ESGM 2011 Medical Genetics Course

Submitted: Tuesday 6th of September 2011 09:43:32 AM
Submitted by: egf
Language: English
Educational levels: expert, qc1, qc2, qc3

Abstract

This is the 24th edition of the European School of Genetic Medicine annual course in Medical Genetics. Info on the 2012 edition can be found on www.eurogene.org

Resources

This is the introductory lecture of the 2011 edition of the ESGM annual Medical Genetics Course
During the last years, it has become clear that copy number variations (CNVs) are much more prevalent than previously thought. This insight was made possible by the development of arrays to scan the human genome. In this session the general principles of genome wide CNV detection by will be explai ...
Genetic counselling is defined as the process that provides patients and family members with information about the natural history, cause, and inheritance of genetic diseases. Individuals or families may consult medical geneticists because they suffer from or are at risk for a genetic disease. The g ...
There is considerable variation between the genetic code of two individuals, both at the single nucleotide and at the structural level. Identifying and studying the consequences of these variations, a core activity in human genetics research, is driven by technological innovations. Currently we are ...
The recent study of different connective tissue diseases and their homologous mouse models have dramatically altered our understanding of their pathogenesis. A major breakthrough was realized with the study of mouse model of Marfan syndrome (MFS). The study of emphysema development in a fibrillin-1 ...
Recent studies have indicated that humans have an exceptionally high per-generation mutation rate of 7.6 x 10-9 to 2.2 x 10-8. These spontaneous germline mutations can have serious phenotypic consequences when affecting functionally relevant bases in the genome. In fact, their occurrence may explain ...
Craniofacial malformations affecting head and face are a primary cause of infant mortality and can result in severe functional, aesthetical, and social consequences for affected individuals and their families. Anomalies include ossification defects of facial and cranial bones, jaw deformities, malfo ...
People tend to see genetics as raising uniquely sensitive ethical issues. Whether that view is right or wrong, it does mean that as working geneticists we have to be specially sensitive to the ethical implications of our work. Although we all subscribe to general principles of ethical conduct, somet ...
A lecture on Oligogenic Disorders, given by Prof. Nico Katsanis during the 2011 ESGM Medical Genetics Course

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