Our Novel Therapy Initiatives


Take a look at the types of Research Initiatives we support.

We aim to replicate the success of Gene Therapy in these other Rare Diseases (ALD, SMA, Sickle…)

About Gene Therapy:

What is gene therapy? A definition of gene therapy is “when DNA is introduced into a patient to treat a genetic disease. The new DNA usually contains a functioning gene to correct the effects of a disease-causing mutation.” (1) Gene therapy is a technique that uses genes to treat or prevent disease. This technique may allow doctors to treat a disorder by inserting a gene into a patient’s cells instead of using drugs or surgery. Researchers are testing several approaches to gene therapy, including:

  • Replacing a mutated gene that causes disease with a healthy copy of the gene.
  • Inactivating or “knocking out,” a mutated gene that is functioning improperly.
  • Editing a gene to fix the mutation that is causing a disease.

Gene therapy is a promising treatment option for a number of diseases including inherited disorders, some types of cancer, and certain viral infections. Gene therapy is currently being tested for a wide variety of diseases. The first gene therapy treatment was approved in 2017 to treat a form hereditary blindness, opening a new era for the gene therapy arena.

(1) https://www.yourgenome.org/facts/what-is-gene-therapy

Why Gene Therapy for NF2?

There are many challenges that have prevented gene therapy from being successful at treating human disease.  Many diseases such as stroke, diabetes type 2, and heart disease are caused by many factors, both genetic and environmental, so it becomes hard to identify specific gene targets.

However, some disorders are caused by a defect in a single gene, and NF2 is one of those disorders. In this instance, it may be possible to insert a new copy of the gene into the cells where it is needed most, the nervous system.

Currently viral vectors are the safest and most widely used vector for delivering new genes. One limiting factor is the size of a gene that a vector can carry. Because of its relatively small size, compared for example to the faulty gene in muscular dystrophy, the NF2 gene is small and can be easily carried by most viral vectors.

Read more about other Gene Therapy Successes in Rare Diseases

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