PROGRAM

Room 1

Energy metabolism and neurotransmitters defects

• [10.45 hs] Clinical approach and diagnosis of neurotransmitter defects. – Angels García-Cazorla 🇪🇸
• [11.15 hs] Advances in the diagnosis and treatment of mitochondrial diseases – Tamas Kozicz 🇺🇸
• [11.45 hs] Mitochondrial beta-oxidation defects – José Abdenur 🇺🇸 🇦🇷
• [12.15 hs] Questions

Sala 2

NBS: Update on the basic NBS panel

• [10.45 hs] Congenital hypothyroidism: do we already know everything?– Ana Chiesa 🇦🇷
• [11.15 hs] Update on newborn screening algorithms for Cystic Fibrosis – Gustavo Borrajo 🇦🇷
• [11.45 hs] Newborn screening for hemoglobinopathies. – Manuel Saborío 🇨🇷
• [12.15 hs] Questions

Sala 1

IEM of phenylalanine

• [14.00 hs] Clinical course and transition of PKU patients to adulthood- Jaume Campistol 🇪🇸
• [14.25 hs] Molecular spectrum of tetrahydrobiopterin and DNACJ12 defects. – Cynthia Fernández 🇲🇽
• [14.50 hs] Update on PKU treatment – Verónica Cornejo 🇨🇱
• [15.15 hs] Questions

Sala 2

Tools to improve results

• [14.00 hs] Strategies to achieve efficient and effective NBS and short-term follow up– Dietrich Matern 🇺🇸
• [14.25 hs] Combinar la MS/MS y genómica para la pesquisa neonatal de EIM – Belén Pérez 🇪🇸
• [14.50 hs] Enhancing communication of newborn screening results to parents. – Amy Gaviglio 🇺🇸
• [15.15 hs] Questions

Sala 1

Equity for IEM in Latin America

• [16.50 hs] Ethical aspects in the implementation of diagnostic techniques and in the treatment of IEM.– Francisco Cabello 🇨🇱
• [17.15 hs] How to optimize resources in the diagnosis and treatment of IEM. – Ida Schwartz 🇧🇷
• [17.35 hs] Questions

Sala 2

NBS: New diseases included in the NBS panels

• [16.50 hs] Newborn Spinal Muscular Atrophy Screening – Raquel Yahyaoui 🇪🇸
• [17.15 hs] Experience in newborn screening for SCID (severe combined immunodeficiency).– Giancarlo La Marca 🇮🇹
• [17.35 hs] Questions

Room 1

Lysosomal Diseases  

• [10.45 hs] Research, diagnosis and treatment of lysosomal diseases in Colombia – Carlos Améciga 🇨🇴
• [11.10 hs] Pompe disease: update  – Raymond Wang 🇺🇸
• [11.35 hs] Questions

Room 2

NBS: Building networks

• [10.45 hs] Overview of newborn screening in Latin America and its future perspectives – Gustavo Borrajo 🇦🇷
• [11.10 hs] Building networks – Dra Carolina Fischinger Moura de Souza 🇧🇷
• [11.35 hs] Questions

Room 1

What’s new in IEM  

• [14.00 hs] Gene therapy for Inborn Errors of Metabolism – Cary Harding 🇺🇸
• [14.25 hs] Advances in the diagnosis, treatment and monitoring of organic acidosis – Jose Abdenur 🇺🇸
• [14.50 hs] Impact of exome sequencing on the diagnostic efficiency of patients with inherited metabolic diseases in Mexico. – Marcela Vela 🇲🇽
• [15.15 hs] Questions

Room 2

Extended NBS: from the organization to the study panel.  

• [14.00 hs] MS/MS NBS laboratory: guidelines for its organization – Mildred Jimenez 🇨🇷
• [14.25 hs] Expanded NBS: importance of second tier tests to reduce recitations  – Giancarlo La Marca 🇮🇹
• [14.50 hs] Metabolic findings from expanded newborn screening. – Raquel Yahyaoui 🇪🇸
• [15.15 hs] Questions

• [16.00 hs] Pyridoxine-dependent epilepsy: diagnosis, new treatments and potential newborn screening. – Curtis Coughlin 🇺🇸
• [16.30 hs] Disorders of brain creatine metabolism: NBS, diagnostic confirmation and therapeutic advances – Jaume Campistol 🇪🇸
• [17.00 hs] Questions