Gene Therapy for Rare Diseases


Rare diseases, also known as orphan diseases, are a diverse group of disorders that collectively affect a relatively small number of people within a population. They are caused by genetic alterations in 80% of cases. While each rare disease is uncommon, as a whole, they impact a significant portion of the global population. These diseases often present unique challenges in terms of diagnosis, treatment, and support due to their low prevalence and the limited understanding surrounding them. It is estimated that around 400 million people worldwide, including children and adults, are affected by rare diseases. The prevalence varies for each specific rare disease, with some affecting only a handful of individuals globally, while others may have a larger affected population. Treatment options for rare diseases are often limited, primarily due to the lack of scientific understanding and research in these areas. Current treatment approaches may include symptomatic management, physical and occupational therapies, medications to alleviate specific symptoms, and in some cases, organ transplantation. However, significant progress has been made in recent years, and gene therapy has emerged as a promising avenue for treating certain rare genetic disorders. Gene therapy involves delivering functional nucleic acids into the patient's cells to correct the underlying genetic defects or restore normal cellular function. 
The Department of Gene Therapy Research for Rare Diseases at CIMA  is an innovative and dynamic research unit committed to advancing the field of gene therapy and addressing the unique challenges associated with rare diseases. The department's primary mission is to develop safe and effective gene therapy treatments for rare diseases that currently lack viable therapeutic options. By harnessing the power of genetic engineering and cutting-edge technologies, our aim is to address the underlying genetic defects causing these rare disorders and provide potential cures or significant therapeutic interventions to patients in need.

Dra. Gloria González-Aseguinolaza


   +34 948 194 700 | Ext. 81 4024
   Research profile

Oncology research integrated in the
Cancer Center Clinica Universidad de Navarra

Gene Therapy for Rare Diseases
Research Groups

 Gloria González Gloria González
Principal Investigator
 Carmen Unzu Carmen Unzu
Principal Investigator
Rafael Aldabe Rafael Aldabe
Principal Investigator
Rubén Hernández Rubén Hernández
Principal Investigator 

Our department integrates four research groups, each dedicated to addressing a distinct area within the realm of rare diseases. Dr. Rafael Aldabe's group focuses on renal rare diseases, striving to unravel the intricate mechanisms underlying these conditions and develop innovative therapeutic approaches. For advancing neurological rare disease research, Dr. Ruben Hernández-Alcoceba's group focuses on understanding and developing treatments for rare diseases with neurological involvement, aiming to alleviate the burdens borne by patients and their families. Dr. Carmen Unzu leads a group dedicated to sensory rare diseases, delving into the complexities of these conditions affecting hearing, with a vision to restore or enhance sensory function through cutting-edge approaches. Dr. Gloria Gonzalez-Aseguinolaza's group tackles the challenges posed by metabolic diseases, working relentlessly to unravel the metabolic pathways involved, and devising strategies to ameliorate these disorders that disrupt vital metabolic processes. Together, these four groups within the department form a powerhouse of expertise, collaborating and sharing insights to advance rare disease research and development of new therapies.

We have adapted a multifaceted approach to gene therapy research, combining in-depth genetic analysis, advanced molecular and cellular techniques, and relevant preclinical animal models. By leveraging the latest gene-editing tools (such as CRISPR-Cas9), viral vectors, non-viral delivery systems, and other emerging technologies, the researchers aim to precisely deliver therapeutic genes or correct genetic defects in affected cells or tissues. Recognizing the complexity of rare diseases and the need for interdisciplinary collaboration, the department actively collaborates with various stakeholders, including patient advocacy groups, national and internationals academic research centers, and pharmaceutical companies. These collaborations foster a rich exchange of knowledge, resources, and expertise, enabling the department to accelerate the development and translation of promising gene therapies into clinical applications.

Our ultimate goal of the department is to translate its groundbreaking research findings into tangible benefits for individuals affected by rare diseases. Through the development of safe and efficacious gene therapies, the department aims to offer hope, improved quality of life, and potential cures to patients who have long faced limited treatment options. The successful implementation of gene therapy interventions for rare diseases has the potential to transform the landscape of medical care, ushering in a new era of precision medicine and personalized therapies.

Gene Therapy for Rare Diseases
Research Program Objectives

Development of new therapeutic strategies based on gene transfer for inherited and acquired diseases for which there is no cure or for which current therapy is not satisfactory.

Analysis of the function and mechanisms of action of long non-coding RNAs in the development of pathologies and their application in the development of new therapies.

Analysis of the role of UPR and post-translational modifications of proteins in the regulation of gene expression and their implication in the development of diseases and new therapies.

Cima gene therapy clinical trial

Our translational vocation moves us to investigate therapeutic alternatives that reach patients. This is the case of VTX-801, a drug originated at Cima for the treatment of Wilson's disease, with technology licensed to the biotechnology company Vivet Therapeutics.

Currently, the pharmaceutical company Pfizer Inc. and Vivet Therapeutics have the GATEWAY study underway, a Phase 1/2 clinical trial evaluating the efficacy of the TX-801 vector for the treatment of patients affected by this rare disease.