ECTS 33rd European Symposium on Calcified Tissues. Prague, 2006: Meet the Professor

Meet the Professor

Serge Ferrari (Geneva, Switzerland)

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 ?
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...)