As an undergraduate medical student coming to study with us, Ellie was ready to throw herself into training to become a doctor. Ellie returned to Southampton to carry out her PhD where she would discover a new genetic condition.
Why I chose Southampton for my PhD
After I graduated from the BM5 course in 2016, I applied for what was called the Academic Foundation programme which I undertook in London. During this time, I continued working with Professor Sarah Ennis, Professor of Genomics at Southampton, who I did my intercalated (I studied a specialist subject alongside my degree.) masters’ with.
After presenting my work with Professor Ennis at a conference in the USA, I was then approached by the Broad Institute of MIT and Harvard to further my study and research in genomics and I took up this post after my foundation training.
Having been fortunate enough to work with Professor Sarah Ennis since an undergraduate student, I continued to do a PhD with Professor Ennis.
During my time at the Broad, I was able to arrange a PhD jointly supervised between the Broad Institute and Sarah at Southampton. I initially started it in the USA and then flew home just before the pandemic. I was very fortunate that I was able to build my PhD project around the work I'd already been doing since I was an undergraduate student with the support of such a world class supervisory team.
It’s amazing to think that my interest in paediatrics and genomics research, which started when I was a Southampton undergrad, has continued to this day in my role as an academic clinical fellow in paediatrics.
Ellie, BM5 Medicine
Bringing clarity to those affected by elusive genetic disorders
Genetic disorders are caused by defects in our genes, but only 20 to 30% of people with genetic disorders get a diagnosis. For patients and their families, that is hugely frustrating and incredibly difficult to live with. Part of my PhD was to try and identify genes that cause disease, to hopefully give some clarity to people.
Our work found 18 genes that didn't have an association with disease, but where more than one individual had mutations in the same gene and whose clinical features were overlapping. We focused on the DDX17 gene and found 11 patients exhibiting similar genetic alterations and developmental delays and the disorder is now officially named Seaby-Ennis Syndrome.
The impact my work had on patients
While we haven’t been able to change the outcome for these patients, we have been able to give some clarity. We can’t undo the problems they've been born with, but we’ve been able to help them make sense of it. It’s been amazing to see some families set up Facebook groups to help and support each other.
Making the syndrome easier to understand
It’s a bit odd to name something after yourself but I chose the name Seaby-Ennis Syndrome to honour the contributions made by myself and Professor Ennis. But more than that, it’s an easier name for the families to use to describe the condition. The scientific name is DDX17-related global developmental delay but our name is softer for patients and their families to say.
My career journey through my undergraduate experience
It’s amazing to think that my interest in paediatrics and genomics research, which started when I was a Southampton undergrad, has continued to this day in my role as an academic clinical fellow in paediatrics. I went into medical school not really knowing what my working career would be like. I was nervous about the training and about becoming a doctor, particularly as a wheelchair user. But I’ve been hugely influenced and shaped by the people around me and who taught me, and I've been very fortunate that those relationships are still strong even to this day.
If I'd said to my younger self, that I would be where I am now, doing what I'm doing now, I would never have believed it, so it just shows you what the possibilities could be. There have been challenges but I’ve worked hard and taken the opportunities that have come my way. I am very grateful for all the support and guidance I’ve had from my So
