15. Genomes and Genomics
Genomics and Human Medicine
- Open QuestionWhen the S. cerevisiae genome was sequenced and surveyed for possible genes, only about 40% of those genes had been previously identified in forward genetic screens. This left about 60% of predicted genes with no known function, leading some to dub the genes fun (function unknown) genes.You wish to know the physical location of the encoded protein product. How will you obtain such information?
- Open QuestionWhen the S. cerevisiae genome was sequenced and surveyed for possible genes, only about 40% of those genes had been previously identified in forward genetic screens. This left about 60% of predicted genes with no known function, leading some to dub the genes fun (function unknown) genes.As an approach to understanding the function of a certain fun gene, you wish to create a loss-of-function allele. How will you accomplish this?
- Open QuestionSelect 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 frequency of the condition in newborn infants (note any populations in which the condition is more frequent)
- Open Question
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 anticipated outcome if treatment is applied - Open Question
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 duration of treatment - Open Question
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 recommended treatment for those with the condition - Open Question
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 - Open Question
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 - Open QuestionHow has the use of model organisms advanced our knowledge of the genes that control human diseases?
- Open Question
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?
- Open Question
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?
- Open Question
Describe the significance of the Genome 10K project.
- Open Question
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? - Open Question
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? - Open Question
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?