Final Programme

Oral Presentations
Friday September 30th
16.00 onwards Registration  
18.00 Welcome Iwar Klimes, Slovakia
18.10 Key Note Lecture
Type 2 diabetes and obesity genetics from GWAS to NGS: The route towards stratified medicine? 		Philippe Froguel, France
Chair Iwar Klimes, Slovakia
19.00 Pre dinner drinks  
19.30 Dinner  
Saturday October 1st
9.00 Lessons from whole genome & exome resequencing in diabetes
 Chairs Philippe Froguel (France), Sian Ellard (UK) 		 
9.00 Diamonds in the dirt: finding T2D-risk alleles in an analysis of 10 trillion genotypes Mark McCarthy, UK
9.30 Progress in neonatal diabetes using old as well as new sequencing methods Andrew Hattersley, UK
10.00 Exome-discovery driven association studies of metabolic traits - an interim analysis Oluf Pederson, Denmark
10.30 Next-generation exome sequencing and genetic testing in monogenic diabetes: A Norwegian experience Pal Njolstad, Norway
11.00 Coffee & Posters  
11.30 Functional follow up of GWAS Signals
Chairs Anders Molven (Norway), Jorge Ferrer (Span) 		 
11.30 Translating association signals into molecular mechanisms for diabetes Anna Gloyn, UK
12.00 Rare non-functional mutant melatonin MT2 receptors strongly contribute to increased type 2 diabetes risk Amelie Bonneford, France
12.30 Functional characterisation of variants in G6PC2 associated with fasting blood glucose Richard O’Brien, USA
13.00 Pleiotropic effects of genetic variants on risk of type 2 diabetes Valeriya Lyssenko, Sweden
13.30 Lunch  
15.00 Beta-cell Functional Genomics
Cecilia Lindgren, Charlotte Ling 		 
15:00 Charting the epigenome of beta cells in health and disease Jorge Ferrer (Spain)
15.30 Cross talk between candidate genes for T1D and the gene networks regulating beta cell apoptosis Decio Eizirik (Belgium)
16.00 Tea & Posters  
17.00 EASD-SGGD 2011 Young Investigator Award
(Chairs Richard O’Brien, Oluf Pederson)
Judges Iwar Klimes (Slovakia), Ines Barroso (UK), Richard O’Brien (USA), Oluf Pederson (Denmark) 		 
17.00 NKX2-2 Mutations are a Novel Cause of Permanent Neonatal Diabetes and Neurological Abnormalities Sarah Flanagan, Exeter, UK
17.15 The Role of Transcriptional Targets of miRNAs Highly Expressed in Human Pancreatic Islets in Type 2 Diabetes Risk. Martijn van de Bunt, Oxford, UK
17.30 Should I Test this Patient for Maturity-Onset Diabetes of the Young (MODY)? A Validated Clinical Prediction Model to Determine the Probability of MODY in Patients with Young Onset Diabetes Beverley Shields, Exeter, UK
17.45 DNA Methylation of the Glucagon-Like-Peptide-1 Receptor (GLP1R) in Human Pancreatic Islets Elin Hall, Lund, Sweden
18.00 CLOSE OF SCIENTIFIC SESSIONS  
19.30 Dinner  
Sunday October 2nd
9.00 Update on Hypoglycaemia of Infancy
Chairs Anna Gloyn (UK), Pal Njolstad (Norway) 		 
9.00 Dissecting the genetic heterogeneity of hyperinsulinaemic hypoglycaemia Sian Ellard, UK
9.30 Congenital hyperinsulinemic hypoglycaemia: from candidate gene screening to exome sequencing Anders Molven, Norway
10.00 Severe hypoglycaemia of infancy due to activating glucokinase gene mutation Antonio Cuesta-Munoz, Spain
10.30 A New Mouse Model of GCK-HI with an Unexpected Phenotype Ben Glaser, Israel
11.00 Coffee & posters  
