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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 ...
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 ...
This is the introductory lecture of the 2011 edition of the ESGM annual Medical Genetics Course
The course deals with the role of mitochondria in cancer development and progression. Bioenergetics of cancer, mitochondrial genetics and mitochondria-related signalling pathways are discussed in detail, as well as mitochondria-related aspects of cancer research such as aging, bioinformatics and mit ...
This is the closuring lecture of the course in Mitochondrial Metabolism and Cancer on how bioenergetics has helped progress in cell biology and human pathology, milestone discoveries regarding mitochondrial research are presented.
Cancer is a heterogeneous and complex genetic disease that drives the progressive transformation of normal cells into malignancy by a multistep ordered process. However, and in addition to the contribution of genetic mutations in the well established cancer genes (oncogenes and tumour suppressors), ...
In this course, we discuss the concept of variable metabolic remodeling and signaling in tumors, specifically the modifications in the main biochemical energy pathways observed in cultured cancer cells and excised tumors, as well as the concentration changes in various (onco)metabolites that partici ...
Complex cellular functions are often determined by the dynamic interactions occurring in networks of hundreds or thousands gene products that generate system-level properties largely unpredictable considering only the behaviour of individual nodes of the network. The phenotype of “in vitro” grow ...
Both succinate dehydrogenase (SDH) and fumarate hydratase (FH) are TCA cycle enzymes that convert succinate to fumarate and fumarate to malate, respectively. SDH is also a functional member (complex II) of the Electron Transport Chain (ETC). Surprisingly, although SDH and FH are „housekeeping gene ...
Reactive oxygen species (ROS), as generated by mitochondria during respiration, induce oxidative stress, which accumulates over life and is considered the proximal mechanism of aging and a major determinant of degenerative disease, including cancer, and lifespan (the free radical or mitochondrial th ...
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