Lecture 8

Question 1

osteoarthritis : what is the underlying problem ?(metabolic wise)

Answer 1

desequilibrium between anabolism and catabolism (more catabolism)

Question 2

why are metabolic pathways important in regenerative medicine ?

Answer 2

1) energy prodcution for cellular activities
2) Metabolic pathways influence the maintenance of pluripotency and the ability of stem cells to differentiate into specialized cell types
3) Cell Proliferation and Tissue Growth (provide building blocks)

Question 3

what is omics ? 5 types

Answer 3

Studies everything that is present in a sample -> understand a condition at 360 degrees

genomics, epigenomics, transcriptomics, proetomics, metabolomics

Question 4

why is the study of a single gene mutation limited ? why do genes do ?

Answer 4

because not all pathologies are associated to a single mutation (called mendelian)
-> multifactorial pathologies

Genes interact with each other

Question 5

difference between genetics and genomics

Answer 5

genetics : study of function of single genes, heredity

genomics
: study of complete genome (coding and non coding genes)

Question 6

GWAS : purpose, 3 variations identified, size of population ? very important last step ?

Answer 6

Genome wide association studies:
- identification of genes associated with the disease
- insertions, deletions, SNP
- very big population (more than 1000) -> higher statistical power
- always validate

Question 7

what is an SNP ?

Answer 7

single nucleotide polymorphism.

a variation at a single position in a DNA sequence among individuals within a population. It represents a change in a single nucleotide at a specific position in the genome.

Question 8

what is very important about the info found after these studies ?

Answer 8

information needs to be shared worldwide -> collaboration

Question 9

how can GWAS be used in daily practice ?

Answer 9

point of care and drug discovery for personalized medicine (test drug efficacy)

Question 10

what is epigenetics ?

Answer 10

Modify gene expression without modifying the genome by changing the accessibility to a gene : methylation (= silencing a gene), histone modification

Question 11

so what does epigenomics study ? how to validate a study ?

Answer 11

effect of environment on phenotypical outcome, at different levels.

PCR, sequencing, mass spectrometry

Question 12

what is transcriptomics ?

Answer 12

study of the transcriptome, a term meaning the complete set of RNA molecules (= transcripts) expressed in an entity