SESSION Chairs: Adonis Ioannides, Peter Karayiannis YOUNG INVESTIGATOR AWARD PRESENTATIONS 11.30 – 11.45 Transgenic replacement of oligodendrocyte gap junctions rescue the phenotype of a hypomyelinating leukodystrophy model Natasa Schiza 11.45 – 12.00 Interactions between Mediterranean diet, MTHFR and MTR genes influence breast cancer risk among Cypriot women Maria G. Kakkoura 12.00 – 12.15 Association of four Type 2 Diabetes susceptibility loci in the Cypriot population Christina Votsi 12.15 – 12.30 N-‐myristoylation is an important determinant of the subcellular localization of the glycogen binding protein Stbd1 Anthi Demetriadou 12.30 – 12.45 MyoD transcription factor induces myogenesis by inhibiting Twist-‐1 through miR-‐206 Demetris Koutalianos 12.45 – 13.00 Gene delivery targeted to myelinating cells to treat inherited neuropathies and leukodystrophy Alexia Kagiava 13.00 – 13.15 Co-‐inheritance of functional podocin variants with heterozygous collagen IV mutations predisposes to renal failure Charalambos Stefanou POSTER PRIZE PRESENTATIONS 13.15 – 13.20 Towards Personalized Gene Therapy for β-‐Thalassemia in Cyprus Petros Patsali 13.20 – 13.25 Next generation sequencing (NGS)-‐based MRD detection in combination with B-‐cell receptor repertoire population analysis in childhood B cell Acute Lymphoblastic Leukemia Katerina Nicolaou 13.25 – 13.30 Intraneural gene delivery improves nerve pathology in a mouse model of X-‐ linked CMT Irene Sargiannidou 13.30 – 14.30 Lunch break/ Poster viewing and discussion SESSION 4 Chairs: Constantinos Deltas, Kleopas Kleopa 14.30 – 15.05 IL4 Genetics of Parkinson's disease; an overview Georgios Hadjigeorgiou, Larissa, Greece 15.05 – 15.40 IL5 Abnormalities of type 4 Collagen: Alport’s syndrome and related nephritides Frances Flinter, London, United Kingdom 15.40 – 16.05 IOP5 Identification of modifier genes in inherited kidney diseases. The example of familial hematurias Konstantinos Voskarides, Nicosia, Cyprus 16.05 – 16.30 IOP6 Thalassaemia: a monogenic disease with a complex phenotype Marina Kleanthous, Nicosia, Cyprus 16.30 – 16.45 OP3 Homo sapiens exhibit a distinct pattern of CNV genes regulation: an important role of miRNAs and SNPs in expression plasticity Kyriacos Felekkis 16.45 – 17.00 OP4 Identification of a novel autosomal recessive ataxia protein Paschalis Nicolaou 17.00 – 17.30 Award of Prizes Closing remarks by the CSHG president IL – Invited Lecture IOP – Invited Oral Presentation OP – Oral Presentation YIA – Young Investigators Award presentation P – Poster presentation