Genetic diseases result from errors in our DNA and the proteins it encodes.
Treating rare genetic diseases remains a challenge, with effective therapies available for only about 5% of these conditions.
Current approaches include protein replacement, metabolic pathway inhibition, DNA processing modification, and, in an emerging yet promising development, gene replacement itself.
Today, according to the American Society of Gene and Cell Therapy, there are approximately 30 approved gene therapies worldwide, 13 of which have been authorized by the European Medicines Agency. Half of these therapies target cancer (as cancer is a genetic disease), while the other half address rare diseases. Examples include treatments using viral vectors for transport, such as therapies for a form of Retinitis Pigmentosa (targeting the RPE65 gene), Spinal Muscular Atrophy (the well-known Zolgensma), Haemophilia A, and Haemophilia B.
There are currently around 300 clinical trials underway, with many promising developments expected in the near future.
Genetic sequencing not only underpins the research crucial for these advancements but is also essential in diagnosing and identifying candidates for these therapies.
