Jocelyn Laporte a genetist of the Institute of Genetics and Molecular Cellular Biology in Strasbourg,France , discover a family with three children whose born normaly but in a time the fraternal twins grew progresely and rapidly ill. The twins die and the third child get ill too at the same age.
The problem was a gene mutation in a gene called BIN1 wich help to give form to the muscle for respond to nervious signals that starts the muscular contraction.
They try to investigate the gene in lab rats but they failed so the try with other animal, a dog.
Laports lab team use a genetist and a veterinary to find dogs who have the disease spontaneusly and a similar condition.The dogs have more lifespawn so they can use progressive therapies and investigate more so they could find the solution.
The team prove that gene sequencing confirmed that the animals bore an analogous DNA mutation to the one seen in humans, which removes a large chunk of the BIN1 gene, known as exon 11. The finding of dogs with a similar defect that developed similar symptoms was key to confirming that the BIN1 is, indeed, the culprit in the human disease.