MADISON, Wisconsin – Imagine doctors telling you that your child not only has a genetic disorder, but one that has no effective way to test for therapies or even predict how the disorder may progress.
Now researchers at the University of Wisconsin, Madison believe they have found a way to get children and their families the help they need.
Lauren Geier, 9, has a rare form of neurofibromatosis type one, or NF1, in which there is a microdeletion, or a chunk of her chromosome missing.
"Her diagnosis is more like one in 80,000. There's no blueprint. There's no way to understand fully what's going to happen," said Ryan Geier, Lauren's father.
Most people will have some level of behavior or learning disabilities and are prone to getting nerve and brain tumors. But NF1 is complex and different from person to person.
"The biggest hurdle in this research area has been that there was no real way to study the disease, because there aren't enough children with the same mutation," said Dhanansayan
Shanmuganayagam, director of Biomedical and Genomic Research Group at the University of Wisconsin, Madison.
Researchers are now 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," Shanmuganayagam said.
The first set of piglets were born in November 2016. Four of the eight piglets carried the NF1 mutation, which 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," said Lindsay Geier, Lauren's mother.
In addition to hope, it also gives a little more insight into the NF1 disorder.
When symptoms do present with NF1, people are their own guinea pig to find a treatment that works, which can be time consuming.
People also have to endure side effects of the treatments that do not work. Having a pig mirror a person's specific form of NF1 can narrow down the best treatments faster.
