Working life: Eva Hoffmann
MRC Senior Non-Clinical Research Fellow Dr Eva Hoffmann is trying to find why a woman’s risk of having a baby with a chromosomal disorder – such as Down syndrome – increases with age. Here she tells us about her working life.
I started my own lab after quite a short postdoc – three years – when I was awarded my Royal Society fellowship. I undertook this at the MRC Genome Damage and Stability Centre, now embedded within the University of Sussex. I’ve been an MRC Senior Non-Clinical Research Fellow for four years and that’s really allowed me to do more blue skies research that is paying dividends now.
I’m interested in understanding how the information encoded in our genomes and chromosomes is transmitted accurately to the next generation. For human health this is very important because there’s a high level of pregnancy loss associated particularly with a woman’s age. Today, more women over 30 are giving birth than in past generations – in the UK, women 35 and older account for around 20 per cent of all births.
We’re trying to understand which environmental and genetic factors may influence why women are so susceptible to trisomic conceptions – where the presence of an extra copy of a chromosome can cause chromosomal disorders, such as Down syndrome.
Working with clinicians, ethicists and embryologists we look directly at human eggs and embryos to find genetic factors that might have influenced the transmission of chromosomes into the mother’s egg.
We also use model organisms, specifically mice and baker’s yeast, to look at genetic factors that may be similar across species.
My work is exciting and varied. I spend a quarter of my time in the lab and another quarter discussing project development. The rest is spent making sure we adhere to regulations and keeping up with the literature; we work with precious material and we’re looking across many different fields, from genetics to embryology and IVF. Quite often, I have to travel to get to material – eggs and embryos – that can’t be moved. I also visit collaborators to make sure that our protocols are aligned and we adhere to ethical and legal regulations.
I have a good work-life balance; I actively manage it and I think that’s the key. By seeing more women at the later career stages, in leadership roles and independent roles, I hope it will also filter down to the postdoc level, to show that it is possible to combine the pressures of for example having a family and having a successful research career.
The Human MeioMap Project
The MRC fellowship has allowed me to start a bigger project, the Human MeioMap Project. It’s a global consortium of more than 50 scientists. We’re trying to map genomic and genetic changes taking place in the human germline (egg and sperm cells).
The overarching aim of the Human MeioMap Project is to try and integrate environmental effects, lifestyle choices and general ageing factors. But to do this, we first need a basic understanding of which factors affect the transmission of genetic material.
We currently focus on age-related fertility deterioration, a complex disease that affects 20 per cent of women around the world. In women the transmission of genetic material, through a process called meiosis, starts during foetal development and then stops for decades until the cell is ready to mature and be released as an egg.
This ‘stop gap’ is thought to cause enormous problems.
From their mid-30s to the age of 40, up to 60 per cent of a woman’s eggs will have chromosome mistakes. By finding out what happens to chromosomes during this stop gap, we hope to understand what clinical biomarkers could be developed in order to assess whether women are at risk. We are also assessing the benefits of freezing eggs, versus the clinical risks associated with egg collection; with some companies offering egg banking to young female employees this is important from a societal perspective.
We work with industrial partners, like Illumina who develop genetic tests. One of the biggest achievements of our project is bringing together stakeholders who would normally be competitors, and gaining their trust.
We’re also aiming to develop tools for the clinic and the lab. An example is egg activation therapy; about a third of human eggs in the clinic fail to activate when the sperm fertilises the egg. We can activate a human egg chemically and then assess whether the activation process worked, taking the sperm and embryos out of the equation. Ethically that paves the way for a lot of different experimental approaches.
Doing genomics with model organisms combined with the clinical aspects, via our clinical collaborations, is a tremendous privilege. The fellowship has been a fantastic opportunity to move into a different type of research.
I’ve enjoyed interacting with so many fantastic scientists at various stages. When you look at all of the great scientists out there, they’re all passionate about their research and I think it’s incredibly important to have that passion.
We’re currently trying to integrate data from eight different clinics and platforms. It is going to be a massive endeavour from an ethical, clinical, informatics and statistics perspective, but it should allow us to stratify the data and translate the science back into the clinic to help patients with their reproductive choices.
As told to Isabel Baker
This article was originally published in the Winter 2014/15 issue of our Network magazine.
Listen to Isabel’s interview with Eva in the Network Winter 2014/15 podcast.