If you have a disease known as Pyrin Associated Autoinflammation with Neurtrophilic Dermatosis (PAAND), you’re in luck! Your tongue isn’t, though, because that’s a TWISTER!
Fun fact: It’s caused by the same gene suspected of causing Familial Mediterranean Fever.
No one used to know about PAAND, let alone how it was caused. But patients with it could experience any symptom from lesions on the skin, to pain, to fatigue, to high fever.
Thanks to Dr. Seth Masters at Walter and Eliza Hall Institute, we now understand what leads to PAAND.
You can find the research that led to the discovery in the journal, Science Translational Medicine. The published article talks about a gene known as MEFV. In the bodies of people with PAAND, the MEFV gene mutation need only be inherited once by a child for the child to have the disease. In people with Familial Mediterranean Fever, a child must inherit the mutated gene from BOTH parents. So, there’s your difference.
If a person has the mutated gene that leads to PAAND, the body will go on the defensive as if it’s fighting an infection, hence why “autoinflammation” is in the name.
This may not seem like big news, but this is just a first step.
Now knowing the cause, researchers and scientists can begin developing therapies to treat PAAND—maybe even cure it? In fact, treatments have already begun breaking through the surface! And they’re helping!
Masters aims to continue his research on rare diseases and understand the causes of those that are rarely talked about.
Let’s hear it for the master who is Masters! See what I did there?
