In this study, we characterized the functional receptors of GDNF and studied the biology of these neurotrophic signaling molecules in development. These and previous findings led us to the mutation analysis of GDNF and p75NTR genes as candidates for different diseases, but no disease causing mutations were found. However, we found several genetic alterations some of which could be studied further.

Our study is a part of ongoing change in genetics applied to medicine. In general, as the genetics of sporadic or multigenic diseases even more complex than Hirschsprung’s disease are being studied, we need to understand the genotype-phenotype correlation better. To get to that point we need to understand the developmental function of genes and gather all the genetic information little by little in different multigenic diseases, by using the candidate gene or allelic association approach. This work will become easier with new and faster techniques such as DNA chip technology and will probably reveal rules how to interpret the consequences of a detected mutation in multigenic or sporadic diseases.