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ESHG/LSHG
courses for laboratory medical geneticists:
Translating
genomics into the clinics
Venue: Vilnius
University, Faculty of Medicine, 21
Čiurlionio Str., Vilnius
May 29 – June
1, 2009.
Course summary:
the duration of courses – 32 hrs.
The teaching will be made at a basic level with lectures and practical
training sessions provided by most outstanding European lecturers. The
Courses will consist of three parts (10 hrs each): molecular genetics,
cytogenetics and biochemical genetics plus two hours of social programme. The number of participants is limited
to 50, participants will be divided in two-three groups for the practical
sessions for allowing sufficient time for direct interaction in practical
problems solving.
Teaching staff:
Prof. Vaidutis Kučinskas PhD, Dr. Habil.(Vilnius, Lithuania).
Erinija Pranckevičienė PhD (Vilnius, Lithuania).
Prof. Giuseppe Novelli PhD (Rome, Italy).
Prof. Helena Kääriäinen MD, (Helsinki, Finland).
Marco L. Pirotta PhD (Applied Biosystems)
Žydrūnas Stanius (Shimadzu)
Marianne Alksnis PhD (Qiagen GmbH)
Prof. Jan Lubinski MD, PhD (Szczecin, Poland).
Philippos Patsalis PhD (Nicosia, Cyprus).
Prof. Gunnar Houge MD, PhD (Bergen, Norway).
Arnonas Finkelšteinas, PhD (Agilent)
Prof. Ron Wevers PhD (Nijmegen, the Netherlands).
Marinus Duran PhD (Amsterdam, the Netherlands).
Carlo Dionisi-Vici MD, PhD (Rome, Italy).
Prof. Ute Spiekerkötter PhD (Düsseldorf, Germany).
Andreas Dahlgren PhD (Illumina).
Jūratė Kasnauskienė MD, PhD (Vilnius, Lithuania).
Violeta Mikštienė MD (Vilnius, Lithuania).
Assoc. Prof. Algirdas Utkus MD, PhD (Vilnius, Lithuania).
Vytautas Šliužas PhD (Vilnius, Lithuania).
Assoc. Prof. Loreta Cimbalistienė MD, PhD (Vilnius, Lithuania).
Jurgita Songailienė PhD (Vilnius, Lithuania).
Birutė Tumienė, MD (Vilnius, Lithuania).
Course programme:
MS. Word version of the course programme is available
here
| Friday, 29 May 2009 |
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8.30 - 9.00
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Registration
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9.00 - 9.20
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Opening ceremony
Welcoming addresses by
Prof. B.Juodka, Rector of Vilnius University
Prof. Z.A.Kučinskienė, Dean of the Faculty of Medicine of Vilnius University; 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
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| Section: Molecular Genetic Testing |
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9.20 - 10.00
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Genetic testing in the context of population‘s genetic history
(Prof. Vaidutis Kučinskas, Vilnius, Lithuania)
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10.00 - 10.50
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Epidemiological data and strategies for diagnoses and control of genetic diseases in the genomic era: Part I
(Prof. Giuseppe Novelli, Rome, Italy)
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10.50 - 11.00
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Discussion
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11.00 - 11.15
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Coffee break
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11.15 - 12.00
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Epidemiological data and strategies for diagnoses and control of genetic diseases in the genomic era: Part II
(Prof. Giuseppe Novelli, Rome, Italy)
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12.00 - 12.10
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Discussion
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12.10 - 12.55
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Computational and statistical models for predictive testing and genetic Profiling in genome-wide association studies
(Assoc. Prof. Erinija Pranckevičienė, Vilnius, Lithuania)
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12.55 - 13.00
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Discussion
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13.00 - 14.30
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Lunch
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14.30 - 15.15
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The latest advances in clinical genetics of cancer: Part I
(Prof. Jan Lubinski, Szczecin, Poland)
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15.15 - 15.25
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Discussion
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15.25 - 16.10
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The latest advances in clinical genetics of cancer: Part II
(Prof. Jan Lubinski, Szczecin, Poland)
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16.10 - 16.15
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Discussion
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16.15 - 16.30
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Coffee break
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16.30 - 17.15
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Next generation sequencing: next generation applications with the SOLiD™ system
(Dr. Marco L. Pirotta, Applied Biosystems)
