Diagnosis of Rare Diseases with Exomes (Cases in Latin America)
- News | 22. 12. 14
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.
Session
Molecular Diagnosis for Rare Diseases: Is panel sequencing enough?
- Speaker
- Seungwoo Ryu, Ph.D.
- Role
- Medical Geneticist / 3billion Inc
Session
Implementation of Genomic diagnosis in a public hospital in Argentina
- Speaker
- Rodolfo Rey, MD, Ph.D.
- Role
- Principal Investigator / National Scientific and Technical Research Council of Argentina (CONICET)
Session
Application of WES for the molecular diagnosis of inherited ocular diseases
- Speaker
- Juan Carlos Zenteno, MD, MsC, Ph.D.
- Role
- Medical Genetics Professor / Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico (UNAM)
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3billion Inc.
3billion is dedicated to creating a world where patients with rare diseases are not neglected in diagnosis and treatment.
