Speakers will present cases from Latin America that show how a patient’s diagnostic odyssey was solved through whole exome sequencing (WES). The advantages of WES tests compared to other tests will be discussed. Attendees will be able to learn about the latest in genetic diagnosis for rare genetic disease patients and be able to ask questions after each presentation, giving those interested a chance to learn more from these renowned doctors.
Molecular Diagnosis for Rare Diseases: Is panel sequencing enough?
Seungwoo Ryu, Ph.D.
Medical Geneticist / 3billion Inc
Implementation of Genomic diagnosis in a public hospital in Argentina
Rodolfo Rey, MD, Ph.D.
Principal Investigator / National Scientific and Technical Research Council of Argentina (CONICET)
Application of WES for the molecular diagnosis of inherited ocular diseases
Juan Carlos Zenteno, MD, MsC, Ph.D.
Medical Genetics Professor / Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico (UNAM)
