7.00 hs. | Open Secretary desk
In the Secretariat, you will be able to:
- Collect your accreditation.
- Obtain information about the sessions and speakers.
- Make inquiries and resolve any doubts you may have about the congress
From 8.00 hs | Pre-congress course NEWBORN SCREENING
8.00 hs Accreditation
8:15 hs Opening & Welcome
8:30 hs Comprehensive Performance of the Newborn Screening Laboratory (Moderator: Graciela Queiruga 🇺🇾)
- 8:30 hrs Newborn Screening Laboratory Performance: From Pre-Analytical to Post-Analytical – Gustavo Borrajo 🇦🇷
- 8:55 hs Assessment of Laboratory Performance: The Experience of the Newborn Screening Quality Assurance Program (NSQAP) – Ernesto Gonzalez 🇺🇸
- 9:20 hs Accreditation of a Newborn Screening Laboratory. Experience in quality management – Sergio Obando 🇨🇷
- 9:45 hs Questions
10:00 hs Break
10:20 hs Analytical Phases of the Newborn Screening Laboratory (Moderator: Gustavo Borrajo 🇦🇷)
- 10:20 hrs The Importance of the First Steps: Pre-Analytical Phase in the Neonatal Screening – Martha Ascurra 🇵🇾
- 10:45 hs Unraveling the Complexity of the Analytical Phase of the Newborn Screening Laboratory- Isabel Ibarra 🇲🇽
- 11:10 hs Post-analytical Factors That Can Affect the Quality of Newborn Screening Program- Amy Gaviglio 🇺🇸
- 11:35 hs Preguntas
11:50 hs Lunch Break
13:20 hs Expanded Newborn Screening and New Technologies (Moderator: Aida Lemes 🇺🇾)
- 13:20 hrs Expanded Newborn Screening with Mass Spectrometry – Cecilia Queijo 🇺🇾
- 13:45 hs Confirmatory Studies for Expanded Newborn Screening – Mildred Jiménez 🇨🇷
- 14:10 hs New Technologies in the Newborn Screening Laboratory and Their Analytical Performance – Raquel Yahyaoui 🇪🇸
- 14:35 hs Questions
14:50 hs Break
15:10 hs Newborn Screening Programs in Latin America: Current Events, Cooperation and Integration (Moderator: Mildred Jiménez 🇨🇷)
- 15:10 hrs Newborn Screening experiences in Guatemala, El Salvador, Honduras and Nicaragua – Pablo TzorÃn 🇬🇹
- 15:25 hs Newborn Screening experiences in Haiti, Dominican Republic, Cuba, Puerto Rico, and Caribbean Islands – Ceila Pérez 🇩🇴
- 15:40 hs ENewborn Screening experience in Costa Rica – Manuel Saborio Rocafort 🇨🇷
- 15:55 hs Newborn Screening experiences in Colombia, Paraguay, Ecuador, Bolivia and Peru – Martha Ascurra 🇵🇾
- 16:10 hs Newborn Screening experience in Brazil – Ida Schwartz 🇧🇷
- 16:25 hs Newborn Screening experience in Uruguay – Graciela Queiruga 🇺🇾
- 16:40 hs Questions and conclusions
From 8.00 hs | Pre-congress course INBORN ERRORS OF METABOLISM AND KETOGENIC DIET: IMPLEMENTATION AND APPLICATION CHALLENGES
8.00 hs Accreditation
9:00 hs Welcome – Verónica Cornejo 🇨🇱
9:15 hs Pathophysiological basis of the Ketogenic Diet in Inborn Errors of Metabolism – Marisa Armeno 🇦🇷
9:45 hs When to Consider the Ketogenic Diet in Inborn Errors of Metabolism – Soraia Poloni 🇧🇷
10:15 hs Break
Coordinators MarÃa Jesús Leal-Witt 🇨🇱 and Sara Guillen 🇲🇽
- 11:00 hrs Implementation of the ketogenic diet – Sara Guillen 🇲🇽
- 11:30 hs Chilean experience in ketogenic diet and GLUT-1 – Verónica Cornejo 🇨🇱
- 12:00 hs State of the art of the ketogenic diet in another IEM – MarÃa Jesús Leal-Witt 🇨🇱
- 12:30 hs Discussion and questions. Conclusions.
- 13:00 hs Lunch Brak
- 14:30 hrs Survey results on the use of ketogenic diet in Latin America – MarÃa Jesús Leal-Witt 🇨🇱
- 14:45 hs Clinical case and discussion. Patient Glut-1 – Soraia Poloni 🇧🇷
- 15:30 hs Break
- 16:00 hs Case report and discussion. Mitochondrial disease Marisa Armeno 🇦🇷
From 13.00 hs | Pre-congress course HEREDITARY METABOLIC DISORDERS WITH ADULT PRESENTATION
13:00 hs Introduction – Charles Lourenço 🇧🇷 y Hernan Amartino 🇦🇷
13:10 hs Diagnostic approach to neurometabolic syndromes in adults – Charles Lourenço 🇧🇷
13:25 hs Challenges in the follow-up: transition from pediatrics to adult care – european experience – Francoise Maillot 🇫🇷
13:50 hs Congenital disorders of glycosilation in adults: clues for diagnosis – Eva Morava 🇺🇸
14:10 hs Adult onset metabolic leukodystrophies: the ALD phenotypic spectrum – Hernan Amartino 🇦🇷
14:30 hs ENPP1 and ABCC6 deficiencies – a spectrum of calcification disorders affecting adults (and also children) – Matthew Winton 🇺🇸
14:50 hs Questions and Answers
15:00 hs Break
15:30 hs IEM mimicking psichiatric disordes in adults – Charles Lourenço 🇧🇷
15:50 hs Mitochondrial disorders in adults – clues to the diagnosis and new therapies – Tamas Kozicz 🇺🇸
16:15 hs FAOD in adults: myopathy and rhabdomyolisis presentations – Deborah Marsden 🇺🇸
16:45 hs Questions and Answers
17:00 hs Wrap-up
18.30 to 19.15 | Opening Lecture.
