Thematic Axes

  • Exome and genome in neonatal screening and EIM: scope and limitations.
  • Technological advances in neonatal screening and new diagnostic methods, including omics.
  • Artificial intelligence linked to neonatal screening and diagnosis for EIM.
  • Ethical, legal and social implications in neonatal screening and EIM. 
  • State of the art of neonatal screening in Latin America.
  • Networks in Latin America to optimize resources in neonatal screening and in the diagnosis and treatment of EIM. 
  • Basic panels in neonatal screening and new disorders to be incorporated (e.g., SMA, SCID, ADL-X).
  • Evaluation and quality management in the laboratory. 
  • Lysosomal diseases: from neonatal screening to treatment.
  • New therapeutic modalities for IEM (gene therapy, RNA-based medicine, and others).
  • New treatments for intermediary metabolism diseases.
  • Congenital defects of glycosylation and new genetic technologies for their diagnosis.
  • Disorder of brain creatine metabolism: neonatal screening, diagnostic confirmation and therapeutic advances.
  • Clinical approach and diagnosis of neurotransmitter defects.
  • Metabolic disorders of vitamins, cofactors and trace elements.
  • Peroxisomal metabolism, bile acids and lipoproteinies.
  • Clinical approach and neonatal screening of: amino acid disorders, urea cycle defects, beta oxidation defects, organic acidurias.
  • Advances in the diagnosis and treatment of mitochondrial diseases.
  • IEM in adults
  • IEM: Newly described diseases. 
  • Educational tools for patients and their families in rare diseases.
  • Telemedicine in EIM: challenges, promises and realities.