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Diagnosing Genetic Inherited Disorders: Lessons from Leading Women's and Ch...

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Birmingham Room, Bella Center Copenhagen

Center Blvd. 5

2300 København S

Copenhagen

Denmark

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Description

In this Corporate Satellite Seminar, you will hear from 4 clinical scientists on their experiences in ground-breaking projects across the UK.

Clinical Scientists from Great Ormond Street Hospital, University College London GOS and Birmingham Women's & Children's Hospitals will speak on how they ensure the rapid and accurate analysis of exomes and whole genomes in their clinics, and their experiences in providing comprehensive diagnoses for patients with rare diseases.

What you will learn

  • Hear a case study of rapid prenatal diagnosis, with a turnaround time of 2 weeks from sample to report
  • Learn about experiences from the Prenatal Assessment of Genomes & Exomes (PAGE) project and how one children’s hospital has translated clinical research into clinical genomics services
  • Explore how a leading UK clinic ensures precision and accuracy in rapid genome analysis
  • Hear from a clinical scientist issuing reports for the UK 100K Genomes Pilot Project, and some of the lessons learnt from the project so far

Congenica Satellite Symposium Speakers

Speakers

  • Dr Dominic McMullan, Consultant Clinical Scientist, WMRGL Birmingham Women’s and Children’s Hospital NHS Foundation Trust
  • Natalie Chandler, Senior Clinical Scientist, Great Ormond Street Hospital for Children NHS Foundation Trust
  • Hywel Williams, Senior Research Associate, UCL Great Ormond Street Institute of Child Health, University College London
  • Laura Reed, Pre-Registered Clinical Scientist, Congenica. Laura is a lead scientist working on the UK 100K Genomes Project where she produces Rare Disease Interpretation Reports
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Date and Time

Location

Birmingham Room, Bella Center Copenhagen

Center Blvd. 5

2300 København S

Copenhagen

Denmark

View Map

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