11.30 ORAL PRESENTATIONS: Pharmacogenetic, Physiological & Functional Studies in Type 2 Diabetes
Chairs Katharine Owen (UK), Maciej Malecki (Poland) 		 
11.30 Genetics Variants Associated with Diabetes Related Circulating Metabolite Levels and their Role in Type 2 Diabetes and Insulin Sensitivity. Tim Frayling, Exeter, UK
11.45 Parent-of-Origin Effect of GRB10 variants for Insulin Secretion and Risk of Type 2 Diabetes Wenny Poon, Lund, Sweden
12.00 The C Allele of ATM RS11212617 does not associate with Metformin Response in the Diabetes Prevention Programme Jose Florez, Boston, USA
12.15 Investigation of the Genetic Influence on Splice Pattern Distribution in Human Pancreatic Islet Olla Hansson, Lund, Sweden
12.30 Lunch  
14.00 CEED 3 Translational session / Monogenic Diabetes
Chairs Andrew Hattersley (UK), Mark McCarthy (UK) 		 
14.00 Permanent neonatal diabetes: new syndromes, new scientific insights, new clinical solutions Maciej Malecki (Poland)
14.30 Genetics of type 2 diabetes -back to families Leif Groop (Sweden)
15.00 From GWAS to clinic - new ways to diagnose MODY Katharine Owen (UK)
15.30 Monogenic defects of insulin secretion: the Slovakian experience Iwar Klimes (Slovakia)
16.00 Tea & Posters  
17.00 ORAL PRESENTATIONS: Next Generation Sequencing, Metabochip & Rare Variants
Chairs Valeriya Lyssenko (Sweden), Ben Glaser (Israel) 		 
17.00 Genome-Wide Association Analysis of Rare Variants with Type 2 Diabetes Identifies Three Potential Novel Susceptibility Genes: BMP2, IGFL4 and CLK3. Andrew Morris, Oxford, UK
17.15 Large-Scale Replication Using “Metabochip” Array Identifies Assitional Genetic Loci Influencing Glycaemic Traits Ines Barroso, Cambridge, UK
17.30 Search for the Variant Explaining T2D Linkage to Chromosome 9 Petter Vikmann, Lund, Sweden
17.45 Selection of Extreme Cases and Controls as a Strategy for Efficient While Genome Sequencing Leads to Enriched Detection of Most Known T2D Genes Anubha Mahajan, Oxford, UK
18.00 CLOSE OF SCIENTIFIC SESSIONS  
19.30 Dinner (Announcement of Prize winners)  
Monday October 3rd
9.00 Epigenetics in Diabetes & Obesity
Chairs Leif Groop (Sweden), Decio Ezrik (Belgium) 		 
9.00 DNA methylation in adipose tissue and obesity Cecilia Lindgren, UK
9.30 Epigenetic impact on type 2 diabetes. Charlotte Ling, Sweden
10.00 Coffee  
10.30 ORAL PRESENTATIONS: Monogenic Forms of Diabetes & Insulin Resistance
Amelie Bonneford (France), Antonio Cuesta-Munoz (Spain) 		 
10.30 Mitochondrial Dysfunction and Endoplasmic Reticulum Stress Case B-cell Failure in Diabetes in Fredrich’s Ataxia Miriam Cnop, Brussels, Belgium
10.45 Identification and Functional Characterisation of Novel Inactivating Glucokinase Mutations Causing GCK-MODY in Slovakia Lucia Valentinova, Bratislava, Slovakia
11.00 ABCC8 E1507K Mutation in a Large French Pedigree Causes Hyperinsulinemic Hypoglycaemia in Neonates and Diabetes in Adults. Cecile Saint-Martin, Paris, France
11.15 Whole Exome Sequencing and the Identification of Candidate Genes for Severe Insulin Resistance Felicity Payne, Cambridge, UK
11.30 Posters & Discussion  
12.00 Lunch  
13.00 CLOSE OF THE MEETING  

Poster Presentations

Please note: The poster size is A0 portrait!

