Clinical applications of developmental biology

Question 1

What type of tests on animal models can be used to understand human disease

Answer 1

genetic screens, allelic series, epistasis, phenotype analysis

Question 2

What is pre-axial polydactyly

Answer 2

extra digit on anterior side of hand

Question 3

What is pre-axial polydactyly caused by

Answer 3

over activation of hedgehog signalling

Question 4

What mutation causes pre-axial polydactyly

Answer 4

mutation in shh enhancer element

Question 5

Describe holoprosencephaly

Answer 5

range of midline malformation

Question 6

What causes holopreosencephaly

Answer 6

dominant mutations in shh gene

Question 7

what is cyclopamine

Answer 7

inhibitor of hh signalling pathway

Question 8

what are the beneficial effects of cyclopamine

Answer 8

treat cancer caused by increased hh signalling

Question 9

What cancer can cyclopamine treat

Answer 9

basal cell carcinoma

Question 10

what causes basal cell carcinoma

Answer 10

loss of function in ptc & gain of function in smo

Question 11

What is ptc

Answer 11

tumour suppressor gene

Question 12

What is smo

Answer 12

proto-oncogene

Question 13

What are the characteristics of tumour cells

Answer 13

rapidly dividing undifferentiated cells, uncontrolled proliferation & differentiation

Question 14

Why is some cancer treatment only short lived

Answer 14

tumour cells can acquire drug resistance mutations

Question 15

When cancers are treated with similar compounds to cyclopamine why is treatment only short lived

Answer 15

smo can signal independently of hedgehog

Question 16

How can you make a stem cell

Answer 16

take skin cell from patient, add differentiation factors