The identification of the gene, named Treacle, culminated an epic 5-year search by an international group of investigators. This was a historic discovery in the sense that it was accomplished entirely through positional cloning, or following the inheritance pattern of genetic markers. There were no animal models or candidate genes to give hints of a possible location. There was no chromosomal abnormality or readily discernible mutation to help identify the gene. The investigators had to identify chromosomal markers that closely flanked the disease gene, and follow these markers in five large families.
Treacle is a gene of yet unknown function, with each family carrying their own unique mutations.