Clinical Research

The principal investigator is clinical biochemist at the Málaga Regional
University Hospital. Since 2009 she is coordinator of the Laboratory of
Metabolic Disorders and Newborn Screening Center of Eastern Andalusia,
located in Hospital Materno Infantil of Málaga.

This laboratory analyzes the
newborn screening samples of newborns from Málaga, Granada, Almería and
Jaén. Since 2010, the center carries out the expanded metabolic screening, via tandem mass spectrometry, having studied at present about 400,000 newborns and detecting approximately 200 cases.
Her clinical work includes the early detection of congenital hypothyroidism,
cystic fibrosis, hemoglobinopathies and 28 hereditary metabolic diseases
through tandem mass spectrometry, the interpretation of results, the diagnosis of confirmation and biochemical monitoring together with specialized clinical units.

In 2012 she made a training stay at the Department of Genetics Biochemistry of the Mayo Clinic in Rochester, MN, USA, to learn about new analytical
applications of neonatal screening that she is currently performing (second level tests and post-analytical computational tools). In recent years, she has tried to combine her care work with clinical research. The fields in which she is especially interested are: the introduction of new markers in neonatal screening by tandem mass spectrometry, the quality assurance of the program, the evaluation of new technologies applied to newborn screening and the diagnostic approach to hereditary metabolic diseases. She has been principal investigator in several competitive grants and author of more than twenty publications in JCR-indexed journals. She belongs to the cross-sectional area of ​​IBIMA-RARE.