Welcome to haplosufficient

Welcome to haplosufficient

Dear reader,

Hello and welcome!

I have been hoping to start this blog for a long time, but a busy academic life here at Cambridge left me little free time to do so. Post-PhD life now allows me some time to sit down, think and write about topics of general interest to me that are not necessarily related to my research.

Just to give you some background, I am a student about to finish her PhD (after I submit some minor corrections). During my four years here, I used the fruit fly Drosophila melanogaster to study blood cell development and differentiation with the ultimate goal to understand the mechanisms and main players involved in hematological malignancy (leukemia) formation. I think it went well. Part of my research was published in a very famous scientific journal (Nature genetics, see here). This publication confirmed the involvement of a gene (the human CUX1) in the formation of 28 different types of cancer in humans. Moreover, when the gene was inactivated in mice, it caused leukemia in most the cases. Finally, I observed a similar result in flies.

This is a very important finding because unlike other genes that are found to be mutated a lot in one type of cancer, this gene is found to be mutated in a very small portion of all cases but in many different types. This means that its mutation, although it happens at a low frequency, can lead to cancer formation in many different contexts. These genes were very hard to identify previously. The ability to sequence cancer patients’ genomes and the new computational tools available now make it possible to identify such genes.

This new discovery is very important for the fight against cancer. Knowing what gene causes the formation of a tumour can lead to a different treatment plan for the patient (I will elaborate on cancer genetic testing and personalized medicine in a future post as it is a subject I really care about and merits more than one paragraph).

As a naive undergraduate, the potential of improving life standards for people, discovering the cure for cancer, contributing to society was what made me passionate about my subject. 12 years later, the things that inspire me have not changed very much. However, I did discover that the implementation is harder than I thought. I’m determined to not give up, but just change the plan slightly.

I invite you to join me in a journey to discover and discuss all things that will make this world a better place through science and education. Hopefully, writing about it will help me find my place in the world too. After 12 years in academia, I have decided to switch to the business world (somehow – not sure where to turn yet) for a real chance to influence policy, strategy and ultimately society.

Wish me luck and keep reading.