One cell at a time....
My name is Oli and I am Fabian’s older sister. At University I studied Biomedical Sciences, which was partly inspired by my experience observing the medical profession through my brother’s treatment. Before Fabian died, I had applied to do my dissertation in the area of childhood Acute Lymphoblastic Leukaemia (cALL). When my brother died a few weeks before I was due to start my project, I was heavily advised not to study in this area because it may have been too difficult for me so soon. However, I insisted that I felt really passionate about this area of medicine and that it would be therapeutic for me to contribute in even some small way to cancer research. So in January 2015 I started an 8 week project under the supervision of Dr Julie Irving and her team in the Northern Institute for Cancer Research.
Leukemia is a ‘highly heterogenous’ disease, which means that there are usually many different populations of cancerous cells within one patient sample. All these populations have different genetics – which means that a drug that is effective against one population may not be effective against another.
The study of genetics has come on leaps and bounds in the past few years due to genome sequencing, but the amount of starting material required for these methods is typically between 1-500 nanograms. A single human cell contains 1000 - 50,000 times less genetic material than this. Therefore, the DNA in a single cell needs to be amplified before it can be analysed. My project focused on the optimisation of a kit that utilises Whole Genome Amplification, a technique which amplifies the DNA in single cells so that it can be analysed.
Dr. Irving's research has shown that approximately 40% of relapse patients have a particular mutation in their cancer cells, but to confirm that the entire malignant population has the same mutation, the genetics of every single cell must be analysed. This is where the technique of Whole Genome Amplification is essential.
Being able to contribute towards the research in this field was hugely rewarding for me, because my brother relapsed several times throughout the course of his disease. Cure rates of childhood ALL are approaching 90%, but for children who relapse, 5 year survival rates drop to between 20-50%. Treatment options for these patients are limited and so there is a critical need for novel therapeutics.
After the founding of my brother’s charity, we decided that we would love to donate some funds to the team that I did my dissertation with, who are researching novel treatments for relapsed ALL. Dr Irving has advised us that a ‘benchtop centrifuge’s is needed in the lab, which will allow both newly diagnosed and relapsed leukemic samples to be processed more quickly.
This is one small area of research into cALL that we are keen to donate to and hope that in the future we will be able to donate to other projects in an effort to continually improve the survival rates from this devastating disease.