PS 01 Monogenic Diabetes

  1. Czech Registry of Monogenic Diabetes: Etiological Diagnosis Clarified in 522 Patients from 217 Families

    J. Lebl, S. Pruhova, P. Dusatkova, K. Vesela, Z. Sumnik, S. Kolouskova, K. Stechova, B. Obermannova, O. Cinek

  2. HDL-cholesterol: Differentiating between HNF-1alpha MODY and Type 2 Diabetes

    T.J. McDonald, E.R. Pearson, I.S. Young, A.T. Hattersley

  3. The identication of islet autoantibodies in patients with molecular genetically diagnosed monogenic diabetes

    J. Urbanova, B. Rypackova, M. Andel

  4. Genetic testing of MODY: Results from a mediterranean population over 13 years

    A. Jesus Blanco, J. Antonio Amor, M. Mora, J. Oriola, R. Casamitjana, I. Conget, J. Ferrer

  5. A novel genetic variant in MODY: Deletion of GYG2

    H. Irgens, J. Molnes, M. Ringdal, O. Søvik, S. Johansson, A. Molven, P. Njølstad

  6. Ancestral mutations causing glucokinase diabetes in three Slavic populations

    P. Dusatkova, S. Pruhova, M. Borowiec, D. Gasperikova, I. Klimes, J. Lebl, W. Mlynarski, O. Cinek

  7. Cystatin C is not a good candidate biomarker for HNF1A MODY

    N. Nowak, M. Szopa, G. Thanabalasingham, T. McDonald, T.J. James, J. Skupien, B. Kiec-Wilk, E. Kozek, W. Mlynarski, A.T. Hattersley, K.R. Owen, M.T. Malecki

  8. HBA1C-based diabetes diagnosis among families with glucokinase deciency (GCK-MODY) is aected by genetic variant of glucose-6-phosphatase (G6PC2)

    M. Borowiec, W. Fendler, P. Dusatkova, K. Antosik, S. Pruhova, O. Cinek, M. Mysliwiec, P. Jarosz-Chobot, M.T. Malecki, W. Mlynarski

  9. No evidence for a founder eect of prevalent mutations in the 125th amino acid of the HNF4A gene causing HNF4A-MODY

    S. Pruhova, P. Dusatkova, J. Lebl, O. Cinek

  10. Evaluation of apolipoprotein M as a potential biomarker for HNF1A-MODY

    S. Mughal, R. Park, N. Nowak, A.L. Gloyn, F. Karpe, M.T. Malecki, M. Stoffel, M.I. McCarthy, K.R. Owen

  11. Evaluation of protein glycosylation as a biomarker for maturity onset diabetes of the young (MODY) due to hepatocyte nuclear factor 1 alpha (HNF1A) mutations

    K.R. Owen, G. Thanabalasingham, J. Huffman, J. Kattla, C. Hayward, I. Rudan, M. Novokmet, J.F. Wilson, A. Knezevic, B. Adamczyk, S.H. Wild, N. Hassanali, A. Bennett, T. Hansen, O. Pedersen, T. Nielson, I. Klimes, D. Gasperikova, J. Stanik, P. Njolstad, E. Tjora, M. Strachan, R. Reynolds, N. Hastie, A.L. Gloyn, H. Campbell, P.M. Rudd, A.F. Wright, G. Lauc, M.I. McCarthy

  12. Pharmacogenomics in HNF1A mutation carriers in Slovakia

    J. Stanik, M. Huckova, L. Barak, L. Valentinova, I. Masindova, D. Stanikova, V. Sandrikova, E. Jancova, D. Gasperikova, I. Klimes

