Goals & Learning Objectives
Apply basic principles of molecular biology, gene expression, and
Mendelian genetics to analysis of a recent primary literature article in
human genetics
Mendelian genetics to analysis of a recent primary literature article in
human genetics
Interpret experiments from the primary literature
Synthesize the results of individual experiments to draw appropriate
conclusions
conclusions
Effectively communicate scientific questions, hypotheses, results, and
conclusions
conclusions
Assess and evaluate the ability of other students to effectively
communicate scientific questions, hypotheses, results, and conclusions
communicate scientific questions, hypotheses, results, and conclusions
What to include in presentations
Requirements:
1) Background on disease – disease course, prevalence, inheritance pattern, one
gene/many genes, penetrance/expressivity
2) What was known previously about the molecular and genetic basis of this
disease?
3) How was disease gene isolated? What type of
genetic/molecular/association/sequence-based technique was used?
4) What are the characteristics of the protein encoded by the disease gene?
What are the important protein domains? What is known about the
molecular/biochemical function of the protein?
5) Where do the mutations map in the disease gene? Do the mutations make
sense with the mode of inheritance?
6) Do the mutations in the disease gene explain why patients get the disease?
7) Does this information offer a potential treatment for the disease?
8) What are the “next steps”? What experiments need to be done to extend
knowledge of this disease?
Requirements:
1) Background on disease – disease course, prevalence, inheritance pattern, one
gene/many genes, penetrance/expressivity
2) What was known previously about the molecular and genetic basis of this
disease?
3) How was disease gene isolated? What type of
genetic/molecular/association/sequence-based technique was used?
4) What are the characteristics of the protein encoded by the disease gene?
What are the important protein domains? What is known about the
molecular/biochemical function of the protein?
5) Where do the mutations map in the disease gene? Do the mutations make
sense with the mode of inheritance?
6) Do the mutations in the disease gene explain why patients get the disease?
7) Does this information offer a potential treatment for the disease?
8) What are the “next steps”? What experiments need to be done to extend
knowledge of this disease?
What to include in presentations
Presentation must include:
Presentation must include:
1 figure from the paper that contains information about how the gene was
isolated.
1 figure from the paper that contains information about the mutations/gene
product/function.
Supplemental figures count as a figure from the paper
What you don’t have to include
Presentations do not have to show all figures from the paper.
Presentations do not have to show all figures from the paper. You don’t have to understand 100% of the content of the paper