Women in Science 2021

International Day of women and girls in science was proclaimed by the United Nations and is another step forward in combating stereotypes that undermine gender equality also in science.

To celebrate International Women in Science Day 2021,  HHT Onlus are happy to spend the day in the company of Dr. Anna Sbalchiero , a molecular biologist, very active with regard to Hereditary Hemorrhagic Telangiectasia and to whom they asked some questions.

What triggered your passion for science in you? 

I don’t remember a particular event that triggered a passion for science in me. Rather, I think I have always had a particular predisposition for scientific investigation.

As a child I spent hours under the microscope, given to me at my request, to observe insects to understand how they were made. In my room there was never a lack of a herbarium that I enjoyed making with my friends, carefully collecting and classifying all kinds of plants. Searching for the secret that explained the mystery of life on Earth, this was my goal. I was not so fascinated by literature or history as by science and mathematics. I observed, dissected, collected, cataloged, did a thousand experiments with my “little chemist”.

At school, it was during science hours that I found both a strong stimulus to my curiosity, and concrete answers to the questions I asked myself. I remember that, when we went to the laboratory, before each experiment, I liked to compare myself with my companions to hypothesize what would happen. At the end of the experiment it was established who had had the closest intuition to reality and there were not a few times that science left us speechless.

When it came to choosing what I would do when I grew up and, consequently, which university faculty to attend, it was natural to direct myself first towards Biotechnology and then towards the course in Molecular and Genetic Biology.

How did you develop an interest in HHT?

My interest in HHT was born by chance during my thesis internship for the achievement of the master’s degree in Biology at the University of Pavia.

Genetic diseases have always intrigued me a lot because they put you in front of the power of genetics, they make you understand that a small variation in the DNA is enough to produce a particular pathological condition that can also drastically affect people’s lives.

Hereditary Hemorrhagic Telangiectasia (HHT) is a disease about which much is known from a clinical point of view but little from a molecular point of view. Let me explain, to date the main symptoms and complications of HHT are known, as well as prevention and treatment techniques for some manifestations of the disease are available, but what happens at the molecular level is not yet known, i.e. the mechanisms with which which the anomaly in the DNA affects normal vascular development.

From a molecular point of view, therefore, for a disease like HHT one can “indulge” in research.

To give an example of how far the research is back, just think that there are still hundreds and hundreds of variants in the two main genes responsible for HHT of which it is not yet known if they are actually pathogenetic, i.e. we are not 100% sure that they cause the illness. This represents a great obstacle because a patient who has a mutation that falls into this category will not be able to have a certain genetic diagnosis of HHT and the “probable” diagnoses create a sense of uncertainty and mistrust.

In addition to the mere and basic study on mutations, many other more complex researches can therefore be carried out and I in particular, so far, have contributed to two studies that we will soon publish.

It was thanks to Professor Carla Olivieri, who for years has been studying, researching and following HHT patients as an expert geneticist, that I learned about this disease. Working closely with her has transmitted to me her passion, her complete dedication to study and research, but not only, also the care and attention towards patients.

Once my studies were over, I realized that I could not stop my research work, it was too important for me, there were still so many things to discover, every day I felt I belonged more and more to the world of research and I began to realize that this was what I liked and what I wanted to do.

How does your work impact the lives of HHT patients?

At first I would like to explain what a molecular biologist actually does because in the common imagination the figure of the biologist is mostly linked to the study of plants, animals and microorganisms.

The molecular biologist studies the information contained in the DNA and the effects that the variations that occur in it cause in the cell and in the organism.

In my case, the work takes place on the biological material that the HHT patient provides and is aimed at understanding more in depth how the variation contained in the DNA produces the patient’s pathological condition. Only a profound knowledge of these mechanisms, at a physiological and pathological level, can lead to the design and development of therapies, both general for HHT and more targeted for individual cases.

A more concrete and immediate contribution of my work on HHT patients is the mutation analysis on their relatives.

For the layman, since HHT is a genetic disease, that is, it is transmitted from generation to generation, doing mutation analysis means going to find out if the patient’s parents, siblings, children or grandchildren also have in their DNA is the mutation that causes HHT. This analysis, therefore, establishes with certainty whether family members are also affected by HHT and if they are at risk of developing vascular malformations in the internal organs. Knowing this, they can consequently undergo frequent clinical screenings to prevent serious complications and are aware that the variant in play can also be passed on to the next generation.

What difficulties does a woman who works in the scientific field face? 

Today, compared to the past, when women’s work in science was not even recognized, things have definitely changed. To remain in my field, in the 1950s Rosalind Franklin’s fundamental contribution to the discovery of the structure of DNA was eclipsed by that of her male colleagues and her work was not even mentioned when the three scientists (Watson, Crick and Wilkins ) were awarded the Nobel Prize for Medicine. This year, however, the first time in the history of this prestigious prize, the Nobel Prize in Chemistry was awarded to two women, Emmanuelle Charpentier and Jennifer A. Doudna, for the development of CRISPR-Cas9, a technique for genomic editing . An important milestone.

There still remains, for a woman, the difficulty, especially in Italy, of combining a career with a family, but this is a question that does not only concern the world of science. In my brief experience, I have found myself working with many women and this gives hope for a female future.

What message would you like to give to young girls interested in becoming scientists?

I believe that one of the most beautiful messages to girls like me who dream of becoming scientists was left by Rosalyn Yalow, Nobel Prize for Medicine in 1977:

“(..) we must believe in ourselves or no one will believe in us; we must nourish our aspirations with the competence, courage and determination to succeed; and we must feel the personal responsibility to make the journey easier for those who will come later ”.

If you are really driven by passion, don’t give up!

We hope that Anna Sbalchiero’s words can be a good omen and an example for all those young women who have love and interest in science. Thanks to Anna and to those who, like her, carry out their work with dedication and hope!

Interview by Antonella Maggio