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| Practical courses in groups |
| Group I |
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17.15 - 17.35
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SoLid™ System Sequencing Data: A practical Example
(Dr. Marco L. Pirotta, Applied Biosystems, Moderator: Dr. Jūratė Kasnauskienė)
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17.40 - 18.00
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Microchip electrophoresis system for DNA/RNA analysis
(Žydrūnas Stanius, Shimadzu, Moderator: Violeta Mikštienė )
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| Group II |
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17.15 - 17.35
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Microchip electrophoresis system for DNA/RNA analysis
(Žydrūnas Stanius, Shimadzu, Moderator: Violeta Mikštienė )
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17.40 - 18.00
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SoLid™ System Sequencing Data: A practical Example
(Dr. Marco L. Pirotta, Applied Biosystems, Moderator: Dr. Jūratė Kasnauskienė)
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| |
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18.05 - 18.45
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What's next in Now-Gen Sequencing: Introduction to Genome AnalyzerIIx system
(Dr. Andreas Dahlgren, Illumina)
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18.45 - 19.00
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Results, common discussion
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| Saturday, 30 May 2009 |
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9.00 - 9.45
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Genetic counseling in multifactorial diseases
(Prof. Helena Kääriäinen, Helsinki, Finland)
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9.45 - 10.00
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Discussion
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10.00 - 10.45
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Pyrosequencing in medical genetics
((Dr. Marianne Alksnis, Qiagen GmbH)
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10.45 - 11.00
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Discussion
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11.00 - 11.15
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Coffee break
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| Section: Biochemical Genetic Testing In Inborn Errors Of Metabolism |
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11.15 - 12.00
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Introduction into diagnostics of inborn errors of metabolism
(Dr. Marinus Duran, Amsterdam, the Netherlands)
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12.00 - 12.10
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Discussion
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12.10 - 12.55
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Inborn errors of amino acid metabolism
(Dr. Carlo Dionisi-Vici, Rome, Italy)
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12.55 - 13.00
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Discussion
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13.00 - 14.30
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Lunch
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14.30 - 15.15
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Fatty acid oxidation disorders
(Prof. Ute Spiekerkötter, Düsseldorf, Germany)
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15.15 - 16.00
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Organic acidurias
(Dr. Carlo Dionisi-Vici, Rome, Italy)
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16.00 - 16.15
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Coffee break
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| Practical courses in groups |
| Group I |
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16.15 - 17.40
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Workshop 1
Inborn neurotransmitter and neurometabolic diseases
(Prof. Ron Wevers, moderator: Birutė Tumienė)
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17.45 - 19.10
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Workshop 2
Organic acidurias and fatty acid oxidation disorders.
(Dr. Carlo Dionisi-Vici, Prof. Ute Spiekerkötter, moderator: Dr. Jurgita Songailienė)
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| Group II |
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16.15 - 17.40
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Workshop 3
Inherited amino acid and urea cycle disorders
(Dr. Marinus Duran, moderator: Assoc. Prof. Loreta Cimbalistienė)
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17.45 - 19.10
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Workshop 1
Inborn neurotransmitter and neurometabolic diseases
(Prof. Ron Wevers, moderator: Birutė Tumienė)
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| Group III |
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16.15 - 17.40
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Workshop 2
Organic acidurias and fatty acid oxidation disorders.
