‘Clinical genetic testing is carried out routinely for many different conditions to aid diagnosis and clinical management of patients. In some cases, genetic diagnosis can be critical for distinguishing between conditions with overlapping clinical symptoms. Neurofibromatosis type 2 and Schwannomatosis are two genetic disorders that cause an increased risk of developing tumours of the nervous system and can be difficult to distinguish in many cases. My research aims to improve genetic testing strategies by identifying the underlying causes of tumour-predisposing disorders in cases where a cause cannot be identified through routine testing. I will discuss some of the techniques that are used for this type of testing and how some less common gene changes can be identified.’
Miriam Smith is a Senior Lecturer in Cancer Genomics at the University of Manchester. She received her bachelor’s degree in Molecular and Cellular Biology from the University of Bath in 2000 and her PhD in Molecular Neuroscience from University College London School of Pharmacy in 2004. During a postdoctoral research position at Massachusetts General Hospital/Harvard Medical School, she began investigating the genetics of schwannomatosis, a tumour predisposition disorder that causes affected people to develop tumours of the nervous system. In 2009 Dr Smith returned to the UK to join The University of Manchester/St Mary’s Hospital and in 2011 she was awarded a Young Investigator Award from the Children’s Tumor Foundation to undertake a project which led to the discovery of germline SMARCE1 mutations as a cause of a novel tumour predisposition disorder that causes affected people to develop clear cell meningioma tumours. Dr Smith became a Lecturer in 2013 and a Senior Lecturer in 2020. She and her group continue to investigate the molecular genetic mechanisms that cause heritable predisposition to tumour development.
Interested in more?
If our talk from Dr Miriam Smith got you curious about the Polymerase Chain Reaction technique and the use of microsatellite genetic markers then check out these YouTube videos below for more information!
What We Need From You
To facilitate the Q&A session, please leave your questions in the comment section below. Our host will collate them in advance for the speaker to answer during the talk. You are of course very welcome to ask questions live as well.
Here is the link to our YouTube channel for you to access the talk: https://www.youtube.com/channel/UCNLjdnS8qSZfJ2nBFBfdP4g
Hope to see you there!