Course | Medical Genetics is a week-long postgraduate level course addressed to both researchers and clinicians seeking an up-to-date overview of the field of medical genetics today.
It provides an overall view of the clinical developments which are taking place in the major application fields of modern genetics in different medical specialties.
The topics covered in the present edition are: Introduction to Medical Genetics, Cytogenetics and Clinical Genetics, Model System and Technology, Therapy and Ethical Issues, Neurogenetics and Complex Genetic Disorders, New Approaches in Medical Genetics, Genetics of Mental Retardation. |
Speakers | W. Chen (Berlin, Germany), H.Dietz (Baltimore, USA), D. Donnai (Manchester, UK), E.Eichler (Seattle, USA), J. Flint (Oxford, UK), T. Frebourg (Rouen, France), J. Gecz (Adelaide, Australia), H. Kazazian (Philadelphia, USA), J. Lupski (Houston, USA), E. Maestrini (Bologna, Italy), R. Ramesar (Cape Town, South Africa), A. Read (Manchester, UK), L. Roberts (Cape Town, South Africa), P. Robinson (Berlin, Germany), M. Speicher (Graz, Austria), N. Tommerup (Copenhagen, Denmark), D. Valle (Baltimore, USA), V.van Heyningen (Edinburgh, UK), G.J. van Ommen (Leiden, The Netherlands). |
Programme |
SATURDAY, April 25th – Arrival at the University Residential Centre in Bertinoro
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Sunday, April 26th – Introduction to Medical Genetics
Morning Session: 8:30 – 13:00
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8:30 – 9:00
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G. Romeo
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Commemoration of V.A. McKusick and overview of the course
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9:00 – 9:45
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D. Donnai
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Medical Genetics today
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9:45-10:30
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A. Read
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Process of disease gene discovery-monogenic disorders
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10:30 – 11:00
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Coffee Break
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11:00 – 11:45
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H. Dietz
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Marfan disease as paradigm for the transition from medical genetics to genetic medicine
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11:45 – 12:30
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H. Brunner
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Genotypes and Phenotypes
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12:30 – 13:00
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Questions from students on morning lectures
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13:00
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Lunch Break
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Afternoon Session: 14:30 – 18:00
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A. Read
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Evaluating the possible effect of a DNA sequence change
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H. Brunner
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How to make a clinical diagnosis
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Coffee break
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H. Brunner
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Patterns of Mutation
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R. Ramesar
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Delivery of Medical Genetics Services in emerging countries versus developed countries.
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Monday, April 27th – Cytogenetics and Clinical Genetics
Morning Session: 8:30 – 13:00
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8:30 – 9:30
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M. Speicher
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Cytogenetic Techniques
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9:30 – 10:15
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H. Brunner
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Chromosomal syndromes
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10:15 – 10:45
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Coffee break
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10:45 – 11:30
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D. Donnai
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Genetic counseling
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11:00 – 12:15
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T. Frebourg
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Inherited forms of cancer: from molecular basis to clinical management
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12:15 – 13:00
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Questions from students on morning lectures
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13:00
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Lunch Break
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Aftenoon Session: 14:30 – 18:00
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D. Donnai
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Dismorphology Practical- signs and symptoms suggesting diagnoses
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H. Dietz
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Transitioning to an Independent Academic Career
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Coffee break
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M. Speicher
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Cytogenetic technologies
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T. Frebourg
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Tuesday, April 28th – Model Systems and Technology
Morning Session: 8:30 – 13:00
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08:30 –09:30
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V. van Heyningen
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Making eyes: development and disease in organs of extreme perfection
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09:30 – 10:15
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J. Flint
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Mouse models for neuropsychiatric disorders
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10:15 – 10:45
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Coffee break
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10:45 – 11:30
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H. Kazazian
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The Thalassemia Model
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11:30 – 12:15
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W. Chen
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Massive Sequencing
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12:15 – 13:00
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Questions from students on morning lectures
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13:00
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Lunch Break
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Afternoon Session: 14:30 – 18:00
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V. Van Heyningen
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Mechanisms of gene function modulation
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J. Flint
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Genetic Mapping Using IN-Bred Mice
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Coffee break
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W. Chen
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Introducing to next-generation sequencing technology
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J. Flint
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Genetic Mapping Using Out-Bred Mice
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Wednesday, April 29th – Therapy and Ethical Issues
Morning Session: 8:30 – 13:00
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08:30 – 9:30
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G.J. van Ommen
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Duchenne Muscular Dystrophy
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09:30 – 10:15
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B. Wirth
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Spinal Muscular Atrophy: from Gene to Therapy
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10:15 – 10:45
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Coffee break
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10:45 – 11:30
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J. Lupski
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Genomic Disorders: Studying copy number variation (CNV) to understand human development and disease
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11:30 – 12:15
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G.J. van Ommen
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Ethical and societal aspects of genomics
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12:15 – 13:00
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Questions from students on morning lectures
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13:00
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Lunch Break
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Sightseeing tour
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Thursday, April 30th – Neurogenetics and Complex Genetic Disorders
Morning Session: 8:30 – 13:00
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08:30 – 9:30
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E. Maestrini
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Complex Traits
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09:30 – 10:15
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N. Tommerup
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Mendelian cytogenetics: balanced chromosomal rearrangements as a tool for identification of disease genes
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10:15 – 10:45
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Coffee Break
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10:45 – 11:30
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J. Gecz
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ARX Spectrum Disorders
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11:30 – 12:15
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D. Valle
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Schizophrenia
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12:15 – 13:00
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Questions from students on morning lectures
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13:00
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Lunch Break
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Aftenoon Session: 14:30 – 18:00
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N. Tommerup
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T.b.d.
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D. Valle
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t.b.d.
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Coffee Break
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Concurrent workshops
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J. Gecz
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Gene Hunting: Finding the optimal strategy for disease gene identification.
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J. Lupski
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Clinical implementation of high-resolution human genome analysis
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Friday, May 1st – New Approaches in Medical Genetics disorders
Morning Session: 8:30 – 13:00
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08:30 – 09:30
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E. Eichler
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Genome Structural Variation and Human Disease
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09:30 – 10:15
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V. van Heyningen
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Long Distance Gene Regulation
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10:15 – 10:45
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Coffee break
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10:45 – 11:30
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H. Kazazian
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Biology of Mammalian Mobile DNA
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11:30 – 12:15
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J. Lupski
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Diagnosis, clinical management and molecular mechanisms for peripheral neuropathies
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12:15 – 13:00
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Questions from students on morning lectures
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13:00
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Lunch
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Aftenoon Session: 14:30 – 18:00
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J. Lupski
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Clinical implementation of high-resolution human genome analysis
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V. van Heyningen
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T.b.d.
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Coffee break
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J. Lupski
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Prenatal and postnatal array CGH
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P. Robinson
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Gene Ontology
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Saturday, May 2nd – Genetics of Mental Retardation
Morning Session: 8:30 – 13:00
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08:30 – 9:30
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N. Tommerup
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Genetic dissection of comorbidity in brain disorders
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09:30 – 10:15
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J. Gecz
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Capitalising on genomics to understand the genetics and biology of (primarily X-Linked) learning disability
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10:15 – 10:45
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Coffee break
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10:45 – 11:30
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E. Eichler
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CNV in evolution and disease
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11:30 – 12:15
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P. Robinson
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Gene Ontology
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12:15 – 13:00
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Questions from students on morning lectures
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13:00
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Lunch break
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Departure
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