  13. Monogenic diabetes in Slovakia: A large part of MODY patients does have any mutation in the nine MODY genes

    D. Gasperikova, J. Stanik, M. Huckova, L. Valentinova, I. Masindova, D. Stanikova, L. Barak, M. Kusekova, V. Sandrikova, J. Javorkova, N. Misovicova, J. Michalek, Slovak Monogenic Diabetes Study Group, I. Klimes

  14. Effect of the of the variant I27L of HNF-1alpha on the clinical phenotype of patients with monogenic diabetes due to inactivating glucokinase gene mutations

    T. Hansen, P. Nojstald, I. Klimes, A. Cuesta-Munoz

PS 02 Neonatal Diabetes

  1. Evaluation of patients with diabetes due to Kir 6.2 mutations up to five years following transfer from insulin to oral sulphonylureas

    N. Thomas, S.E. Flanagan, J. Kumaraguru, S. Ellard, A.T. Hattersley

  2. Genetic characterization of neonatal diabetes in Spain

    J. Perez-Camara, R. Martinez, I. Rica, I. Garin, G. Perez de Nanclares, Spanish Group of Neonatal Diabetes, L. Castano

  3. Permanent neonatal diabetes without pancreatic agenesis resulting from recessive PDX1 (IPF1) mutations

    E. De-Franco, S.E. Flanagan, J. Wolf, T. Vasanthi, A.T. Hattersley, S. Ellard

  4. Long-term follow up of patients with permanent neonatal diabetes mellitus who have been switched 6 years ago - based upon DNA diagnostics – from insulin treatment to glibenclamide

    M. Paskova, A. Dankovcíkova, A. Hattersley, S. Ellard, J. Staník, D. Gasperikova, I. Klimes

PS 03 Hypoglycaemia of Infancy

  1. Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age

    R. Murphy, D. MacKay, E. Mitchell

  2. Common methylation variation in H19 and KCNQ10T1 imprinting control regions in those born small for gestational age

    R. Murphy, J. MD Thompson, E.A. Mitchell on behalf of the Auckland Birthweight Collaborative Study Group

  3. Novel mutations found at the genetic characterization of congenital hyperinsulinism Spanish population

    R. Martinez, J. Perez-Camara, I. Garin, C. Fernandez, Spanih Group of Congenital Hyperinsulinism, L. Castano

  4. Hyperinsulinaemic-hypoglycaemia and diabetes mellitus due to dominant mutations in the KATP channel genes

    S. E. Flanagan, R.R. Kapoor, J.P. Shield, K. Hussain, S. Ellard

PS 04 Gene Expression and Functional Studies

  1. Sumoylation of pancreatic glucokinase regulates its cellular stability and activity

    L. Bjørkhaug, I. Aukrust, J. Molnes, W. Haas, S.P. Gygi, O. Søvik, T. Flatmark, R.N. Kulkarni, P.R. Njølstad

  2. Beta-carotene and arachidonic acid-Induced methylation of DNA in cultured human endothelial cells and preadipocytes

    B. Kiec-Wilk, A. Polus, A. Chudy, J. Mathers, M. Malecki, A. Dembinska-Kiec

  3. Effect of hypoxia and glutamine or glucose deprivation on the insulin receptor, IRS1, IRS2 and RRAD mRNA expression in glioma U87 cells with ERN1 loss of function

    O. Minchenko, A. Kharkova, M. Moenner, D. Minchenko

  4. Increased instability and cellular degradation/aggregation of glucokinase as the cause of GCK-MODY

    M. Negahdar, I. Aukrust, B.B. Johansson, J. Molnes, O. Søvik, T. Flatmark, P.R. Njølstad, L. Bjørkhaug

PS 05 Type 1 Diabetes

  1. Gene expression prole of immunocompetent cells and it's relevance to type 1 diabetes

    Stechova, J. Vcelakova, L. Petruzelkova, S. Kolouskova, R. Blatny, J. Lebl

  2. A variant in PTPN22 and HLA-DQ haplotypes are associated with presence of autoantibodies but not with development of diabetes in non-diabetic adults

