personalised medicine

Question 1

What are Biomarkers?

Answer 1

Biological characteristics that can be measured, often used as indicators of disease or response to treatment.

Question 2

What types of biomarkers exist?

Answer 2

• Molecular
• Anatomical
• Physiological
• Biochemical

Question 3

Give an example of a molecular biomarker.

Answer 3

Proteins, DNA, RNA

Question 4

What does an anatomical biomarker indicate?

Answer 4

Alterations in the brain detected by MRI.

Question 5

What is an example of a physiological biomarker?

Answer 5

Blood pressure.

Question 6

What does a biochemical biomarker measure?

Answer 6

Enzyme activity.

Question 7

What is the focus of current research?

Answer 7

To find appropriate biomarkers

Question 8

What technologies are included in current studies?

Answer 8

Several different technologies, including microArray, sequencing, and imaging.

Question 9

What types of omics are being used in current research?

Answer 9

Various omics: proteome, transcriptome, metabolome, and microbiome.

Question 10

What is required for future research?

Answer 10

Development of new tests that are robust and standardised.

Question 11

What is necessary for development

Answer 11

Samples for large scale analysis

Access to Biobanks of samples

Permission from patients to access medical records

Samples must be stored, processed, and have detailed records

Question 12

What is depression?

Answer 12

Depression (major depressive disorder) is a common and serious medical illness that negatively affects how you feel, the way you think and how you act.

American Psychiatric Association

Question 13

cons of current therapies

Answer 13

drug resistance, side effects, availability

Question 14

3 inflammatory diseases

Answer 14

rheumatoid arthritis, psoriasis and crohn’s disease

Question 15

What could a significant association between a genotype at one SNP and disease indicate?

Answer 15

1. The SNP is associated with the disease.
2. The SNP is associated with another factor which is associated with disease.

Question 16

What are some factors that may be genetically associated?

Answer 16

1. Ethnic ancestry.
2. Genotyping batch, genotyping centre.
3. DNA quality.

Question 17

What role do environmental exposures play in genetic associations?

Answer 17

They may be in the same causal pathway.

Question 18

Provide an example of a causal pathway involving nicotine receptors.

Answer 18

Nicotine receptors -> smoking -> lung cancer.

Hung et al, Nature 452: 633 (2008) + other articles in same issue.

Question 19

Provide an example of a causal pathway involving alcohol dehydrogenase genes.

Answer 19

Alcohol dehydrogenase genes -> alcohol consumption -> throat cancer.

Hashibe et al, Nature Genetics 40: 707 (2008).

Question 20

warfarin blood clotting

Answer 20

catalyses conversion of fluid blood to a solid fibrin gel/clot