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?

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information:

The symptoms and consequences of the condition if it is not treated.

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information:

The defect that characterizes the condition.

How has the use of model organisms advanced our knowledge of the genes that control human diseases?

Consider ethical issues associated with creating a synthetic human genome. Are there specific applications for a synthetic human genome that you support? Is creating a synthetic genome enhanced with genes for certain kinds of traits one of those applications?

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.

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?