Clinical Bioinfromatics Flashcards
1
Q
what is bioinformatics
A
how to get the information you need from a source you trust
2
Q
what is a rare disease
A
must affect less than 1 in 2000 people or there are more than 7000 people
7% of the pop are affected by a rare disease
3
Q
what is cockayne syndrome
A
autosomal recessive inheritance premature ageing degenerative disorder large jawline deaf in both ears ataxia survival rate low until 10 years
4
Q
what are the 3 topic that one might ask about genetics diseases
A
prognosis - how will it affect, profession and shortened life?
management - is there a cure, treatments, how do we help
causation - rarity, other family members, testing
5
Q
what is sibs.org.uk
A
support for siblings of disabled people
6
Q
what is OMIM for support
A
online mendelian inheritance in man
7
Q
what are 4 online clinical review resources
A
genereview
google it
orphanet
GARD (genetic and rare diseases information)
