Identifying and treating monogenic diabetes

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Satellite Identifying and treating monogenic diabetes
Speakers Professor Maggie Shepherd, Honorary Clinical Professor, University of Exeter Medical School
Satellite Description

This talk will provide an update on monogenic diabetes ,  highlighting how to identify possible cases and the impact of a genetic diagnosis.

Genes causing both maturity onset diabetes of the young (MODY) and neonatal diabetes will be discussed. MODY is frequently misdiagnosed as Type 1 or Type 2 diabetes and the majority of patients are consequently inappropriately treated. Knowledge of the key features of MODY can aid identification of patients who may have monogenic diabetes.  Simple and inexpensive steps which can be taken to aid differential diagnosis, including use of biomarkers (c-peptide and islet autoantibodies) will be discussed.

This talk also uses case studies to highlight the specific characteristics associated with different types of monogenic diabetes which can easily be recognised, ensuring the appropriate tests are recommended, enabling accurate diagnosis and most appropriate treatment. Use of non-genetic tests in aiding diagnosis and the impact of the correct diagnosis, confirmed by molecular genetic testing, is illustrated in each case. Ensuing treatment changes, implications for other family members and the emotional impact of a ‘new genetic diagnosis’ and the consequence of stopping insulin injections, even after many years on this treatment, are discussed.

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