Thermodynamics for rare diseases

A good share of all the mutations associated with human diseases cause mild protein destabilization. Drugs known as "pharmacological chaperones" can stabilize these mutants and rescue their activity. Given a gene, some mutations respond, others do not. Usually compounds that can stabilize mutants, stabilize the wild type protein too. We apply this approach to Fabry disease, Pompe disease and to PMM2-CDG, a disorder of glysosilation with no cure at present.