There is vast accumulating evidence that the conditions present during early life, including the prenatal period, have lifelong consequences for the development and health status of an individual. Thus, early diagnosis and early treatment of impending abnormal neurological development in children may lead to a dramatic improvement of their quality of life and an increase in the number of their healthy years into adulthood, perhaps even into old age. Children with Phelan-McDermid syndrome illustrate this guiding principle. This syndrome is caused by a deletion of the SHANK3 gene and is characterized by severe behavioral and developmental problems. Studies that started in 2012, focusing on the underlying function and deletion of the gene involved, have identified a protein that interferes with the intracerebral insulin receptor, suggesting a positive effect of intranasallydministered insulin on the behavior and development ofthese patients, thus improving their long-term outcome.
Another example of research that aligns with the Healthy Ageing theme is the study of the effect of diet in (PKU) patients. Understanding the underlying causes for the differences in treatment necessity and age-related treatment effectiveness between PKU patients may result in more personalized lifestyle advice and thus better long-term well-being.
In summary, the primary strategic step to meet the above objectives was to position ANNDI’s research goals in line with the Healthy Ageing theme. In addition, ANDDI benefits from its networks – multidisciplinary teams that are well embedded in UMCG structures with researchers who have already been very successful on their own. Finally, the opportunity to improve and personalize diagnostics and treatment, including new treatment modalities for a group of extremely vulnerable young patients, contributes to the societal acceptance and validation of the research. The latter, i.e., the social relevance of our research, puts our program in a good strategic position in terms of funding and in terms of the continuity of our research.