“Understanding Therapeutic Approaches” is a series of resources to help our community understand the biological basis of the current therapeutic approaches being explored for Tay-Sachs, Canavan, GM1, and Sandhoff diseases.
Note: Papers will be uploaded as they are reviewed and approved by members of our scientific advisory council.
Gene Therapy
GeneOften referred to as the "unit of heredity." A gene is composed of a sequence of DNA required to produce a functional protein. More Therapy – General
Gene Therapy – GM1 Gangliosidosis
Gene Therapy – GM2 Gangliosidoses
Gene Therapy – Canavan disease
Gene Editing (CRISPR-Cas9)
Gene editing is a type of gene therapy that involves changing genetic material to stop or slow the progression of disease. Gene editing can insert, remove, modify, or replace DNAThe chemical sequence found in genes, and which allows for the transmission of inherited information from generation to generation. More within genes. Download the paper here.
Other Therapeutic Approaches
Enzyme Replacement Therapy
SubstrateThe substance on which an enzyme acts. More Reduction Therapy
SRT is a treatment approach that uses drugs to reduce the production of substrates that the enzymesAccording to Genome.gov, an enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction and is used over and over. More act upon because these enzymes are not functioning properly. Downland paper here.
Enzyme Enhancement Therapy / Pharmacological Chaperone Therapy
Small Molecule Therapy
These papers are current as of August 2024 and will be updated when new information is published about Tay-Sachs, Canavan, GM1 gangliosidosis and Sandhoff diseases.
