Genetic Etiology of Type 1 Diabetes

Hand and PipetteThe current method of disease detection occurs only at onset.   Typically, a patient presenting typical symptoms of weight loss, lethargy, excessive thirst, and excess urination will be admitted and tested for the presence of autoantibodies or will be given a glucose tolerance test to confirm disease.  At this stage of disease, > 80% of the β-cells have already been destroyed and currently, no methods are available to stop the damage. 

Methods are available, although not used in a clinical setting, to “screen” at risk patients for the presence of autoantibodies and genetic predispositions.  Unfortunately, these methods are not comprehensive when trying to predict onset due to the variability of disease development in patients who test positive for the screens.   Some patients may test positive for the screen and never develop disease while some may have minor predispositions but develop diabetes early on.

Geneticists at UNMC hope to establish projects that will study the genetics underlying type 1 diabetes.   By learning more about which genes or mutations are responsible for disease manifestation, they hope to develop advanced DNA diagnostic tests and create new, non-invasive screening methods for the disorder in family members that will be better able to predict disease onset.   By applying this as part of a preventative therapeutic strategy, patients may have greater outcomes from the therapies we currently use and those we are working on (described below), to alter the autoimmune response and restore β-cell function.