    M.K. Andersen, V. Lundgren, B. Isomaa, L. Groop, T. Tuomi

  3. Polymorphisms in the interferon induced with helicase 1(IFIH1) gene, frequency of enterovirus in monthly fecal samples during infancy, and islet autoimmunity

    E. Witsø, O. Cinek, G. Tapia, L.C. Stene, K.S. Rønningen

  4. HLA genotyping importance for T1D prediction and its correlation with autoantibody status

    J. Vcelakova, L. Petruzelkova, K. Stechova, J. Lebl, M. Vyhnankova, S. Kolouskova

PS 06 Type 2 Diabetes and Related Traits

  1. The gene polymorphisms and LDL density in prediabetic patients. the LIPGENE study.

    M. Malczewska-Malec, B. Kiec-Wilk, I. Wybranska, J. Hartwich, P. Perez-Martinez, C. Marin, J. Lopez-Miranda, A.C. Tierney, J. Mc Monagle, H.M. Roche, C. Defoort, P. Wolkow

  2. Postprandial level of incretins (GLP-1 and GIP) after oral lipid (OLTT) versus oral glucose tolerance (OGTT) tests in metabolic syndrome patients with GWAS indicated TCF7L2 and PPAR-y SNIPs

    M. Kiec-Klimczak, M. Malczewska-Malec, A. Zdzienicka, A. Gruca, D. Pach, A. Hubalewska-Dydejczyk, A. Dembinska-Kiec

  3. Dietary intervention, postprandial atherogenic risk and gene polymorphism in patients with prediabetes. The LIPGENE study

    B. Kiec-Wilk, M. . Malczewska-Malec, J. Hartwich, D. Siedlecka, J. Goralska, P. Wolkow, E. Stepien, P. Perez-Martinez, C. Marin, Y. Jimenez, J. Lopez-Miranda, A.C. Tierney, J. Mc Monagle, H.M. Roche, C. Defoort, A. Dembinska-Kiec

  4. Association study of six type 2 diabetes candidate genes with glucose-lowering eect of sulfonylurea drugs

    M. Javorsky, Z. Schroner, L. Klimcakova, V. Habalova, M. Dobrikova, J. Zidzik, E. Babjakova, M. Fabianova, E. Slaba, J. Haluskova, J. Salagovic, I. Tkac

  5. Glucocorticoid receptor polymorphisms are associated with reduced first-phase glucose-stimulated insulin secretion and disposition index in women

    N. van Leeuwen, D.H. van Raalte, A.M. Simonis-Bik, G. Nijpels, T.W. van Haeften, S.A. Schafer, I.D. Boomsma, M.H.H. Kramer, R.J. Heine, J.A.Maassen, K. Kirchhoff, F. Machicao, H.U. Haring, P.E. Slagboom, G. Willemsen, E.J. de Geus, J.M. Dekker, A. Fritsche, E.M. Eekhoff, M. Diamant, L.M. ´t Hart

  6. Beta cell gene expression experiments in type 2 diabetes

    D. Pasko, T.M. Frayling

  7. Investigation of type 2 diabetes risk variants in a south asian population establishes a role for eight variants in diabetes susceptibility

    N. Hassanali, M.G. De Silva, N. Robertson, N.W. Rayner, A. Barret, Ch.J. Groves, A.J. Bennett, D. Matthews, P. Katulanda, T.M. Frayling, M.I. McCarthy

  8. Variation in the monoamine oxidase a gene promoter influences skeletal muscle glucose metabolism

    C. Ladenvall, T. Elgzyri, Y. Zhou, P. Osmark, J.G. Eriksson, A. Rosengren, V. Lyssenko, J. Soderstrom, B. Ostman, B. Forsen, P. Nilsson, T. Tuomi, K. Raikkonen, M. Orho-Melander, B. Isomaa, K.F. Eriksson, L. Groop, O. Hansson

