Monogenic Diabetes is rare but is an important diagnosis to make since it informs optimum treatment choice, prognostication and risk stratification to immediate family members. Traditionally, detecting monogenic diabetes requires selecting the individual with atypical diabetes (neither Type 1 or Type 2 Diabetes) before selecting the candidate gene for sequencing. More recently, sequencing technology has advanced beyond single candidate gene testing towards targeted high throughput panels, allowing simultaneous assessment of multiple candidate genes in one sample run. The focus of the physician then shifts towards understanding the diabetes phenotype pertinent to different ethnicities to select those with a high pre-test probability of monogenic diabetes for gene sequencing.
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