Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
ISSN: ISSN: 2157-7412
Stephen Greene
University of Dundee, UK
Posters & Accepted Abstracts: J Genet Syndr Gene Ther
There is a worldwide increase in diabetes in the young with nearly half a million children having diabetes with an annual increase of 3%. However, within this rise is the uncovering of rare forms of diabetes (secondary and monogenic), with a mixture of underlying pathophysiology, differing management strategies and divergent clinical outcome. While compromising only ~5% of the diabetes population they often require major changes in therapy and monitoring with significant implications for the family. Molecular genetics has led to the identification of genes associated with clinically identified subgroups of diabetes. Monogenic diabetes includes neonatal diabetes(mutations in the KCNJ11, ABCC8 or INS genes) and MODY (maturity onset diabetes of the young� mutations in HNF1A gene or the GCK gene), with over 40 mutations now having been identified causing diabetes in the immediate neonatal period, early childhood, adolescence and adulthood, with a clinical presentation of diverse symptomatology, from low birth weight, development delay, congenital abnormalities, severe diabetic ketoacidosis and simple asymptomatic hyperglycemia detected on biochemical screening. Molecular genetic testing is now being used as a diagnostic tool that can help define the diagnosis and treatment of children with diabetes. The International Society for Pediatric and Adolescent Diabetes (ISPAD) has played a significant role in uncovering the diversity of non-Type 1 diabetes through a major international program of a �Rare Diabetes Registry� and is a central clearing house for all enquiries from ISPAD members about rare diabetes. Information from the Registry has informed the ISPAD Consensus Guidelines that outlines the approach to diagnosis and management of these rare diabetes conditions.
Email: s.a.greene@dundee.ac.uk