Gene Therapy Offers Hope for People with Rare Genetic Diseases, Changing the Landscape of Healthcare

Year after year, individuals grappling with genetic diseases, abnormalities, and hereditary conditions have faced challenges that ranged from unproductivity and stigma to severe pain and untimely death. The impact of genetic diseases is global, with an estimated 70 to 80 million people affected worldwide, according to the World Health Organization. Going beyond these numbers, Nature Portfolio, an international scientific publishing company, reported that rare genetic diseases impact over 300 million individuals across the globe.

In the past, many of these conditions went undiagnosed and untreated, leaving sufferers to cope without effective medical interventions. However, the convergence of technology, artificial intelligence, and healthcare is revolutionizing the approach to these ailments.

Recent advancements in healthcare technologies and the integration of Artificial Intelligence (AI) into the diagnosis and treatment of health issues are heralding a new era for those affected by life-threatening genetic disorders. Among these breakthroughs, genetic engineering is gaining prominence, offering the possibility of restoring health and providing a renewed lease on life to those with debilitating conditions.

One significant breakthrough has been in the realm of genetic-induced blindness, where gene therapy has offered the prospect of sight recovery. Genetic engineering, as defined by the National Human Genome Research Institute, involves altering the DNA composition of an organism through laboratory-based techniques. The genetic information encoded in DNA governs the hereditary traits passed down from generation to generation.

Diseases that stem from genetic abnormalities are hereditary and can be inherited through familial lines. Gene therapy, a prominent form of genetic engineering, has been harnessed to restore health. This innovative approach involves modifying the genes within an individual’s body cells to treat or halt diseases. In essence, gene therapy seeks to replace malfunctioning cells with healthy ones.

The process of gene therapy might entail various manipulations of genes, such as deleting sections of DNA, altering base pairs, or introducing new genes from one species into another to achieve desired outcomes. While genetic engineering has been used extensively in fields like research and agriculture (genetically modified organisms), its application in biomedicine is a novel and promising frontier.

A notable case in July involved a 14-year-old named Antonio Carvajal, who was born with dystrophic epidermolysis bullosa—a rare genetic disorder causing blisters on his skin and in his eyes. Through gene therapy, his eyesight and skin condition were restored, offering him newfound visual clarity and relief from his pain.

The treatment, known as Vyjuvek, utilized an inactivated herpes simplex virus to deliver functional copies of a gene responsible for producing collagen 7—a protein that maintains skin and corneal integrity. By targeting the underlying genetic cause, gene therapy can rectify debilitating conditions.

Dr. Alfonso Sabater, Carvajal’s physician, noted that gene therapy provided a solution to the genetic root of the disorder, gradually restoring normalcy. The treatment process involved the removal of scales from the eye surface and the application of gene therapy once a month. Gene therapy has also been used to address other eye conditions, such as Retinitis pigmentosa and age-related macular degeneration.

Despite these promising advancements, experts caution that gene therapy is still in its experimental stage and its usage is limited to specific eye diseases with a genetic basis. Other emerging technologies, like anti-vascular endothelial growth factor injections, are also showing promise in treating conditions like diabetic retinopathy and sickle cell retinopathy.

As research and innovation in the field of genetic therapy continue to progress, there is optimism that these groundbreaking approaches will bring relief and renewed hope to individuals who have long suffered the effects of genetic diseases. While challenges remain, the potential to reverse or alleviate genetic abnormalities using cutting-edge therapies has opened new doors for the future of healthcare.