ESHG/LSHG courses for laboratory medical geneticists:
Translating genomics into the clinics
Venue: VilniusUniversity, Faculty of Medicine, 21 Čiurlionio Str., Vilnius
Friday, 29 May 2009
8.30-9.00 – Registration
9.00-9.20 - Welcoming addresses
Prof. B.Juodka, Rector of VilniusUniversity
Prof. Z.A.Kučinskienė, Dean of the Faculty of Medicine of VilniusUniversity; Member of the European Comission European Research Advisory Board
Prof. V.Kučinskas, President of the Lithuanian Society of Human Genetics, Board Member of the European Society of Human Genetics
Section: Molecular Genetic Testing
Chairpersons: Giuseppe Novelli, Prof., MD, PhD (Rome, Italy), Jan Lubinski, Prof., MD, PhD (Szczecin, Poland)
Moderators: Jūratė Kasnauskienė, Assoc. Prof., MD, PhD, Violeta Mikštienė, MD(Vilnius, Lithuania)
9.20-10.00 Genetic testing in the context of population‘s genetic history (Prof. Vaidutis Kučinskas, Vilnius, Lithuania)
10.00-10.50 Epidemiological data and strategies for diagnoses and control of genetic diseases in the genomic era: Part I (Prof. Giuseppe Novelli, Rome, Italy)
10.50-11.00 Discussion
11.00-11.15 Coffee break
11.15-12.00 Epidemiological data and strategies for diagnoses and control of genetic diseases in the genomic era: Part II (Prof. Giuseppe Novelli, Rome, Italy)
12.00-12.10 Discussion
12.10-12.55 Computational and statistical models for predictive testing and genetic Profiling in genome-wide association studies (Assoc. Prof. Erinija Pranckevičienė, Vilnius, Lithuania)
12.55-13.00 Discussion
13.00-14.30 Lunch
14.30-15.15 The latest advances in clinical genetics of cancer: Part I (Prof. Jan Lubinski, Szczecin, Poland)
15.15-15.25 Discussion
15.25-16.10 The latest advances in clinical genetics of cancer: Part II (Prof. Jan Lubinski, Szczecin, Poland)
16.10-16.15 Discussion
16.15-16.30 Coffee break
16.30-17.15 Next generation sequencing: next generation applications with the SOLiD ™ System(Dr. Marco L. Pirotta, Applied Biosystems)
Practical courses in groups
Group I
17.15-17.35 SoLid™ System Sequencing Data: A practical Example (Dr. Marco L. Pirotta, Applied Biosystems, moderator: Dr. Jūratė Kasnauskienė)
17.40-18.00 Microchip electrophoresis system for DNA/RNA analysis (Žydrūnas Stanius, Shimadzu, moderator: Violeta Mikštienė, MD)
Group II
17.15-17.35 Microchip electrophoresis system for DNA/RNA analysis(Žydrūnas Stanius, Shimadzu, moderator: Violeta Mikštienė, MD)
17.40-18.00 SoLid™ System Sequencing Data: A practical Example (Dr. Marco L. Pirotta, Applied Biosystems, moderator: Dr. Jūratė Kasnauskienė)
18.05-18-45 What's next in Now-Gen Sequencing: Introduction to Genome AnalyzerIIx system (Dr. Andreas Dahlgren, Illumina)
18.45-19.00 Results, common discussion
Saturday, 30 May 2009
9.00-9.45 Genetic counseling in multifactorial diseases (Prof. Helena Kääriäinen, Helsinki, Finland)
9.45-10.00 Discussion
10.00-10.45 Pyrosequencing in medical genetics (Dr. Marianne Alksnis, Qiagen GmbH)
10.45-11.00 Discussion
11.00-11.15 Coffee break
Section: Biochemical and Genetic Testing in inborn errors of metabolism
Chairpersons: Marinus Duran, PhD (Amsterdam, the Netherlands), Ron Wevers, Prof., PhD (Nijmegen, the Netherlands)
Moderators: Loreta Cimbalistienė, Assoc. Prof., MD, PhD, Jurgita Songailienė, MD, PhD, Birutė Tumienė, MD (Vilnius, Lithuania)
11.15-12.00 Introduction into diagnostics of inborn errors of metabolism (Dr. Marinus Duran, Amsterdam, the Netherlands)
12.00-12.10 Discussion
12.10-12.55 Inborn errors of amino acid metabolism (Dr. Carlo Dionisi-Vici, Rome, Italy)
12.55-13.00 Discussion
13.00-14.30 Lunch
14.30-15.15 Fatty acid oxidation disorders (Prof. Dr. Ute Spiekerkötter, Dusseldorf, Germany)
15.15-16.00 Organic acidurias (Dr. Carlo Dionisi-Vici, Rome, Italy)
16.00-16.15 Coffee break
