“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. Therapy – General
Gene therapy is a technique that uses genetic material to stop or slow the progression of disease. Typically, this is done by introducing working copies of a defective gene into specific cells in the body. Download the paper here.
Gene Therapy – GM1 Gangliosidosis
Currently, there are no curative therapies for GM1 gangliosidosis. Gene therapy offers potential as it aims to stop or slow the progression of these diseases by introducing working copies of the GLB1 gene into brain and nerve cells. The goal is to restore enzyme function and improve neurological outcomes. Download paper here.
Gene Therapy – GM2 Gangliosidoses
Gene therapy offers promise as it aims to stop or slow the progression of these diseases by introducing working copies of the HEXA and HEXB genes into brain and nerve cells. The goal is to restore enzyme function and thus reduce GM2 accumulation. Download paper here.
Gene Therapy – Canavan disease
Gene therapy is promising as it aims to stop or slow the progression of this disease by introducing working copies of the ASPA gene into brain and nerve cells. The goal is to restore enzyme function and improve neurological outcomes. Download paper here.
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. within genes. Download the paper here.
Other Therapeutic Approaches
Enzyme Replacement Therapy
Enzyme Replacement Therapy (ERT) is a treatment where the functional enzyme is infused into the body to substitute for the missing or malfunctioning enzyme. Download paper here.
SubstrateThe substance on which an enzyme acts. 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
Enzyme Enhancement Therapy (EET) / Pharmacological Chaperone Therapy (PCT) is a treatment approach that aims to rescue and improve the function of deficient enzymes in the body. Download paper here.
Small Molecule Therapy
Small Molecule Therapy is a therapeutic approach that uses small molecules, which are typically drugs that are small enough to easily enter cells, to target specific parts of the cell and possibly modify disease processes. Download paper here.
These papers are current as of December 2024 and will be updated when new information is published about Tay-Sachs, Canavan, GM1 gangliosidosis and Sandhoff diseases.
