This series of free events will deliver a program of lectures for the clinical, scientific and research communities involved in 100,000 Genomes Project.
Organised with Queen Mary University of London (opens in new window), we have invited experts from around the world to explore subjects important in genomic medicine and share their experiences of genomic projects.
The use of clinical whole exome sequencing in the diagnosis of Mendelian disorders and pediatric cancer – Dr Sharon Plon
Date Monday 20th June 2016, 5:30-6:30pm. Followed by an informal reception.
Venue Joseph Rotblat Building, G0.2 Lecture Theatre
Queen Mary University of London
Charterhouse Square, EC1M 6BQ
Directions here (opens in new window).
In this talk Dr. Plon will review the five year experience of using whole exome sequencing tests in clinical medicine at Baylor College of Medicine. She will also describe:
- The range of mutational mechanisms and diagnoses identified in the diagnosis of children and adults suspected of having an underlying Mendelian disorder
- The results of the first prospective clinical trial of cancer and germline exome sequencing for newly diagnosed childhood cancer patients performed at the Texas Children’s Cancer Center
- The differences in results between these two distinct patient populations demonstrate the need to study clinical genomic platforms in a variety of medical settings
This seminar is free to attend but booking is essential.
If you have been to any talks in this seminar series, please let us know what you thought of them by filling in this short questionnaire (opens in a new window).
Dr Daniel MacArthur
Our latest speaker was Dr Daniel MacArthur from the Broad Institute. His research focuses on using genomics to uncover the functional impact of human genetic variation, and its role in causing severe genetic diseases.