Practical courses in groups
Group I
16.15-17.40 Workshop 1 (Inborn neurotransmitter and neurometabolic diseases; Prof. Ron Wevers, moderator:Birutė Tumienė, MD)
17.45-19.10 Workshop 2 (Organic acidurias and fatty acid oxidation disorders; Dr. Carlo Dionisi-Vici, Prof. Dr. Ute Spiekerkötter, moderator: Dr. Jurgita Songailienė)
Group II
16.15-17.40 Workshop 3 (Inherited amino acid and urea cycle disorders; Dr. Marinus Duran, moderator: Assoc. Prof. Loreta Cimbalistienė)
17.45-19.10 Workshop 1 (Inborn neurotransmitter and neurometabolic diseases; Prof. Ron Wevers, moderator:Birutė Tumienė, MD)
Group III
16.15-17.40 Workshop 2 (Organic acidurias; Dr. Carlo Dionisi-Vici, Prof. Dr. Ute Spiekerkötter, moderator: Dr. Jurgita Songailienė)
17.45-19.10 Workshop 3 (Inherited amino acid and urea cycle disorders; Dr. Marinus Duran, moderator: Assoc. Prof. Loreta Cimbalistienė)
Sunday, 31 May 2009
9.00-9.45 Congenital disorders of glycosylation (Prof. Ron Wevers, Nijmegen, the Netherlands)
9.45-10.00 Discussion
10.00-10.45 Inborn peroxisomal disorders (Dr. Marinus Duran, Amsterdam, the Netherlands)
10.45-11.00 Discussion
11.00-11.15 Coffee break
Practical courses in groups
Group I
11.15-12.40 Workshop 3 (Inherited amino acid and urea cycle disorders; Dr. Marinus Duran, moderator: Assoc. Prof. Loreta Cimbalistienė)
Group II
11.15-12.40 Workshop 2 (Organic acidurias and fatty acid oxidation disorders; Dr. Carlo Dionisi-Vici, Prof. Dr. Ute Spiekerkötter, moderator: Dr. Jurgita Songailienė)
Group III
11.15-12.40 Workshop 1 (Inborn neurotransmitter and neurometabolic diseases; Prof. Ron Wevers, moderator:Birutė Tumienė, MD)
12.40-13.00 General discussion
13.00-14.30 Lunch
Section: Cytogenetic Testing
Chairpersons: Gunnar Houge, Prof., MD, PhD (Bergen, Norway), Philippos Patsalis, PhD, (Nicosia, Cyprus)
Moderators: Algirdas Utkus, Assoc. Prof., MD, PhD, Vytautas Šliužas, PhD (Vilnius, Lithuania)
14.30-15.15 Cytogenetic analysis (Dr. Philippos Patsalis, Nicosia, Cyprus)
15.15-15.25 Discussion
15.25-16.10 From chromosomes to microarrays (Dr. Philippos Patsalis, Nicosia, Cyprus)
16.10-16.15 Discussion
16.15-16.30 Coffee break
16.30-17.15 High resolution aCGH and CNV analysis with Sureprint G3 Microarrays (Dr. Arnonas Finkelšteinas, Agilent)
17.15-17.30 Discussion
17.30 Afternoon excursions
Monday, 1 June 2009
9.00-9.45 Clinical utility of array-CGH (Prof. Gunnar Houge, Bergen, Norway)
9.45-10.00 Discussion
10.00-10.45 Chromosome biology and epigenetics (Prof. Gunnar Houge, Bergen, Norway)
10.45-11.00 Discussion
11.00-11.15 Coffee break
11.15-12.00 Prenatal and postnatal molecular karyotype analysis (Dr. Philippos Patsalis, Nicosia, Cyprus)
12.00-12.10 Discussion
12.10-12.55 Genetic counseling in prenatal diagnosis (Prof. Helena Kääriäinen, Helsinki, Finland)
12.55-13.00 Discussion
13.00-14.30 Lunch
14.30-15.15 Genetic counseling in postnatal diagnosis (Prof. Helena Kääriäinen, Helsinki, Finland)
Practical courses in groups
Group I
15.15-16.00 Practical training: conventional karyotyping (Dr. Philippos Patsalis; moderator:Assoc. Prof. Algirdas Utkus)
16.00-16.15 Coffee break
16.15-17.00 Practical training: molecular chromosome analysis (Prof. Gunnar Houge; moderator:Dr. Vytautas Šliužas)
Group II
15.15-16.00 Practical training: molecular chromosome analysis (Prof. Gunnar Houge; moderator:Dr. Vytautas Šliužas)
16.00-16.15 Coffee break
16.15-17.00 Practical training: conventional karyotyping (Dr. Philippos Patsalis, moderator:Assoc. Prof. Algirdas Utkus)
17.00-17.45 Agilent Bioanalyzer - the most successful micro-fluidics based platform, offering solutions for analysis of DNA, RNA, protein and cells (Dr. Arnonas Finkelšteinas, Agilent)
17.45-18.00 Results, common discussion, closing remarks
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