• Development of genomic and metabolomic techniques aimed at improving the diagnosis of hereditary metabolic diseases.

• Study of mitochondrial dysfunction and oxidative stress as a modifier of the clinical phenotype and as a potential therapeutic target in organic acidurias.

• Development of animal and cellular models.

• Registry of patients with hereditary metabolic diseases.

• Improved diagnosis of congenital defects of glycosylation and mitochondrial defects through the application of genomic techniques (RNAseq and DNAseq of exoma and genome) and metabolomics.

• Identification of intronic mutations by the capture of the PAH and OTC gene. Functional validation in cellular splicing systems.

• Development of antisense therapy and pharmacological chaperones as therapeutic approaches transverse and applicable to numerous EMH.

• Study of oxidative stress and evaluation of common signatures of neuropathogenicity and cardiotoxicity in congenital defects of glycosylation, organic acidemias and mitochondrial diseases.

• Evaluation of drugs aimed at the recovery of mitochondrial function and biogénesis.

• Search for biomarkers as predictors of HMS severity and as systems for the evaluation of pharmacological therapies.

• Characterization of pathophysiology in a murine model of propionic acidemia.

• Identification of dysregulated miRNA in propionic acidemia and characterization of its association with pathology and its usefulness as biomarkers.

• Generation of iPS of patients with organic academia and congenital defects of glycosylation and differentiation to hepatocytes, neural progenitors or cardiomyocytes.