Horario Actividad
08:00 a 08:30 Protocolo: Registration and welcoming
08:30 a 09:10 Conferencia: Neurological disorders through a genetic lens
Dr. Dennis Lal | Director del Centro de Neurogenética de UTHealth Houston.
09:10 a 10:00 Conferencia: Next-generation sequencing diagnostics for neurological disorders: from a clinical perspective
Dr. Luis Leonardo Flores Lagunes | Médico Especialista C adscrito al Laboratorio de Diagnóstico Genómico,INMEGEN, México.
10:00 a 10:30 Receso: Coffee break
10:30 a 10:40 Conferencia: Maximizing Accuracy in Variant Classification: Moving Beyond the Minimum
Dr. Dennis Lal | Director del Centro de Neurogenética de UTHealth Houston.
10:40 a 11:00 Conferencia: Overview of ACMG Variant Pathogenicity Classification Guidelines
Dr. Tobias Brünger | Data scientist, University of Texas, Health Science Center at Houston.
11:00 a 12:00 Conferencia: Tools to Apply Up-to-Date Variant Pathogenicity Classification Criteria
Dr. Tobias Brünger | Data scientist, University of Texas, Health Science Center at Houston.
Ms. CGC. Emile Moura Coelho | Genetic Counselor, UTAH, Houston.
12:00 a 12:30 Receso: Receso y brunch
12:30 a 13:30 Conferencia: Variant Classification Case Examples
Dr. Tobias Brünger | Data scientist, University of Texas, Health Science Center at Houston.
Ms. CGC. Emile Moura Coelho | Genetic Counselor, UTAH, Houston.
13:30 a 14:00 Conferencia: Beyond Variant Pathogenicity: Molecular Function & Disease Mechanism
Dr. Dennis Lal | Director del Centro de Neurogenética de UTHealth Houston.
14:00 a 14:30 Protocolo: Closing Remarks
Horario de la Ciudad de México