GENE THERAPY – 4D Molecular Therapeutics

Humans are afflicted by thousands of inherited genetic diseases, and most of these affect children. The vast majority of genetic diseases do not have safe and effective treatments available. Hundreds of thousands of people, mainly children, suffer greatly; their disease symptoms are determined by which of the bodys ~25,000 genes is defective. Some children lose their sight, others bleed frequently, and others lose the ability to simply walk or breath normally. Some of these patients tragically die at a young age. In a few diseases, children can be injected frequently (every week or two) with replacement proteins that can partially stem the tide; nevertheless, the disease progresses steadily and the childs quality of life is progressively degraded.

We need effective therapies for these kids. We need cures for these kids. This is what 4DMT fights for every day.

WHAT ARE GENES, AND WHY DOES IT MATTER WHEN THEYARE DEFECTIVE IN A GENETIC DISEASE?

Genes are blueprints for the manufacturing of proteins by cells in the body. Humans have about 25,000 genes for the same number of proteins. Each gene is important for a normal life. While every cell in the body has all of these genes, each cell only expresses (ie, turns on and makes the encoded protein) a small subset required for its specialized function in the body.

These genes are the cells software, coding for how each cell should function through the action of proteins. The proteins that genes encode for are the hardware that carry out almost every function in the body, from structures (eg, bone, cartilage) to enzymes (eg, that digest food) to messengers (eg, hormones).

When a gene is defective, either missing or mutated, the result is that the corresponding normal functional protein will not be present in the cells where it should be. Since a normal functional protein is missing, or at an insufficient level, the affected person suffers. If the gene for vision is defective, the person lacks a normal gene in their retina (tissue at the back of the eye) and they will develop progressive blindness (eg, choroideremia, retinitis pigmentosa and others). If the gene for a muscle factor is defective, the person lacks a normal muscle strength protein and they will have problems with muscle wasting and even with normal activities (eg, muscular dystrophy or lysosomal storage diseases). If the gene for a specific lung factor is defective, the person lacks a normal lung maintenance protein and they will have problems with breathing and lung infections (eg, cystic fibrosis).

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GENE THERAPY - 4D Molecular Therapeutics