Lafora Disease Science Terms 101

We’ve just published the helpful PDF filled with Lafora Disease Science Terms that you can download for your own use or to share.

Our community benefits from a number of dedicated research champions who work alongside our families to find a cure for this devastating disease. There is a lot that we can learn about Lafora disease from our scientists. As you read their scientific publications and listen to their presentations, please refer to the Science Terms 101 publication for terms that will help you understand their research.

Lafora Bodies

For example:

Glycogen: When our bodies have extra sugar (glucose), they store it in the form of glycogen, which is made up of a bunch of sugars linked together. Our bodies use sugars to make fuel for our cells (the way that gasoline or electricity fuel a car). When your body needs energy quickly, it can remove the sugar from this storage device and use it for fuel.

Protein-Coding Gene: A piece of DNA that contains instructions for synthesizing a protein. Patients with Lafora Disease have mutations in one of two genes:
1. EPM2A: the gene with instructions for making the protein laforin.
2. EPM2B (also called NHLRC1): the gene with instructions for making the protein malin.

Besides glycogen and proteins, Lafora Disease Science Terms 101 includes definitions for biomarkers, knock-in and knock-out mouse models, and more! Get your copy today.

Thank you to Chelsea’s Hope Science Director Dr. Kit Donohue, for defining the terms.