Professor Alex BlakemoreI’m Alex Blakemore and I’m Professor of Human Molecular Genetics at Imperial College London. My path to an academic career has been an unusual one.

I did my first degree and PhD as the lone parent of three young children. Even getting into university at all felt like a miracle: due to family circumstances, I’d left school at 16 and didn’t have A-levels. When I began my studies, the oldest of my three children was still under six.

Of course, in those days there were no tuition fees and we had grants for living costs too. Most amazingly, Sheffield City Council also gave me free childcare so I could study. It upsets me to think that that support would not be there for a young mother today.

It was one of the scariest days of my life when I entered a lecture theatre for the first time. No-one in my family had been to university before and I felt as though I didn’t really belong there. The hundred or so students already there looked so happy, good-looking and confident. Aged 25, I felt old, awkward and dowdy in comparison. I thought I had made a huge mistake and was tempted to walk straight out again. Luckily I stayed and, when the nerves settled down, absolutely loved studying.

Alex's PhD graduation with her three children

Alex’s PhD graduation with her three children

Why genetics?

When I came to choose a subject to study, genetics was an obvious choice for me. My father had taught me about genes and chromosomes as a young child and I was fascinated. He was a nurse in a large hospital for people with intellectual disabilities. The staff lived in houses on-site and all the staff children (including me) took part in activities with the people being cared for – we went on trips to the seaside, watched “Carry On” films in the recreation room and put on Christmas concerts with the residents.

From a very early age, my father pointed out people I knew who had Down syndrome and explained about their extra copy of chromosome 21. He later taught me about Mendelian inheritance patterns. I wanted to be a scientist because I was interested in finding out the causes of things – I found it unacceptable that in most cases no-one knew or seemed to care about the causes of the profound disabilities of people I knew as a child.

Academic career

I had an amazing time at uni and still have some great friends from that time. After my BSc, I did a PhD studying, MCAD deficiency, an inherited disorder of fatty acid metabolism that causes sudden death of babies and young children. After initial pilots in Sheffield, I’m delighted that screening for MCAD deficiency is now offered to all newborns in the UK – MCAD deficiency is very amenable to treatment and babies lives are being saved. I’m proud to have played even a small part in the early work underpinning that.

Later, I had a postdoctoral fellowship from Arthritis Research, and then took up an academic post at Sheffield Hallam University. During that time, I married Robin (another geneticist) and had a fourth child, who brought much joy.

In 2001, I moved to Imperial College and around 2005 I started investigating a previously-unsuspected type of genetic variation – not just in the DNA sequence, but in the number of copies of each part of the genome. We had thought that everyone had two copies of each part of the genome (one copy from your mum and the other from your dad) but it turns out that we all have missing or extra bits in the genome. Much of my recent work has been in trying to figure out which of these copy number variations are harmless “normal” human variation and which might cause disease. If you would like to know more, there is a long webinar here to watch, which is summarised in this blog post,

I also work on the genetics of obesity and autism-related traits. I’m very lucky to have a great team of students and colleagues at the moment, so even when the work is challenging, it’s still exciting.

ALex Blakemore in her lab at Imperial College

Two ScienceGrrls having fun in the lab: Alex Blakemore with student Hanis Ramzi at Imperial College

Women, STEM and family life

I’m passionate about advancing the careers of women in science. In particular, I want everyone to know that it is possible to change direction and succeed even if your early life didn’t go in an orthodox way. I also want everyone to know that it is entirely possible to combine a happy and full family life and a STEM career – it’s sad for me to see young women opt out of research careers because they think they may have to choose between having children and work. I’m living proof that it’s not the case!

Alex Blakemore @aifbw