Science & Technology

Technology Platforms

Science that’s powered by passion

We are leveraging our innovative technology platforms to develop treatments for human genetic diseases by specifically targeting mutated proteins. The scientists researching these methods are dedicated to finding enhanced treatments for patients suffering from these rare diseases. Their passion fuels progress and enables us to deliver meaningful benefits. We are proud to take this bold approach towards these developments, showcasing robust biotechnology to offer healing beyond disease.

Protein Misfolding

Lysosomal Storage Disorders result from mutations in specific lysosomal enzymes, proteins that function in the lysosomal compartment to degrade molecules (substrates) into smaller pieces that can be used to build new molecules. Mutations in a patient’s own (endogenous) lysosomal enzyme may lead to a decrease in the protein’s stability, and even misfolding or unfolding of the enzyme. Unstable, unfolded, or misfolded lysosomal enzymes are generally not efficiently transported to their intended destination in the cell (ie., the lysosome) to degrade substrate. This complete or partial loss of protein function and enzymatic activity may lead to several problems, including:

  • Substrate accumulation;
  • Disruption of cellular function; and
  • Cell death.

Pharmacological Chaperone Technology

We are developing a pharmacological chaperone technology to treat LSDs that are characterized by mutated proteins that are unstable, unfolded, or misfolded. Pharmacological chaperones are small molecules designed to selectively bind to a target enzyme to potentially increase its stability and help keep it folded in the correct three-dimensional shape. For LSDs, pharmacological chaperones are designed to bind to, and facilitate trafficking of, both endogenous and exogenous enzymes to the location in cells where they are needed, i.e., the lysosomes.

CHART™ Technology

We are leveraging our proprietary CHART™ technology to develop chaperone/ERT combinations that may benefit patients with LSDs. In each CHART™ program, a unique pharmacological chaperone is designed to bind to a specific therapeutic (exogenous) enzyme, stabilizing the enzyme in its properly folded and active form.