CRISPR is Used to Create Personalised Pigs That Match Disease of Patients
Mason Konsitzke is a seven year old boy, who was born with an incurable inherited disease known as neurofibromatosis type 1 (NF-1).
His father, Charles first noticed one of the symptoms after his birth, after seeing little brown birthmarks on his buttocks. It was around his first birthday that a pediatrician confirmed the diagnosis, reports The Atlantic.
Although the birthmarks aren’t damaging to Mason, it turned out this was just one of many that would. He quickly began to develop learning disabilities, and other patients experience bone and heart problems.
Most commonly, patients get tumours on their skin and nerves; Mason already has one of the side of his face. The tumours do usually benign, but even so they can still cause disfiguration.
Charles isn’t a scientist by training, but he is well connected to the scientific world through his job. After receiving a diagnosis for his son, he was set on finding out more, including where the bottlenecks were, and what he could do to accelerate research into the condition.
After repeatedly hearing that the answer was to find better animals to experiment on, he was overjoyed to bump into Dhanu Shanmuganayagam at an event, who ran a facility that rears miniature pigs that are genetically engineered to carry mutations found in human genetic disorders.
To better understand NF-1, a species is required that is closer in both size and biology to a person, whilst at the same time is relatively easy to raise and study. It would seem that pigs would be the best answer to everyone’s problems.
“Pigs closely represent humans,” explained Neha Patel, who directs the UW neurofibromatosis clinic. “People with NF-1 have varied cognitive deficits, from severe learning issues to subtle problems. If you imagine studying those in a rat, you’d only get a crude picture of how that translates to humans. But pigs are intellectual animals.”
Luckily for Charles, Shanmuganayagam was keen to help give NF-1 the research boost it needed. For a disease that affects at least one in every 2,500 babies, it is very under-recognised and children are not getting the best care as a result.
In order to further research, the pair are planning to develop pigs that can model the symptoms of NF-1. They want to use the gene-editing technique known as CRISPR to create pigs that have the specific mutations of a particular individual. Each child with NF-1 would get their own personalised piglet, whose version of the NF-1 gene matched their own. The piggy proxy could be monitored to see how the child’s condition might progress, especially since they mature faster than humans do.
With the pig mirroring the particulars of a person’s condition it may help find quicker treatments, in turn stopping the child having to have a cocktail of different medication. Charles believes that this will save enough money to compensate for the costs of creating a customised pig.
Shanmuganayagam and his colleagues started actively trying to make the gene-edited pigs in 2014, with a shoestring budget of $50,000 from the Neurofibromatosis Network, which they bolstered through their own fund-raising efforts.
The team delivered their first edited animal in November 2016, which carried a set of NF-1 mutations. Since then they have engineered three more animals, each with a different cluster of mutations.
As the pair look to the future, the next step will be to create pigs that are openly personalised to specific people, and the team are currently awaiting approval for this.
However, after experiencing a number of ethical issues the team had to slow themselves down. Some of these centered around if the personalised pig starts to show symptoms, and their child counterpart doesn’t, how should that be communicated to the family? What happens if the pig dies early? Should a family even get to know which pig is theirs?
This aside, the idea stemmed from a personal experience, and I recommend keeping your eyes on what these guys do next!