1.1 Rare Disease

Question 1

What is prevalence?

Answer 1

Proportion of a population with a condition at a specific time.

Question 2

Incidence:

Answer 2

Rate of new cases of a condition within a population over a defined period.

Question 3

What is the typical prevalence of a rare disease?

Answer 3

Less than 50 cases per 100,000 individuals.

Question 4

critical enzymes that don’t work correctly are the cause of all diseases. What are enzymes?

Answer 4

Proteins that speed up chemical reactions in living organisms.

Question 5

What are mutations?

Answer 5

Alterations of the DNA base sequence that can alter the function or the expression of a gene.

Question 6

What are somatic cells?

Answer 6

cells that are not germ cells.

Question 7

neuronal reflexes

Answer 7

automatic rapid response to stimulus.

Question 8

spinal muscular atrophy (SMA)

Answer 8

a mutation in a gene (survival motor neuron 1 (SMN1) ) encoding a protein

Question 9

Homozygote:

Answer 9

Two matching genes, expressing the same trait.

Question 10

Allele:

Answer 10

An alternate form of a gene, influencing the expression of a particular trait.

Question 11

Recessive

Answer 11

Refers to a gene allele whose phenotype is not manifest in a heterozygote if it is masked by the presence of a dominant allele