MADISON, Wisconsin – Like a lot of girls, nine-year old Lauren Geier loves playing with her dolls.
"She is the most motherly figure you will ever meet. she babies these things like they're real kids," said her dad, Ryan Geier.
But unlike most kids, Lauren has a rare form of Neurofibromatosis Type One, or NF-1.
There is a microdeletion: a chunk of her chromosome is missing.
"Her diagnosis is more like one in 80,000," said Ryan. "There's no blueprint. There's no way to understand fully what's going to happen."
Most people will have some level of behavior or learning disabilities and are prone to getting nerve and brain tumors.
But NF-1 is complex and different from person to person.
"The biggest hurdle in this research area has been is that there was no real way to study the disease because there aren't enough children with the same mutation," explained Dhanansayan Shanmuganayagam, Director of Biomedical & Genomic Research Group at the University of Wisconsin-Madison.
But now, researchers are using genetically engineered pigs to study the disease.
Using the gene-editing tool CRISPR, the researchers genetically alter the embryo of a pig and then impregnate a female pig with the embryo.
"We're trying to create a pig that sort of represents a particular child, and therefore, we can really customize the treatment or the therapy," explained Shanmuganayagam.
"We decided to genetically engineer them to have the mutation that would be found in a child. Then we could study the disease in the pig. And then we could try to discover new drugs or therapies using the pig as the model. We're hoping that it will allow us to find either a cure or a therapy." - Dhanansayan Shanmuganayagam
The first set of piglets were born in November 2016. There were eight in total and four of the piglets carried the NF-1 mutation.
That was a win for the Geier family.
"When we heard there would be a possibility of creating essentially a twin pig that has this microdeletion, it gave us hope," recalled Lyndsay Geier, Lauren's mother.
It's not an exact science when it comes to treatment.
When symptoms do present itself with NF-1, people need to be their own guinea pig to find a treatment that works. That of course can be frustrating and takes a lot of time.