Cat Lutz, PhD, Vice President of the Rare Disease Translational Center at The Jackson Laboratory, discusses how Jackson Laboratory uses mice in testing for human disease.

My name is Cat Lutz. I’m the vice president of the Rare Disease Translational Center at The Jackson Laboratory. The Jackson Laboratory is a nonprofit research institution. We’re primarily working in genetics and use mouse models as our primary model organism system. We do a lot of genetic engineering in mice, and we use mouse models to inform us about genes, and diseases, and pathophysiology that we see in the patient population and try to work with the mouse model to better understand human diseases.

We work in a wide variety. We have mouse models for complex diseases like diabetes and Alzheimer’s and Parkinson’s disease, metabolic disorders, obesity. I think for every condition or every trait, there’s probably a mouse model that we have here at JAX, and people working on it to help better inform that line of investigation. My group primarily works on monogenetic traits and rare diseases. These are usually single gene mutations that affect a small number of individuals.

Some of them are inherited. Some of these are de novo mutations that occur in the patient population. But there is a huge unmet need when it comes to research and work in rare diseases. I think primarily it’s because we’re just gaining a better understanding of what the causative genes are for some of these diseases because of having sequence information from the patients.

Before, we didn’t necessarily have a lot of information on what was causative in certain patients. But now, as that data sort of unfolds and presents itself to us, we can understand that certain patients are presenting clinically in a certain way because of mutation. Then we can sort of think about different patients and pathways and genes and start to tie all these things together. The data is really coming to us quite rapidly. So, there’s a lot to do.

When you look at the statistics of rare diseases, the affected population is primarily pediatrics. That’s a lot of what we see in the patient population. They’re children who just don’t necessarily meet their developmental milestones, are delayed in certain ways or present at birth, or shortly after birth with deficits that are recognized by the parents. A lot of these are neuromuscular and neurological, mostly because that’s what presents the most.

Babies that don’t necessarily have the right muscle strength or are not walking when they should or not talking when they should or who have seizures is another component that we see quite a lot in neurodevelopmental and neurodegenerative diseases. I am a neuroscientist by training, and so that sort of fits in with my background. That is primarily, as I said, the patient population that we see. It’s not the only patient population, but it’s an overwhelming majority. As you can imagine, these parents are highly motivated with small infants and small children to try to understand exactly what’s happening in their family.

To learn more about the JAX Rare Disease Translation Center: https://www.jax.org/research-and-faculty/research-centers/rare-disease-translational-center

To learn more about Neurological Diseases: https://checkrare.com/diseases/neurology-nervous-system-diseases/