Gene Therapy Offers Potential for the Treatment and Management of Rare Genetic Conditions

Genetic therapy has revolutionized medical treatment in the last decades. Today, genetic testing can help patients with many life-threatening diseases like sickle cell anemia and blood cancer. Gene therapies can work by several mechanisms. The therapy replaces a faulty gene or adds a new gene in an attempt to cure disease or improve your body's ability to fight disease.

Adrenoleukodystrophy is one such condition that can benefit from gene therapy. In July 2021, The European Commission granted marketing authorization to Bluebird Bio, a biotechnology company based in the U.S., for its gene therapy SKYSONA, which is a one-time therapy for the treatment of early cerebral adrenoleukodystrophy in patients under 18 years old without matched sibling donor.

Gene therapy is basically designed to introduce specific genetic material to developing cells to produce a useful protein or to fix a genetic abnormality. If there is some abnormality in a person's DNA, it may mean that he will get sick easily or that he may suffer from some symptom. A number of genes, called genetic imprints, are responsible for a person's physical features, such as height, eye color, hair color, and skin pigmentation. If a defective gene produces a misshapen or abnormal protein, called a disease-related mutation, then gene therapy may be able to insert a normal copy of this gene in order to restore the affected part of the cellular machinery.

Gene therapy was initially tested on animals, but today, it is used extensively on human beings. The therapy involves the use of genetic material introduced into patients so that they can fight against certain diseases. There are several different methods of gene therapy, and some of them include homologous inheritance, expression genetic engineering, chromosome manipulation, transposon insertion, transcription mediated amplification, and transcription mediated deletion. In homologous inheritance, genetic material is introduced into an individual's genetic material.

In expression genetic engineering, genetic material is introduced into an individual's cells or tissues, but no changes in the genetic material occur, allowing the cells to continue to exist as they are. Transcription mediated amplification involves a technique in which genetic material is copied from the genes of another living cell. Chromosome manipulation involves inserting genetic material that results in the insertion of a specific coding sequence within a chromosome, or insertion of spacers within a chromosome. These methods have enabled scientists to successfully treat genetic disorders in both humans and animals.