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Pesquisa
3rd Course on Intellectual Disability: from Clinic to Gene and back
Local: Braga, Portugal
Dia: 1 de Julho de 2013 a 5 de Julho de 2013
Organização: Escola de Ciencias da Saude da Universidade do Minho.
Temática: Intellectual disability: contribution of genetics for diagnosis and therapeutics.
Resumo:
Programa:
July 1 – Intellectual disability and Genetics Distribution of course materials Journal Club: Distribution of papers Morning
• Introduction to the clinical aspects of ID - Raoul C. Hennekam
• Contribution of neuroradiology for the diagnosis of neurodevelopmental disorders - Carla Conceição Lunch with Poster Session Afternoon
• Introduction to Genetics - Patricia Maciel e Mafalda Barbosa
• Hands-on introduction to online databases - Patricia Maciel e Mafalda Barbosa
July 2 - Malformation syndromes Morning
• Overview - Bronwyn Kerr
• Introduction to aCGH technology - Patricia Maciel
• Microarrays in the clinical practice - Bronwyn Kerr Lunch with Poster Session Afternoon
• Fragile X - Jean-Louis Mandel
• Ciliopathies - Nicholas Katsanis,
• Journal Club July 3 - ID in association with neurological or neuromuscular disorders Morning
• Overview - Teresa Temudo
• Genetic basis of cortical dysgenesis - Jamel Chelly Lunch with Poster Session Afternoon
• Rett syndrome - Teresa Temudo
• Neurodevelopmental disorders and the multi-hit model - Dalila Pinto
• Genetic studies of sporadic non-syndromic ID - Jacques Michaud
• Journal Club July 4 – Metabolic disorders Morning
• Overview - Fernando Scaglia
• New Therapies: Enzyme Replacement Therapy for Lysosomal Storage Diseases - Fernando Scaglia Afternoon
• Rehabilitation in ID patients - Susana Almeida
• Journal Club July 5 - Use of new technologies in ID genetic diagnosis and research: Morning
• Introduction to Next-generation sequencing technology - Jose Luis Costa
• NGS for diagnostic purposes - Jean-Louis Mandel
• Whole exome sequencing in the identification of novel ID genes - Vera Kalscheuer
• Epigenetics in ID - Hans van Bokhoven Afternoon
• Use of mice in the study of ID pathogenesis - Mara Dierssen
• Use of invertebrate models in the study of ID pathogenesis - Ana João Rodrigues
• Use of iPSCs in the study of ID pathogenesis - Ilaria Meloni
• Closure
Comunic. Livres: Não
Secretariado: sec-pg@ecsaude.uminho.pt
Site de Internet: http://www.ecsaude.uminho.pt/Default.aspx?tabid=8&pageid=918&lang=pt-PT
Temática: Intellectual disability: contribution of genetics for diagnosis and therapeutics.
Resumo:
The aim of this course is to provide a structured review and update on the genetic basis of intellectual disability (ID). ID is a prominent feature in a large and heterogeneous set of hereditary conditions. In recent years, many genes have been identified as the cause of these disorders, leading to new possibilities of diagnosis and to a redefinition of their clinical classification: many entities previously thought to be distinct can now be grouped together, since they were found to be associated to mutations in the same gene. On the other hand, the discovery of the genes subsiding classical genetic syndromes has led to the acknowledgement of their true and widened clinical spectrum. These genetic findings also provide very relevant information concerning the biological basis of normal intellectual function, and open new perspectives for research and treatment in the neurobiology of rare mental disorders. Given the recent scientific developments in the field of the genetic disorders of intelligence, and the fast accumulation of novel information that is occurring in this area of knowledge, we believe this is a timely to training course, directed to all types of health professionals dealing with ID patients and families, aiming to provide a state-of-the-art overview of (i) the nosology of clinical conditions associated with ID, (ii) the current diagnostic possibilities and (iii) the recent concepts concerning the pathogenesis and treatment of these disorders. On a practical perspective, the course also aims to make the students familiar with a set of information seeking/managing tools that can provide some support in the complex task of managing a patient with an inherited disorder with ID. Target audience We aim to attract an international audience, with a maximum of 50 participants, including: Pediatricians Pediatric Neurologists Pediatric Psychiatrists Medical Geneticists Psychologists Family doctors Graduate students in Neurosciences and in Genetics Format and idiom Five-day lecture course, with active learning and discussion periods such as journal club and poster presentation sessions. The course idiom will be English.
Programa:
July 1 – Intellectual disability and Genetics Distribution of course materials Journal Club: Distribution of papers Morning
• Introduction to the clinical aspects of ID - Raoul C. Hennekam
• Contribution of neuroradiology for the diagnosis of neurodevelopmental disorders - Carla Conceição Lunch with Poster Session Afternoon
• Introduction to Genetics - Patricia Maciel e Mafalda Barbosa
• Hands-on introduction to online databases - Patricia Maciel e Mafalda Barbosa
July 2 - Malformation syndromes Morning
• Overview - Bronwyn Kerr
• Introduction to aCGH technology - Patricia Maciel
• Microarrays in the clinical practice - Bronwyn Kerr Lunch with Poster Session Afternoon
• Fragile X - Jean-Louis Mandel
• Ciliopathies - Nicholas Katsanis,
• Journal Club July 3 - ID in association with neurological or neuromuscular disorders Morning
• Overview - Teresa Temudo
• Genetic basis of cortical dysgenesis - Jamel Chelly Lunch with Poster Session Afternoon
• Rett syndrome - Teresa Temudo
• Neurodevelopmental disorders and the multi-hit model - Dalila Pinto
• Genetic studies of sporadic non-syndromic ID - Jacques Michaud
• Journal Club July 4 – Metabolic disorders Morning
• Overview - Fernando Scaglia
• New Therapies: Enzyme Replacement Therapy for Lysosomal Storage Diseases - Fernando Scaglia Afternoon
• Rehabilitation in ID patients - Susana Almeida
• Journal Club July 5 - Use of new technologies in ID genetic diagnosis and research: Morning
• Introduction to Next-generation sequencing technology - Jose Luis Costa
• NGS for diagnostic purposes - Jean-Louis Mandel
• Whole exome sequencing in the identification of novel ID genes - Vera Kalscheuer
• Epigenetics in ID - Hans van Bokhoven Afternoon
• Use of mice in the study of ID pathogenesis - Mara Dierssen
• Use of invertebrate models in the study of ID pathogenesis - Ana João Rodrigues
• Use of iPSCs in the study of ID pathogenesis - Ilaria Meloni
• Closure
Comunic. Livres: Não
Secretariado: sec-pg@ecsaude.uminho.pt
Site de Internet: http://www.ecsaude.uminho.pt/Default.aspx?tabid=8&pageid=918&lang=pt-PT
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