Rare diseases, though uncommon, affect a significant portion of the global population. A disease is considered rare when it affects fewer than 5 in 10,000 people. ? Globally, it is estimated that there are around 7,000 rare diseases, impacting 7% of the population, which equates to about 400 million people.
Characteristics of Rare Diseases
Genetic Origin: Most rare diseases have a genetic origin (80%) and often manifest during childhood. In fact, many of these conditions appear before the age of 2, and between 70% and 90% of cases are diagnosed in childhood.
Chronic and Degenerative: These diseases are generally chronic, progressive, and degenerative.
Severity: Sixty-five percent of these conditions are severe and disabling, causing chronic pain and problems in motor, sensory, or intellectual development in half of the cases.
Disability and Mortality: Additionally, they lead to disabilities in patients’ autonomy, with high mortality rates.
Limited Treatment: Although many lack curative treatments, there are therapies available that can improve the quality of life for patients, though access to these treatments can be limited due to regulatory differences between countries and regions.
Major Challenges of Rare Diseases
Diagnosis: Diagnosing rare diseases is one of the greatest challenges. The lack of knowledge about these diseases makes diagnosis a lengthy and complex process, delaying access to available treatments and worsening the patients’ situation. More than half of those affected must wait up to six years to obtain a diagnosis. Early diagnosis could prevent deterioration in 31% of cases.
Treatment: The development of treatments for rare diseases faces significant obstacles. Pharmaceutical developments usually focus on diseases that affect a larger number of people, as they are more profitable investments. For this reason, while treatments for rare diseases are clinically possible, they are not always commercially viable. Currently, only 5% of rare diseases have a treatment.
Advances in the Treatment of Rare Diseases
Despite the challenges, there have been significant advances in the past two decades thanks to increased awareness and the implementation of special legislation, as well as the involvement of research organizations, the pharmaceutical industry, and health authorities.
- Orphan Drugs
Orphan Drugs: Orphan drugs are those not developed by the pharmaceutical industry for economic reasons, as they are intended for a small group of patients. However, these drugs respond to public health needs, and many have been specifically designed to treat rare diseases.
Incentives: European health authorities have established incentives to promote the development of these drugs, including marketing advantages, grants to pharmaceutical laboratories, and the simplification of administrative processes.
- Gene Therapy
Gene Therapy: In recent years, advances in gene therapy and gene-editing technologies have opened new possibilities for treating rare genetic disorders. These techniques allow for the correction or modification of genetic mutations responsible for the disease.
Promising Strategies: Currently, gene therapy with adeno-associated virus (AAV)-based vectors offers a promising strategy for treating many rare diseases. These viruses are used as vectors to transport the correct or necessary genetic information to the affected cells.
Conclusion
Rare diseases represent a significant challenge for modern medicine due to their diversity and the complexity of their treatment. However, thanks to research and advances in gene therapy, as well as incentives for the development of orphan drugs, new ways are opening up to improve the quality of life for patients. It is essential to continue promoting research and the development of treatments for these diseases, as well as raising awareness and supporting affected families.
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