Gene Therapy for Rare Disease; Promising Therapy Used To Treat a Variety of Rare Diseases

Gene therapy is particularly relevant to rare disease patients, as more than 80% of rare diseases have a known monogenic (single-gene) cause. Traditional small molecule drugs often work by minimizing symptoms rather than curing the disease. Gene therapy holds promise for treating a wide range of diseases, such as cancer, cystic fibrosis, heart disease, diabetes, hemophilia and AIDS. Gene therapy is a logical way to treat rare genetic diseases; cure a single gene defect by introducing a 'correct' gene.

There may be as many as 7,000 rare diseases. Around 400 million people around the world are living with a rare disease, of which more than 25 million in the United States and 30 million are in Europe. A rare disease is defined as a condition that affects fewer than 200,000 people in the U.S. Gene Therapy for Rare Disease include genetic diseases, rare cancers, degenerative diseases, auto-immune diseases, inherited malformations, metabolic conditions, infectious tropical diseases, among others. Gene therapy holds promise for treating a wide range of rare diseases.

Gene Therapy for Rare Disease involves inserting genetic material into patients' cells to provide new functions or to restore missing or inappropriate functioning of cells due to cancer or gene mutations. Over 80% of rare diseases are genetic in origin and hence disproportionately impact children. Gene therapy is relevant to rare diseases and has improved the wellbeing and personal satisfaction of more seasoned kids and grown-ups with X-linked severe combined immunodeficiency (SCID), an inherited disorder of the immune system that occurs almost exclusively in males.

Individuals with X SCID are prone to persistent and recurrent infections because they lack the immune cells necessary to fight off certain fungi, bacteria, and viruses. In short, gene therapies are promising therapies used to treat a broad range of rare diseases; their aim is to treat the causes of the disease rather than just relieving the symptoms of the disease. These therapies can also be effective for a wide range of previously untreated diseases.