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Meet the Professor
Genetics of osteoporosis
Thursday 11 May 2006
13.00-14.00
Topics to be covered
- When to search for gene mutations vs variations in osteoporosis
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- Recent discoveries of pathogenic mutations causing bone fragility
with high or low bone mass
- Strength and weaknesses of familial
structures for the assessment of bone mass heritability and QTLs
- Replication
studies and meta-analyses of osteoporosis candidate genes
Educational goals:
- To provide the clinical bases for the assessment of congenital
bone fragility disorders vs idiopathic osteoporosis
- To present the implications of recently discovered gene mutations
in the alterations of bone mass and bone quality
- To summarize the design
and power of studies that established the heritability and identified
QTLs for bone mass in humans
- To review evidence for the association
of selected gene polymorphisms with bone mass, osteoporosis and/or
fracture risk
Teaching methods
- Case scenarios in which the audience will have to define the clinical
approach in the search of congenital vs idiopathic osteoporosis
- Presentation
of bone fragility disorders that the audience will have to match
with a list of mutated genes
- Presentation of various family-based study
designs that the audience will classify for their ability to establish
heritability and QTLs
for bone mass
- Presentation of a list of osteoporosis candidate
genes and interactive discussion on the bases for evidence of association
with bone mass and
fractures (i.e.
presence or absence of replication studies, meta-analysis, functional
relevance of alleles, etc...)
Scientific Programme
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