SMWPoland presentation on genetic diagnostics in diabetes. Learn about rare types of diabetes, genetics, pharmacogenomics, complications, treatment and more!

1. Circulating microRNAs in
Monogenic Diabetes
Wojciech Fendler M.D., Ph.D.
Department of Pediatrics, Oncology,
Hematology and Diabetology

2. What is Monogenic Diabetes (MD)?
• >300 million people suffer from diabetes!
• ~4% have their disease caused by a single genetic
defect
• In ~50% of monogenic diabetes treatment can be
optimized with pharmacogenetics
– Switching from insulin to tablets
– Withdrawing treatment altogether

3. How to diagnose monogenic diabetes?
• Genetic testing
– Targetted sequencing – cumbersome, slow, requires a gene-of-
interest
– Targetted resequencing – faster, but requires modern machines,
expensive, requires validation
– Genome/Exome sequencing – definitive, allows finding new
causative genes, expensive, requires validation, generates too
much data for routine use

4. How to improve genetic diagnostics of MD?
• Selection of patients for testing can be done using:
– Clinical analysis
• Positive familial history
• Specific comorbidites (epilepsy, renal cysts etc.)
– Biomarkers
• C-reactive protein is a feasible candidate for one type of MD
• Posession of an efficient biomarker will allow to
prescreen patients for genetic diagnostics

5. What do we want to do?
• Perform profiling of microRNAs in the serum
– Stable, robust biomarkers
• Define microRNAs specific for particular types of
monogenic diabetes
• Establish role of microRNA in causing, aggravating
and potentially treating monogenic diabetes