Biotechnology opens the door to gene therapies for rare diseases

Scarcity of treatments, inequality in access to specialized services, and obstacles in research funding—these are some of the main challenges faced by the nearly three million people living with rare diseases in Spain. It is estimated that there are more than 7,000 rare diseases, many with a strong genetic component, affecting not only the physical abilities of patients but also their mental, sensory, and behavioral capacities.

The concept of rare diseases began to gain recognition in the late 20th century when the scientific community and patient associations pushed for greater visibility of these uncommon conditions. In 2008, Rare Disease Day was established, celebrated every February 28th, with the goal of raising public awareness, boosting research funding, and advancing new diagnostic and therapeutic strategies. Over the years, this day has become a global platform to advocate for patient rights and promote international scientific collaboration.

The CIBER Rare Diseases area (CIBERER) is Spain’s reference center for rare disease research. Its primary goal is to coordinate and promote basic, clinical, and epidemiological research while ensuring that lab-based discoveries reach patients, providing scientific answers born from interactions between healthcare professionals and patients. The consortium, a partner of AseBio, has launched various initiatives aligned with the main research challenges in rare diseases, as defined by the International Rare Diseases Research Consortium (IRDiRC), focusing on reducing diagnosis times and developing new therapies.

Biotechnology and Research Advances

Biotechnology lies at the heart of CIBERER’s progress in diagnosing and treating rare diseases. The implementation of molecular diagnostic techniques, such as next-generation sequencing (NGS), has revolutionized how these conditions are diagnosed, making the process faster and more accurate. This progress has enabled researchers to personalize treatments, significantly improving patients’ quality of life.

Crucial strides have also been made in developing gene therapies for some rare diseases, such as neuromuscular disorders and metabolic conditions. These therapies, which involve modifying or replacing faulty genes, are a major focus of the consortium. Cutting-edge techniques like CRISPR allow for molecular-level corrections of genetic defects, opening new possibilities for treating genetically based rare diseases.

The Biomedical Center is not only advancing these breakthroughs but also sponsoring 17 orphan drugs—those specifically designed to treat rare diseases—and conducting late-stage clinical trials to apply these gene therapy-based treatments. Thus, biotechnology is closely linked to CIBERER’s developments, helping patients access innovative and personalized treatments.

Progress in Therapeutic Targets and Biotechnology

CIBER’s rare disease area also focuses on identifying new therapeutic targets for various rare diseases, using cell, animal, and bioinformatics models. These advances are made possible by cell culture platforms and organoids, which allow for more precise disease studies and the development of targeted treatments.

Regarding the search for therapies for rare diseases, CIBERER has achieved significant progress, such as developing lentiviral vectors to treat rare hematological diseases, some of which are already in advanced clinical trial phases in collaboration with multinational companies.

Key Challenges in Rare Disease Research

One of the biggest limitations faced by rare disease specialists is the lack of knowledge and training about many of these conditions, leading to delayed diagnoses. An additional challenge for Spain is that it remains the only country in the European Union without clinical genetics recognized as a healthcare specialty. Although the creation of the Medical Genetics and Laboratory Clinical Genetics specialties was approved on December 21, 2024, they have not yet been officially implemented. This process requires a Royal Decree and the formation of national committees, meaning the first specialist training programs will not start until at least the 2026-2027 academic year.

This absence deeply concerns the scientific community and patient associations, especially the Spanish Federation of Rare Diseases (FEDER), which has highlighted the severe difficulties faced by the more than three million people with rare conditions in the country. It is estimated that between 80% and 90% of these diseases have a genetic origin, so the lack of recognized specialists slows down diagnoses, which currently take an average of four years. Additionally, this situation creates disparities in access to genetic testing and specialized counseling.

FEDER and other sector entities have advocated for the effective recognition of clinical genetics as a specialty in Spain, which would integrate genomic medicine into the healthcare system, promoting more equitable and effective care. In this regard, the recent agreement by the SNS Human Resources Commission, approving the creation of the Medical Genetics and Laboratory Clinical Genetics specialties, represents a significant step forward. Implementing these specialties will be crucial for improving the diagnosis and monitoring of rare diseases.