About This Chapter
Genetic and Congenital Diseases: Common Types and Treatments - Chapter Summary
Begin your exploration of this topic with lessons that explain some of the unique problems associated with the study of human genetics. The instructors go on to describe how scientists work around these problems by using pedigrees - family histories that can help identify autosomal and sex-linked inheritance patterns.
You can also learn how geneticists study the expressivity and penetrance of genetic disorders causing disease - such as Tay-Sachs disease, hemophilia and Huntington's disease - and study their symptoms. This chapter concludes with an explanation of how all of this family history relates to our health, both in the early stages of development and as we age. The topics of discussion include:
- Human genetics research methods
- Pedigree analysis and inheritance patterns
- Causes and symptoms of various genetic disorders
- Genetics, family history and chronic conditions
- Prevention methods for congenital disease
Whether you find visual or text-based instructional materials more to your liking, this chapter on genetic and congenital diseases features both options. The lesson content is delivered via short, illustrated video lessons as well as written transcripts. This instruction is supplemented by brief self-assessment quizzes that allow you to test your understanding of important concepts and main ideas.
1. Human Genetics Research Methods: Pedigrees and Population Genetics
Have you ever wondered how people study human genetics? Do you know what a pedigree or a complex disease is? In this lesson you'll learn about some of the techniques that human geneticists use and what pedigrees and complex diseases have to do with human genetics.
2. Pedigree Analysis in Human Genetics: Tutorial
One of the oldest genetic techniques is pedigree analysis, and yet it is still used every day all around the world by doctors, geneticists, and genetic counselors. Building and reading a pedigree is actually fairly easy if you know what the symbols mean. In fact, it's so easy that you can learn how to do it in less than ten minutes if you watch this video!
3. Pedigree Analysis in Human Genetics: Inheritance Patterns
So you've learned what a pedigree is and how to read or even create one. Now you're ready to learn how to analyze a pedigree and figure out what kind of inheritance pattern a genetic condition follows!
4. Genetic Disorders: Penetrance & Phenotypic Variability
Did you know that sometimes a dominant human genetic condition will skip a generation in a family? It does happen, and some dominant genetic conditions will also have a wide range of phenotypes, sometimes even within the same family. Learn more in this lesson about phenotypic variability!
5. What Is Tay-Sachs Disease? - Symptoms and Genetic Cause
Tay-Sachs is a devastating genetic disorder that is seen in infants starting when they are only three to six months old. Children who suffer from this disease usually die by the age of four. Learn more about the symptoms and genetic causes of this autosomal recessive disorder.
6. Haplosufficient Genes and Inheritance Patterns of Lethal Alleles
Have you ever wondered why some genetic conditions are recessive while others are dominant? In this lesson, you'll learn about haplosufficiency and how it can sometimes determine whether a genetic condition is dominant or recessive.
7. What Is Hemophilia? - Symptoms, Genetic Cause & Treatment
In this lesson, you'll learn about a group of hereditary bleeding disorders collectively known as hemophilia. You'll learn why afflicted people don't form blood clots and why most hemophiliacs are males.
8. What Is Huntington's Disease? - Symptoms, Genetic Cause & Treatment
In this lesson, you'll learn about a neurodegenerative disorder called Huntington's disease. You'll learn what a CAG repeat is, and how the number of these repeats can be used to predict whether or not a person will get Huntington's disease.
9. How Family History and Genetics Affect Health and Chronic Conditions
In this lesson, we will look at the influence that genetics has on us in terms of chronic, and sometimes lethal, diseases or conditions. We look briefly at how many individuals are born with predispositions to various conditions.
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