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HMB 441H1 Genetics of Human Disease

This advanced HMB 441H1 Genetics of Human Disease course aims to provide students with current in-depth knowledge of the genetics of specific human diseases, including single genes (such as Huntington's disease), multifactorial (such as Alzheimer's), and non-Mendelian (such as diseases associated with mitochondrial DNA. Diseases and uses of genetics to elucidate the mechanisms of disease can lead to treatment and personalized medicine to improve health care.

With the increasing ability of developed countries to control infectious and nutritional diseases, people have realized that genetic diseases are a major cause of disability, death and human tragedy. Families without any known genetic disease are rare. Thousands of different genetic diseases with clear clinical symptoms have been identified. Among the 3-6% of newborns who have confirmed birth defects, at least half is mainly caused by genetic factors. In addition, genetic defects are the main known cause of miscarriage in developed countries, and nearly half of spontaneous abortions (abortions) occur in fetuses with chromosomal abnormalities. In developed countries, approximately 30% of postpartum infant mortality is attributable to genetic diseases; 30% of hospitalizations of children and 10% of hospitalizations of adults can be attributed to genetic causes. Finally, medical researchers estimate that at least 10% of adults have genetic defects, even the smallest. Therefore, such events are not uncommon.

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