Professor Rafael Artuch

Biography

Since 2000, I have dedicated myself to the biochemical and molecular study of hereditary metabolic diseases in the setting of a pediatric hospital. Within my scientific activities, our greatest experience focuses on the development and validation of biomarkers and analytical techniques for the study of these diseases. The new techniques have been implemented in our portfolio of services and are offered for the diagnosis of hereditary metabolic diseases to various centers in our country, but also internationally.

Our research is developed in 2 fundamental areas:

1) Biomedical area, focused on the biochemical and molecular aspects of genetically based metabolic diseases, mainly mitochondrial and neurometabolic diseases. In these fields we have contributed to the development of new biomarkers and the description of genes associated with human pathology. We are working on the first national registry of patients with mitochondrial diseases sponsored by the AEPMI and Ana Carolina Diez Mahou associations and organized by CIBERER, which has led to the first epidemiological study on these diseases. In 2016 we participated in the designation of ubiquinol as an orphan drug by the European Medicines Agency. Continuing with the area of ​​mitochondrial diseases, we have received several projects and have had the opportunity to validate several biomarkers, such as CoQ, thiamine, or recently circulating free mitochondrial DNA.

2) Area of ​​technological development and metabolomic phenotyping of models. In this second area, we are specialized in the validation of procedures for targeted metabolomic studies, such as that for neurotransmitter analysis. This procedure has allowed us to consolidate ourselves as a reference center for the diagnosis of genetic defects in neurotransmission, with more than 5,000 cerebrospinal fluid samples analyzed in the last 15 years. Our laboratory was one of the first in Spain to be accredited by the national accreditation agency ENAC (ISO 15189 standard) for analytical techniques applied within the field of inherited metabolic diseases. Finally, we have consolidated our position as a center for phenotyping of cellular and animal models, applying targeted metabolomic techniques

Participation in research committees and networks.

1) Member of the steering committee and director of the metabolic and mitochondrial medicine research program of the CIBERER network (20219-2023). Scientific director of the Genrare platform, whose function is to establish registries of rare genetic-based diseases at the country level, including mitochondrial diseases. Since 2007, HSJD group leader (U-703).

2) Scientific advisor to the international external quality control program of ERNDIM Laboratories (www.Erndim.org). This program brings together more than 410 laboratories around the world dedicated to the diagnosis of inherited metabolic diseases. As of January 2022, I was appointed director of the Executive Committee of the entire program. This program is the ideal platform to include new developments in biomarkers within external quality control programs.

3) Member of the Scientific Committee of the Spanish association of patients with mitochondrial pathology (www.AEPMI.org).