The Sant Pau Research Institute (IR Sant Pau) and the UAB create the Joint Research Unit in Genomic Medicine UAB

The Research Institute of the Hospital de la Santa Creu i Sant Pau and the Autonomous University of Barcelona have created the Joint Research Unit in Genomic Medicine UAB – IR Sant Pau with the aim of investigating the diagnosis, physiopathology and therapeutics of genetic diseases and tumour predisposition syndromes. The project is supported by the Fundació Privada del Hospital de la Santa Creu i Sant Pau.

In recent years there has been a great development, almost revolutionary, in all aspects related to medical applications of Genetics. Closely linked to technological advances in the field of mass sequencing, new genes involved in human diseases are discovered every day, opening the door to rapid and precise diagnosis and offering new therapeutic targets for drug discovery.

Each time there are new therapeutic strategies based on in-depth knowledge of the genetic causes of the disease. Therefore, an adequate genetic diagnosis is important, not only to provide good genetic counselling and clinical follow-up to patients and their families, but also to provide a personalized and accurate medicine based on genomic information of each patient. At the same time, revolutionary new therapies based on genetics, such as gene therapy, are already a reality in a growing number of pathologies.

The UAB has had a strategic vision in this field, being the only university in Spain that offers a degree in Genetics. Research in genomic medicine is also strategic for the IR-Sant Pau and much of this research is transferred to patients at the Hospital de Sant Pau through diagnostic improvements in its Genetics Service.

With the aim of continuing to strengthen this field of action, the UAB and IR Sant Pau agreed at the beginning of October to take a step forward and create the Joint Research Unit in Genomic Medicine UAB – IR Sant Pau. This unit will be made up of researchers and scientific equipment from both institutions and will focus on the field of research into genetic diseases and the transfer of genetic knowledge to a better diagnosis and treatment of this type of pathology.

The Mixed Unit will be located in new laboratories that, within the framework of this agreement, will be built inside the new building of the Research Institute of the Hospital de la Santa Creu i Sant Pau, located at Carrer Sant Quintí, 77-79 in Barcelona.

The Unit’s scientific director, Dr Jordi Surrallés, is a principal investigator at IR-Sant Pau and, at the same time, Professor of Genetics at the UAB. He will be in charge of the lines of research and will be responsible for the operation of the Mixed Unit. He joined the Sant Pau Research Institute on 15 October this year.

Research into rare diseases and cancer predisposition syndromes

Dr. Surrallés directs the Genomic Instability Syndromes and DNA Repair research group of the Sant Pau-IIB Sant Pau Research, which works in the field of human genetic diseases characterized by a high predisposition to cancer. Some of them are rare diseases (Fanconi anaemia, xeroderma pigmentosum, Bloom syndrome or ataxia telangietàsia) but others are relatively frequent among the population, such as hereditary breast or colon cancer.

Many of these syndromes are caused by mutations in people involved in DNA repair. These genes are important to prevent mutation accumulation and prevent tumor transformation. Dr. Surrallés’s team has discovered many people involved in these cancer genetic predisposition syndromes. Research on these syndromes is important to develop the mechanisms that protect us from cancer.

The group’s researchers also participate in various clinical assays on gene therapy and drug repositioning, and investigate the DNA repair gens involved in these syndromes as therapeutic targets against cancer in the general population. Some of these therapeutic investigations have led to the designation of orphan drugs by the European Medicines Agency.