Rare Disease

Gene Therapy and Rare Disease: Recent Development and Access for Indian Patients

  • February 15, 2023
  • 3 mins read

Gene therapy specifically is a technique of using normal functioning genes for treating a genetic disease either by repairing or replacing or regulating the faulty gene. Gene therapy is categorized into somatic cell gene therapy and germline gene therapy.

For individuals living with rare genetic disorders; several of which can be debilitating or life-threatening; the need for innovative treatments is absolutely vital. Only 5% of the 7,000 known rare diseases have an authorized/approved treatment, making individuals with rare diseases collectively one of the most underserved communities in medicine today. Ultimately, the capacity to realize the full potential of gene therapy for treating rare genetic diseases/disorders simply depends on listening to and addressing the needs of patients.

The Collective Global Impact of Rare Disease:

Estimated 80% of rare diseases, defined in the US as those that affect fewer than 200,000 individuals and in the EU as diseases that affect no more than 1 in 2,000 individuals, are because of genetic mutations. Approximately half of all rare diseases typically affect infants and children and can lead to serious illness and early or untimely death. While each genetic disorder/disease may emerge in a tiny population of patients, collectively rare disorders/diseases affect nearly 400 million individuals universally and are a significant cause of loss of health, life, and economic potential. Certain treatment options that have existed usually have focused on disease signs/symptoms, without rectifying the root/basic cause of the disease.

The symptoms and health impact of rare genetic disorders vary, but most of them are responsible for a loss or alteration of a protein that is required for cells and organs to work normally. Human genes are encoded in the deoxyribonucleic acid (DNA) of chromosomes, which lies within the nucleus of the cell and contain the commands to create all the proteins that human bodies need to be healthy. DNA is transcribed into ribonucleic acid (RNA), which leaves the nucleus and delivers these indications to the ribosomes (protein-making machinery) outside the nucleus.

Genetic disorders occur from inherited or spontaneous changes in the mutations (DNA code). These changes can be responsible for the loss of function or gain in the toxic function of a protein and subsequent alteration of cell function. Genetic drugs that restore functional patterns of protein expression typically hold appreciable promise in order to treat rare diseases.

Gene Therapy- An Evolution of Recent Therapeutic Development:

Gene therapy represents the next step in the evolution of therapeutic development, which started with chemical molecules to treat symptoms (aspirin to treat pain) and then advanced to biological therapies (which could include antibodies and proteins) that modify disease (enzyme replacement therapy to treat some inborn defects of metabolism, such as Gaucher disease). Now, gene therapy offers the potential to address the underlying biology of rare genetic disorders, which could scale down the ongoing need for treatment, thus reducing the treatment burden for patients and decreasing health system demands. It may also enhance the quality of life for caregivers, mainly parents, who today face notable emotional, physical/financial challenges.

Indian Scenarios:

Unlike other nations, the prevalence of genes and inherited disorders and their associated morbidity and mortality have not been completely specified in India. As per findings from tertiary care hospitals genetic disorders/diseases such as thalassemia, hemophilia, sickle-cell anemia, retinitis pigmentosa, certain forms of muscular dystrophies, primary immunodeficiency in children, lysosomal storage disorder, cystic fibrosis (CF) were the most common monogenic genetic diseases affecting the Indian population. Despite the rising burden of genetic disorders in India, several clinical trials on gene therapy are currently being carried out in other places such as the USA, Europe, and certain other Asian countries such as South Korea, China, and Japan. Hence, the lately released national guidelines on gene therapy product`s clinical trials might help to evolve the field of gene therapy which has the potential to cater to the large unmet clinical/medical needs of Indian patients.


Gene therapy is a propitious and promising field of biomedical research. Ameliorating the safety as well as the efficacy of gene therapy is an essential need. The US and Europe are the pioneers in this field with clinical trials being carried out for over two decades and India has indulged in it with significantly more awaiting outcomes. Lately, there has been an escalation in the number of gene therapy research and activities in India. Stakeholders should develop some strategies for adhering to the national guidelines to establish gene therapy as a potential/reliable treatment option in the future.