(Dr. Carlo Dionisi-Vici, Prof. Ute Spiekerkötter, moderator: Dr. Jurgita Songailienė)
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17.45 - 19.10
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Workshop 3
Inherited amino acid and urea cycle disorders
(Dr. Marinus Duran, moderator: Assoc. Prof. Loreta Cimbalistienė)
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| Sunday, 31 May 2009 |
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9.00 - 9.45
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Diagnostics of congenital disorders of glycosylation
(Prof. Ron Wevers, Nijmegen, the Netherlands)
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9.45 - 10.00
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Discussion
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10.00 - 10.45
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Inborn peroxisomal disorders
(Dr. Marinus Duran, Amsterdam, the Netherlands)
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10.45 - 11.00
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Discussion
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11.00 - 11.15
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Coffee break
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| Practical courses in groups |
| Group I |
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11.15 - 12.40
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Workshop 3
Inherited amino acid and urea cycle disorders
(Dr. Marinus Duran, moderator: Assoc. Prof. Loreta Cimbalistienė)
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12.40 - 13.00
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General discussion
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| Group II |
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11.15 - 12.40
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Workshop 2
Organic acidurias and fatty acid oxidation disorders.
(Dr. Carlo Dionisi-Vici, Prof. Ute Spiekerkötter, moderator: Dr. Jurgita Songailienė)
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12.40 - 13.00
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General discussion
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| Group III |
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11.15 - 12.40
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Workshop 1
Inborn neurotransmitter and neurometabolic diseases
(Prof. Ron Wevers, moderator: Birutė Tumienė)
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12.40 - 13.00
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General discussion
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13.00 - 14.30
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Lunch
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| Section: Cytogenetic Testing |
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14.30 - 15.15
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Cytogenetic analysis
(Dr. Philippos Patsalis, Nicosia, Cyprus)
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15.15 - 15.25
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Discussion
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15.25 - 16.10
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From chromosomes to microarrays
(Dr. Philippos Patsalis, Nicosia, Cyprus)
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16.10 - 16.15
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Discussion
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16.15 - 16.30
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Coffee break
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16.30 - 17.15
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High resolution aCGH and CNV analysis with Sureprint G3 Microarrays
(Dr. Arnonas Finkelšteinas, Agilent)
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17.15 - 17.30
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Discussion
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17.30
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Afternoon excursions
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| Monday, 1 June 2009 |
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9.00 - 9.45
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Clinical utility of array-CGH
(Prof. Gunnar Houge, Bergen, Norway)
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9.45 - 10.00
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Discussion
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10.00 - 10.45
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Chromosome biology and epigenetics
(Prof. Gunnar Houge, Bergen, Norway)
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10.45 - 11.00
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Discussion
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11.00 - 11.15
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Coffee break
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11.15 - 12.00
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Prenatal and postnatal molecular karyotype analysis
(Dr. Philippos Patsalis, Nicosia, Cyprus)
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12.00 - 12.10
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Discussion
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12.10 - 12.55
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Genetic counseling in prenatal diagnosis
(Prof. Helena Kääriäinen, Helsinki, Finland)
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12.55 - 13.00
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Discussion
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13.00 - 14.30
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Lunch
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14.30 - 15.15
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Genetic counseling in postnatal diagnosis
(Prof. Helena Kääriäinen, Helsinki, Finland)
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| Practical courses in groups |
| Group I |
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15.15 - 16.00
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Practical training: conventional karyotyping
(Dr. Philippos Patsalis; moderator: Assoc. Prof. Algirdas Utkus)
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16.00 - 16.15
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Coffee break
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16.15 - 17.00
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Practical training: molecular chromosome analysis
(Prof. Gunnar Houge; moderator: Dr. Vytautas Šliužas)
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| Group II |
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15.15 - 16.00
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Practical training: molecular chromosome analysis
(Prof. Gunnar Houge; moderator: Dr. Vytautas Šliužas)
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16.00 - 16.15
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Coffee break
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16.15 - 17.00
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Practical training: conventional karyotyping
(Dr. Philippos Patsalis; moderator: Assoc. Prof. Algirdas Utkus)
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17.00 - 17.45
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Agilent Bioanalyzer - the most successful micro-fluidics based platform, offering solutions for analysis of DNA, RNA, protein and cells
(Dr. Arnonas Finkelšteinas, Agilent)
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| Closing |
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17.45 - 18.00
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Results, common discussion, closing remarks
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