Rare diseases, in particular inborn errors of metabolism (IEM), are critical paradigms or models of brain dysfunction. In fact, over the last decade, the field of IEM has become one of the most important areas of innovation in mechanisms of disease in children’s brains. Although these are rare diseases, they repent models of brain dysfunction associated with aberrant neurochemistry. Some examples are severe epilepsy, mental retardation, autism, cerebral palsy, Rett syndrome (RTT). Pediatric neurological conditions such as ADHD (increased from 7.8% in 2003 to 11% in 2011 in US) and brain tumors (the most common cancer type in children in US) are increasing day by day. It is very important to identify the conditions early on to make sure that neurodegeneration is minimum.

Our imaging tools aim to connect neurological diseases and common neuropediatric conditions, and help researchers advance their research on rare and prevalent conditions in children. Researchers can run full-connectomics pipeline to detect connectivity abnormalities. For disorders such as ADHD, full-morphometry analysis can be used to see the differences in developing brains in terms of volume and thickness.

We are currently working with Hospital Sant Joan de Deu for a special project to support their research on rare neuropediatric diseases. We are also part of the Connecting the Growing Brain initiative that aims to connect pediatric neuroscientists conducting research on rare and common neuropediatric diseases.