The most studied is neurturin’s role in neurodegenerative disease like Parkinsons disease and Huntingtons, where several rat studies have implicated neurturin’s role in rescuing neurons. However, these results have never been observed in humans. Hirschsprung disease, a autosomal dominant genetic disorder, is characterized by complete absence of neuronal ganglion cells from the intestinal tract.  Previous studies indicate a role of NRTN gene mutations in the disease. One study showed evidence that a mutation in the NRTN gene was not enough alone to cause onset of the disease, however when coupled with a mutation in the RET gene, disease was present in family members as well as the individual. A more recent study showed NRTN variants present in individuals with Hirschsprung disease. However, RET associated mutations were not found and in one variant, RET phosphorylation levels were reduced, which has the potential to have downstream effects on the proliferation and differentiation of neuronal crests. Also, high levels of expression of neurturin were found to be associated with nephroblastoma indicating the possible that the growth factor could be influencing differentiation. Lastly, a study also associated neurturin deficiency in mice with keratoconjunctivitis and dry eye.