  9. Two common genetic variants near nuclear encoded oxphos gene are associated with insulin secretion in vivo

    T. Ronn, A. Olsson, C. Ladenvall, H. Parikh, B. Isomaa, L. Groop, CH. Ling

  10. A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes

    A.H. Olsson, T. Koeck, M.D. Nitert, V.V. Sharoyko, C. Landevall, O. Kotova, E. Reiling, T. Ronn, H. Parikh, J. Taneera, J.G. Eriksson, M.D. Metodiev, N.G. Larsson, A. Balhuizen, H. Luthman, A. Stancakova, J. Kuusisto, M. Laakso, P. Poulsen, A. Vaag, L. Groop, V. Lyssenko, H. Mulder, Ch. Ling

  11. A genome-wide association analysis of >120,700 individuals identifies sex-differentiated effects for fasting glycaemic traits

    I. Prokopenko, R. Magi, J.J. Hottenga, H. Grallert, N. Bouatia-Naji, J.R.B. Perry, I. Barroso, J.C. Florez, A.Morris, E. Ingelsson, V. Lyssenko, R.M. Watanabe, J. Dupuis

  12. A common regulatory PPARG2 polymorphism

    M. Claussnitzer, V. Glunk, H. Hauner, H. Laumen

  13. Trans-ethnic fine-mapping of type 2 diabetes susceptibility loci using a "cosmopolitan" reference panel for imputation

    M. Horikoshi, S. Wiltshire, N. Kato, J. Asimit, N.W. Rayner, N. Robertson, A. Mahajan, F. Takeuchi, T.Y. Ying, E. Zeggini, A.P. Morris, M.I. McCarthy, T2D-GENES

  14. TMEM18 – the obesity candidate gene with the most complex influence on anthropometric features in Czech women

    B. Bendlová, M. Vaňková, J. Včelák, O. Bradnová, D. Vejražková, H. Kvasničková, P. Lukášová Institute of Endocrinology, Prague, Czech Republic

  15. NME7-T2DM candidate gene confirmed in the Czech population

    J. Včelák, O. Šeda, M. Vaňková, D. Vejražková, H. Zamrazilová, P. Lukášová, V. Hainer, P. Hamet, B. Bendlová

  16. Vaspin regulates insulin sensitivity - lessons from animal and human genetic studies

    J. Breitfeld1, D. Schleinitz1, N. Klöting2, J. T. Heiker3, U. Enigk1, M. Kern3, Y. Böttcher3, M. Prellberg1, K. E. Dietrich1, N. Wiele3, A. Tönjes3, A. G. Beck-Sickinger4, M. Stumvoll3, M. Blüher3, P. Kovacs1

PS 07 Diabetes Complications

  1. Meta-analysis of genome-wide association studies for diabetic nephropathy

    Jose C. Florez, Niina Sandholm, Amy Jayne McKnight, Rany M. Salem, Eoin P. Brennan, Carol Forsblom, Tamara Isakova, Gareth J. McKay, Candace Guiducci, Winfred W. Williams, Denise M. Sadlier, Cameron Palmer, Jenny Söderlund, Emma Fagerholm, Valma Harjutsalo, Raija Lithovius, Daniel Gordin, Kustaa Hietala, Janne Kytö, Maija Parkkonen, Milla Rosengård-Bärlund, Lena Thorn, Anna Tiitu, Nina Tolonen, Markku Saraheimo, Johan Wadén, Janne Pitkäniemi, Cinzia Sarti, Jaakko Tuomilehto, Karl Tryggvason, Anne-May Österholm, Bing He, Steve Bain, Finian Martin, Catherine Godson, Joel N. Hirschhorn, Per-Henrik Groop and Alexander P. Maxwell for the GENIE Consortium

  2. Genetic loci influence glycemic traits and development of diabetic nephropathy

    S. Alkayyali, M. Lajer, P. Rossing, L. Groop, V. Lyssenko

Please note: The poster size is A0 portrait!