- Quo vadis now in Inherited Metabolic Diseases – Eva Morava 🇺🇸
19.15 to 20.00 hs. | Opening Ceremony
- More information coming soon
20.00 to 22.00 hs. | Welcome cocktail
Immerse yourselves in the festive atmosphere as live music fills the air with its vibrant energy. Enjoy the company of colleagues as you explore the culinary delights we have prepared for you.
7.00 hs. | Open Secretary desk
- Collect your accreditation.
- Obtain information about the sessions and speakers.
- Make inquiries and resolve any doubts you may have about the congress
8.30 to 10.30 hs. | Lysosmal diseases
- [8.30 hs] Newborn screening for lysosomal diseases: Long-term results and future challenges – Dietrich Matern 🇺🇸
- [9.00 hs] Advances in Neuronal Ceroid Lipofuscinosis. – Raymond Wang 🇺🇸
- [9.30 hs] Advances in the management of Metachromatic Leukodystrophy – Dr. Hernán Amartino 🇦🇷
- [10.00 hs] Questions
10.30 to 10.45 | Coffe Break
It’s time to recharge and socialize! Coffee breaks offer a space to relax, chat with colleagues, and enjoy.
10.45 to 12.30 hs. | Room 1: Energy metabolism and neurotransmitters defects / Room 2: NBS: Update on the basic NBS panel
Room 1
Energy metabolism and neurotransmitters defects
- [10.45 hs] Clinical approach and diagnosis of neurotransmitter defects. – Angels GarcÃa-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
Room 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 SaborÃo 🇨🇷
- [12.15 hs] Questions
14.00 to 15.30 hs. | Sala 1: IEM of phenylalanine / Sala 2: Tools to improve results
Room 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
Room 2
Tools to improve results in NBS
- [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
15.30 to 16.00 hs. | Coffe Break
It’s time to recharge and socialize! Coffee breaks offer a space to relax, chat with colleagues, and enjoy.
16.00 to 16.50 hs. | Oral Presentations
Coming soon.
16.50 to 17.45 hs. | Sala 1: Equity for IEM in Latin America / Sala 2: NBS: New diseases included in the NBS panels
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
17.45 to 18.30 hs. | CONGENITAL DISORDERS OF GLYCOSYLATION
- [17.45 hs] CDG: CDG: New phenotypes and therapies – Eva Morava 🇺🇸
- [18.15 hs] Questions
18.30 to 20.30 hs. | After-meeting with Poster Presentation Tour
Coming soon
7.00 hs. | Open Secretary desk
- Collect your accreditation.
- Obtain information about the sessions and speakers.
- Make inquiries and resolve any doubts you may have about the congress
8.30 to 10.15 hs. | IEM INTERMEDIARY UPDATE
- [8.30 hs] Technological advances in newborn screening and new diagnostic methods including omics – Giancarlo La Marca 🇮🇹
- [9.00 hs] New treatments for intermediary metabolic diseases – Angels GarcÃa-Cazorla 🇪🇸
- [9.30 hs] Clinical manifestations, long-term outcomes and newborn screening for citrin deficiency. – Kimitoshi Nakamura 🇯🇵
- [10.00 hs] Questions
10.15 to 10.45 hs. | Coffe Break
It’s time to recharge and socialize! Coffee breaks offer a space to relax, chat with colleagues, and enjoy.
10.45 a 11.40 hs. | Room 1: Enfermedades Lisosomales / Room 2: PN: Tendiendo redes
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
11.40 to 12.30 hs. | Oral presentations
Coming soon
12.45 to 13.45 hs. | Simposios
14.00 to 15.30 hs. | Room 1: Novedades en EIM / Room 2: Pesquisa Ampliada de la organización al panel de estudios
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
15.30 to 16.00 hs. | Coffe Break
It’s time to recharge and socialize! Coffee breaks offer a space to relax, chat with colleagues, and enjoy.
16.00 to 17.15 hs. | ADVANCES IN NEUROMETABOLIC DISEASESÂ Â Â Â Â
- [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
17.30 to 19.00 hs. | ASSEMBLY SLEIMPN
Coming soon
20 hs. | CLOSING DINNER
Limited tickets
08.45 hs. | Open Secretary desk
- Collect your accreditation.
- Obtain information about the sessions and speakers.
- Make inquiries and resolve any doubts you may have about the congress
9.00 to 10.15 hs. | EXOME AND GENOME IN NBS AND IEM
- [9.00 hs] Precision metabolic medicine: genetic diagnosis and targeted therapy for IEM. – Belén Pérez 🇪🇸
- [9.30 hs] Ethical, legal and social equity aspects in the era of genomic newborn screening. – Amy Gaviglio 🇺🇸
- [10.00 hs] Questions
10.15 to 10.45 hs. | Q&A
From Guthrie to genomics: a life devoted to newborn screening – Graciela Queiruga 🇺🇾
10.45 to 11.15 hs. | Coffe Break
It’s time to recharge and socialize! Coffee breaks offer a space to relax, chat with colleagues, and enjoy.
11.15 to 12.00 hs. | Confernce Dr. Néstor Chamoles
Mucopolysaccharidosis: progress achieved and challenges to overcome – Roberto Giugliani 🇧🇷
12.00 to 12.15 hs. | Awards ceremony
Coming soon
12.15 to 12.30 hs. | Closing ceremony
Coming soon