PUBHLTH 290B Lecture Notes - Lecture 13: Spina Bifida, Mendelian Inheritance, Isotretinoin
6 Mar 2017
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Document Summary
Chapter 12: genetic diseases and other inborn errors. Accutane, thalidomide, hormones: alcohol, cocaine and heroin. Genetic diseases: chromosomal abnormalities e. g. , down syndrome, mendelian genetics. X-linked: new mutations may cause genetic diseases, severity of some genetic conditions may be affected by environment. Folic acid supplements can reduce risk: genes influence susceptibility to adulthood diseases, mental disorders are believed to be genetic. Pku and hypothyroidism: states vary in conditions screened for, most conditions are autosomal recessive, early diagnosis can prevent or reduce permanent damage, some conditions are complicated to test for: E. g. , cystic fibrosis: cdc recommends screening for profound hearing loss. Carrier screening: screen for recessive genes in high-risk populations, tay-sachs disease in jews. Screening encouraged by jewish leaders: sickle cell disease in african americans. Screening program in 1970s was misunderstood and poorly conducted. Prenatal diagnosis: only remedy may be abortion, down syndrome, anencephaly and spina bifida. Genomic medicine: human genome project, many potential benefits, many ethical dilemmas, cancer genes.
