Jump Main Menu. Go directly to the main content

Sección de idiomas


Fin de la sección de idiomas

Access / Registration

Sección de utilidades

Fin de la sección de utilidades


Start of main content

Research centres : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid (Madrid)

Lourdes Ruiz Desviat

Doctor in Biology, Universidad Autónoma de Madrid, 1990. Tenured Professor of the Department of Molecular Biology of the UAM and Head of the line of research into the "molecular bases of hereditary metabolic diseases and research into new therapies" in the Centro de Biología Molecular Severo Ochoa. Member of the CIBER de Enfermedades Raras (CIBERER) and the Instituto de Investigación Sanitaria IdiPaz. She is head of genetic diagnostics in the Centro de Diagnóstico de Enfermedades Moleculares (CEDEM).

Her research work covers the study of the molecular bases of phenylketonuria and other organic acidemias, together with the development of new therapeutic strategies. Among others, her most outstanding achievements include the elucidation of the molecular mechanism underlying the response to treatment with cofactor BH4 in phenylketonuria, and the application of antisense therapy to correct splicing mutations in neurometabolic diseases. She has established the testing of the concept of the therapeutic use of end suppressor compounds in organic acidurias. Likewise, she is characterising mitochondrial dysfunction and the implication of miRNA in the pathology of propionic acidemia.

She has been the head researcher in competitive national projects since 2001. Her scientific production includes 110 publications in indexed journals, some with a high impact index in the area of Genetics, and more than 200 communications to congresses.

Scientific production

Article published in Journals: 1

End of main content