Gene therapy is a type of medical treatment that uses genes to prevent or treat diseases. Here are some conditions and illnesses that benefit from gene therapy:
1. **Severe Combined Immunodeficiency (SCID)**: A genetic disorder that significantly impairs the immune system. Scientists have used gene therapy to rectify the genetic mutation causing SCID, allowing patients to resist infections.
2. **Leber Congenital Amaurosis (LCA)**: A genetic disorder that causes severe visual impairment. Gene therapy has been used to treat LCA by repairing the mutations that cause the condition, restoring vision in some patients.
3. **Spinal Muscular Atrophy (SMA)**: A genetic disorder that causes muscle weakness and atrophy. Gene therapy has been used to treat SMA by introducing a healthy copy of the SMN1 gene, which helps achieve the production of the SMN protein.
4. **Sickle Cell Disease**: A genetic disorder that affects hemoglobin production, causing anemia, pain crises, and other complications. Gene therapy has been tested as a treatment for sickle cell disease, with the aim of producing healthy hemoglobin without the sickle cell mutation.
5. **Glycogen Storage Diseases (GSDs)**: A group of genetic disorders that impair glycogen metabolism, leading to accumulation of glycogen in the body. Gene therapy has been used to treat GSDs, such as GSD type I, by introducing a functional gene that helps break down glycogen.
6. **Cystic Fibrosis**: A genetic disorder that affects the respiratory, digestive, and reproductive systems. Gene therapy has been tested as a treatment for cystic fibrosis, with the aim of producing healthy versions of the CFTR protein.
7. **Huntington's Disease**: A genetic disorder that causes progressive damage to the brain. Gene therapy has been tested as a treatment for Huntington's disease, with the aim of reducing the production of the toxic huntingtin protein.
8. **Muscular Dystrophies**: A group of genetic disorders that cause progressive muscle weakness and degeneration. Gene therapy has been used to treat muscular dystrophies, such as Duchenne muscular dystrophy (DMD), by introducing a healthy copy of the dystrophin gene.
9. **Adenosine Deaminase (ADA) Deficiency**: A genetic disorder that impairs the immune system, leading to an increased risk of infections. Gene therapy has been used to treat ADA deficiency by introducing a functional copy of the ADA gene.
10. **Hemophilia A and B**: Genetic disorders that impair the production of blood clotting factors, leading to bleeding complications. Gene therapy has been tested as a treatment for hemophilia A and B, with the aim of producing healthy versions of the clotting factors.
Approved gene therapy medications:
1. **Zolgensma (onasemnogene abeparvovec)**: An adeno-associated virus gene therapy used to treat spinal muscular atrophy (SMA).
2. **Luxturna (voretigene neparvovec)**: A vitally corrected gene therapy used to treat Leber congenital amaurosis type 10.
3. **Vecsigrade (abegrafimev)**: A choroideremia treating AVR adeno-associated virus vector-based therapy.
4. **Kekule**: A treatment for Leiden hemophli A syndrome, recently approved.
Experimental gene therapy treatments include:
1. **Galztion**: Treatment for severe immunodeficiency (combined immunodeficiency disorder) caused by immunodeficiency-causing HIV induced via gene therapy.
2. **Gene therapy**: Research has proven that mutations affecting the base of the eye (such as Leber congenital ammaurosis which might see the early light for patient's retinal gene therapy.