About my research
My research explores the genetic basis of rare conditions, and especially a group of conditions called “developmental disorders”. These are mostly genetic conditions which affect the growth and development of children in the womb and in early life. My work aims to help patients and families with developmental disorders by finding new diagnoses, understanding the biology of these conditions, and hopefully developing new treatments.
Journey to the viva
At the start of my PhD, I focused on a specific type of genetic change called “nonsense variants”. Nonsense variants are a genetic spelling mistake which can cause a gene to stop working completely. In my work, we tried to better understand the effect of these mutations in different genes and diseases, to help clinicians find a diagnosis for the patients in their care.
Later in my PhD, I helped colleagues in our department and our collaborators across the world with the discovery of two new genetic conditions called “RNU-opathies”. These distinctive conditions are caused by genetic changes in very small genes, called the “snRNA genes”. These genes are interesting scientifically, because they control some of the most basic functions of our cells.
Reflections on the PhD experience
Even apart from the science, the PhD has been an amazing learning experience. I have been very fortunate to be supported by some amazing friends and colleagues at the MRCC and beyond. The collegiate and mentoring dynamic of the department has been really important to me as an early career academic. I was especially fortunate to be jointly supervised by Siddharth Banka and Jamie Ellingford and to benefit from their combined expertise in rare conditions, medical genetics and computational biology. Throughout the PhD I have really enjoyed the collaborative nature of our research, learning from and working alongside colleagues and collaborators with different skillsets towards a common goal.
Future directions
I am very excited to continue my academic journey as a postdoctoral researcher with Nicola Whiffin at the Computational Rare Disease Genomics group in Oxford. Nicola was a close collaborator on much of my work during the PhD, and led the discovery of a new condition which I worked on in the last year of my studies. It’s an exciting time to be working in the field of rare conditions. There is so much more to discover, and so many opportunities to harness those discoveries to benefit patients and families affected by rare conditions.