Applied to the study of the human genome, a goal of GWAS is to locate chromosome regions that are likely to contain genes influencing the risk of disease. Specific genes can be identified in these regions, and particular mutant alleles that increase disease risk can be sequenced. To date, the identification of alleles that increase disease risk has occasionally led to a new therapeutic strategy, but more often the identification of disease alleles is the only outcome.
What is the value of being able to identify alleles that increase disease risk for a person who is currently free of the disease but who is at risk of developing the disease due to its presence in the family?

Explain differences between whole-genome sequencing (WGS) and whole-exome sequencing (WES), and describe advantages and disadvantages of each approach for identifying disease-causing mutations in a genome. Which approach was used for the Human Genome Project?

Mitochondrial replacement therapy (MRT) offers a potential solution for women with mtDNA-based diseases to have healthy children. Based on what you know about the importance of nuclear gene products to mitochondrial functions, will MRT ensure that children will not inherit or develop a mtDNA-based diseases?

Describe the significance of the Genome 10K project.

Applied to the study of the human genome, a goal of GWAS is to locate chromosome regions that are likely to contain genes influencing the risk of disease. Specific genes can be identified in these regions, and particular mutant alleles that increase disease risk can be sequenced. To date, the identification of alleles that increase disease risk has occasionally led to a new therapeutic strategy, but more often the identification of disease alleles is the only outcome.

What personal or ethical issues arising from GWAS might be of concern to physicians or to those who might carry an allele that increases disease risk?

Applied to the study of the human genome, a goal of GWAS is to locate chromosome regions that are likely to contain genes influencing the risk of disease. Specific genes can be identified in these regions, and particular mutant alleles that increase disease risk can be sequenced. To date, the identification of alleles that increase disease risk has occasionally led to a new therapeutic strategy, but more often the identification of disease alleles is the only outcome.

From a physician's point of view, what is the value of being able to identify alleles that increase the risk of a particular disease?

What is the difference between a knockout animal and a transgenic animal?

One complication of making a transgenic animal is that the transgene may integrate at random into the coding region, or the regulatory region, of an endogenous gene. What might be the consequences of such random integrations? How might this complicate genetic analysis of the transgene?

A number of mouse models for human cystic fibrosis (CF) exist. Each of these mouse strains is transgenic and bears a different specific CFTR gene mutation. The mutations are the same as those seen in several varieties of human CF. These transgenic CF mice are being used to study the range of different phenotypes that characterize CF in humans. They are also used as models to test potential CF drugs. Unfortunately, most transgenic mouse CF strains do not show one of the most characteristic symptoms of human CF, that of lung congestion. Can you think of a reason why mouse CF strains do not display this symptom of human CF?