The potential of gene replacement therapy for genetic diseases

As advancements are being made in medicine, gene replacement therapy is changing the way researchers see genetic diseases. Government institutions like the US Food and Drug Administration (FDA) and advocacy groups like Global Genes are also looking at the possibilities that gene replacement therapy holds for many disorders. In fact, as gene replacement therapies are approved for genetic disorders, the advancements benefit all of those in the community now and further down the road.

The potential of gene replacement therapy for genetic diseases

As advancements are being made in medicine, gene replacement therapy is changing the way researchers see genetic diseases. Government institutions like the US Food and Drug Administration (FDA) and advocacy groups like Global Genes are also looking at the possibilities that gene replacement therapy holds for many disorders. In fact, as gene replacement therapies are approved for genetic disorders, the advancements benefit all of those in the community now and further down the road.

For people affected by monogenic diseases, gene replacement therapy has the potential to help them in the future. Monogenic diseases are caused by one missing or faulty gene or gene pair. Gene replacement therapy targets the underlying cause of the disease and delivers a new, working gene to potentially stop disease progression.

Manufacturing companies like Vertex Pharmaceuticals, AveXis, Sarepta Therapeutics, and Spark Therapeutics are currently researching and developing gene replacement therapies for monogenic diseases. Some of the monogenic diseases that may be an option now, or in the future, for gene replacement therapy include:

CFTR Gene

Cystic fibrosis (CF)

CF is a genetic disease caused by mutations in the CFTR gene. The CFTR gene provides instructions for the body to make a protein that is important for the regulation of chloride ions in cells, which is needed for the production of normal, free-flowing mucus. When this gene is not working properly, cells that line the insides of the lungs, pancreas, and other organs make thick and sticky mucus. As a result, people with CF experience breathing problems and damage to airways, increased risk of lung infections, and digestive problems.

DMD Gene

Duchenne muscular dystrophy (DMD)

DMD is a genetic condition and is 1 of 9 types of muscular dystrophy. It is caused by mutations in the DMD gene and almost only affects males. The DMD gene provides the body with instructions for making a protein called dystrophin, which is important to muscle cells. As a result, boys with DMD experience muscle weakness that appears in early childhood and quickly worsens. Boys with DMD may have delayed motor skills, often depend on a wheelchair by teenage years, and may experience heart complications.

One of a number of genes

Genetic amyotrophic lateral sclerosis (ALS)

ALS is a rare disease that affects the nerve cells that control voluntary muscle movement. In most people, the cause of ALS is unknown. However, in some cases, ALS is genetic. Genetic ALS is caused by a single faulty gene. There are many different genes that, when they have an error, have been shown to cause ALS. Regardless of the genetic cause, over time muscles lose their strength, and the disease can become life threatening.

F8 and F9 Genes

Hemophilia

Hemophilia is a genetic bleeding disease that mostly affects males. There are two major types, hemophilia A and hemophilia B. Hemophilia A is caused by changes in the F8 gene while hemophilia B is caused by changes in the F9 gene. These genes are responsible for making important proteins that are needed for blood to clot properly after an injury. People with hemophilia may experience continuous bleeding after an injury or even spontaneously without an injury. Bleeding in the joints, muscles, brain, or internal organs can be especially dangerous.

MECP2 Gene

Rett syndrome (RTT)

RTT is a genetic disease that occurs mainly in girls and affects how the brain works and develops. It is caused by a mutation in a single gene called the MECP2 gene. Girls with Rett syndrome may sometimes appear to develop normally from the time they’re born up to about 18 months. After that, they quickly lose mental and physical abilities, and over time, they may lose the ability to speak, walk, and move.

SMN1 Gene

Spinal muscular atrophy (SMA)

SMA is a genetic condition that affects nerves and muscles. It is caused by a missing or faulty SMN1 gene. The SMN1 gene is responsible for producing a protein that motor neuron cells need so they can tell the muscles what to do. When the SMN1 gene is faulty or missing, these motor neuron cells stop working and die. Over time, muscles can become so weak that walking, eating, and even breathing become difficult. This serious muscle weakness, especially in the muscles used to breathe, can be life threatening.


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