Every month, one member of the TGMI team will tell us why they are so committed to the vision of the TGMI, and share a bit more about their work and interests. This week we hear from David FitzPatrick, Group Leader and Section Head at the MRC Human Genetics Unit in Edinburgh.
What has been the main focus of your work to date?
I have had a program in the MRC Human Genetics Unit in Edinburgh for the last 18 years which has focussed on paediatric genetic disease. In particular my goal has been to improve our understanding of the causes of severe developmental disorders and to use this information to provide better care for the children. I have two areas of special interest; severe eye malformations (missing or very small eyes) and severe intellectual disability
What are you most excited about in genetic medicine?
The remarkable transformation in our ability to make specific and accurate diagnoses in children – this has proven to be transformational for the families, many of whom have been waiting a long time for an explanation
What are you most concerned about in genetic medicine?
It is very important that we have robust evidence for the association between a gene and a particular clinical problem and, even more crucially, the exact variant identified in a child and the clinical problem in the child. Assigning the wrong diagnosis can be much worse than making no diagnosis.
Why did you get involved in TGMI?
I am one of the team that has been leading the DDD study. One of my main roles has been to establish a database – called DDG2P – of all known genes causing severe developmental disorders and their associated mechanism. This is designed to be used in variant filtering of whole exome and whole genome sequence data. The architecture that we have developed in DDD has expanded to become the G2P system which is hosted by EBI and this can be used – once the disease-gene assignments have been done – to filter for any class of genetic disease.
What is the most important thing that you would like the TGMI to achieve?
To ensure that we can use genomic data safely in clinical practice
If you had a magic wand (i.e. unlimited people/resources) what would you do to make genetic medicine work?
We need systems that can capture and codify the breadth and severity of all the clinically relevant phenotypes in each affected child (and adult). This is essential for us to understand the variability of effect of different classes of variants in known disease genes
Do you have a favourite gene? If so – what and why?
SOX2. It encodes for a transcription factor that is essential for almost every aspect of our development and in the maintenance of our stem cells. However 15 years ago we found that losing one of our two copies of SOX2 is the most common cause of bilateral anophthalmia (where babies are born with both eyes missing). If we can understand how SOX2 does the amazing things that it does we should be able to use this to create eyes and other complex tissues in the laboratory
What is a surprising fact that few people know about you?
I have never owned a television!
If you had a chance to experience a completely different career for a week, what job would you try?
I have always wanted to be a hotel lobby pianist – this is my retirement plan but maybe I should try it for a week first!