Categories: Sanger Life20 June 20193.1 min read

Melanoma, Personalised Medicine and the Middle Ages

Saskia is a Postdoctoral Fellow in the Cancer, Ageing & Somatic Mutation programme at the Wellcome Sanger Institute. She recently won the Young EHA Best Abstract Award at the 24th Congress of the European Hematology Association.

Tell us about your work in up to 10 words

I work with blood disorders, trying to find cures.

What is the most overused word or phrase in your lab?

Since I am part of David Adams’ lab, which mainly focuses on a type of skin cancer called melanoma, I guess the most common phrases are “melanoma” and “make sure to apply sunscreen!”

Describe the Sanger Institute in up to 10 words

World-renowned sequencing and analysis centre aiming to improve human health.

Why did you become a scientist?

I did become a scientist because I wanted to make an impact on cancer therapy, hoping that my work will one day improve patients’ survival outcome.

Who is your science hero?

I am really fortunate in that I have not only one but actually two science heroes. They are my previous principal investigators Claudia Scholl, who is Head of the Division of Applied Functional
Genomics at the German Cancer Research Center (DKFZ) in Heidelberg, and Stefan Fröhling, who is Director of the National Center for Tumor Diseases (NCT) in Heidelberg and Head of the Division of Translational Medical Oncology at NCT and DKFZ. They both co-supervised my PhD studies, and I am deeply grateful for their professional and personal guidance throughout that time, and their continuous support and friendship.

What is the most exciting development in your field from the last 10 years?

In my opinion, the most exciting development is the concept of ‘personalised medicine’, which means that cancer therapy is tailored to each individual patient in order to fit the characteristics of their tumour, rather than giving different patients the same treatment. We now know that although patients might
have been diagnosed with the same cancer type, they may not respond equally well to the same therapy. For example, by sequencing tumour DNA and identifying the gene mutations that are most likely driving tumour formation and progression, we can try to infer what therapy might work best on a patient-to-patient basis.

What is the most surprising discovery you have made?

Spearheaded by Chi Wong, our team validated that mutations in the POT1 gene (whose encoded protein is usually protecting telomeres) can promote genetic instability – a common characteristic of cancer cells that sees a higher tendency of mutations during cell division. This drives the development and progression of a kind of blood cancer called chronic lymphocytic leukaemia in mice.

To our advantage, these mutations also render cells particularly sensitive to a drug called pyridostatin, which stabilises specific DNA structures (G-quadruplexes) that are more likely to form in unprotected telomeres. This could represent a new opportunity for targeted therapy in people who have mutant POT1-positive chronic lymphocytic leukaemia.

If you could time travel to any period in history, which would you pick?

I have always wanted to go to the Middle Ages (although I would not want to live at that time permanently). During Christmas time, there are a lot of Christmas markets in Germany, and some of them have medieval themed stands and vendors dressing up like people from that age. These markets were always more interesting to me than the normal ones.

If you
were omnipotent for the day, what is the first thing you would do?

I guess I would grant everyone else one wish, thereby multiplying the power (right after I ensured that my family and friends will live long and happy lives).