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Eurordis - Rare Disease Europe

05/10/2018

Lesson 1: History in Genetics


Expert: Ségolène Aymé
ICM Brain and Spine Institute Hôpital de la Pitié-Salpêtrière

Read more about the expert
Ségolène Aymé
ICM Brain and Spine Institute Hôpital de la Pitié-Salpêtrière, Paris, France.

Ségolène is a medical geneticist deeply involved in promoting and shaping genetic services in Europe.

She acted as president of the French Society of Human Genetics, of the European Society of Human Genetics (ESHG) and of the International Federation of Human Genetic Societies.

She established and chaired the Public and Professional Policy Committee of the ESHG for 10 years.

Learning objectives

  • To understand the perception of genetic determinism in medicine over time
  • The evolution of technologies to explore the genome
  • Patient and family needs and the response to them through history
  • Genetic services in Europe and beyond : diversity of approaches
  • The power and the limits of our current knowledge and attitude compared to the past one

Video Presentation


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Further Reading

Standardized framework for the validation and verification of clinical molecular genetic tests

Next Generation Sequencing Demands Next Generation Phenotyping

Assuring the quality of next-generation sequencing in clinical laboratory practice.