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Mary-Teresa Moran is working on a research project into Gauchers disease at Addenbrooke's Hospital, Cambridge, where all her research costs apart from her salary, is being funded by the Gauchers Association. As part of her PhD over three years, she is investigating why some cells in a Gauchers sufferer are different from someone's who does not have the disease. Mary-Teresa shares here what is has been like to move to Cambridge from her home town of Claremorris in Southern Ireland, leaving family and friends behind.
Many may ask what made me decide to start a PhD in Cambridge? From an early age I have been fascinated by genetics and this grew stronger during my years as an undergraduate in Uni-versity College Galway which is loc-ated near the West Coast of Ireland.
In my final year at college I specialised in Biochemistry, where part of the course was to carry out research in a lab for 12 weeks. This was my first introduction to life as a research scientist and it was the deciding factor that after I finished my degree, I really wanted to do research on a longer basis.
I started looking for PhD positions. When I applied to Professor Cox, I knew that I would be working on a genetic disease called Gauchers disease but given the low frequency of the disease in Ireland, I had never heard of it before. There was a lot of reading to be done on the subject and no need to tell you I became extremely interested in the disease and the possibility that I might actually be doing research on it for three years.
I felt such joy when Prof Cox confirmed that I had the position and yet there was part of me that felt very frightened. More than anything I wanted this position and yet I thought what if I am a total disaster and research is just not for me.
Excited Yet Scared To Start Work
On 1 October 1996 I flew to Stansted feeling very excited and yet scared. It dawned on me then that I was on my own, starting something very new and not knowing many people in England.
When I walked into the lab the next morning these scary thoughts were banished when I met Prof Cox and Dr Paul Schofield; their kindness and consideration made me feel at ease immediately. The three of us chatted about the work I would be doing and I knew instantly that all the support I would need I would have. I went home that evening feeling totally exhilarated. I was so excited and could hardly wait to start my research on Gauchers disease.
That was one year ago and looking back, I have been extremely lucky. I knew that I was going to work using an extremely difficult technique which people can spend a long time trying to succeed to get to work. However under the superb guidance and patience of Dr Schofield and Prof Cox, we succeeded in this task and had some very interesting results within six months.
Part of my work has involved the isolation of RNA (ribonucleic acid) which is the messenger for DNA (deoxyribonucleic acid), the genetic information which codes for our genes so it can be translated into proteins or enzymes. These proteins and enzymes are the molecules which do the work of every cell in our body.
Every cell contains hundreds of thousands of genes - but only the genes that are used by a particular cell will make the messenger RNAs that are used to make proteins or enzymes characteristic of that cell, therefore giving each tissue its distinct quality.
Interesting Genes Found
My aim was to isolate messenger RNA from a normal tissue (this was to act as a control) and from Gauchers cells. This proved difficult as mRNA is very unstable and is degraded very quickly. We succeeded after many attempts.
Using a very new technique I have been subtracting the two mRNA populations. This allows me to examine the products of genes that are expressed selectively in Gauchers tissue. We have found some very interesting genes including ones which cause bone deformities in other diseases. We are currently working very hard to find the function of several of these important genes so that the cell pathology in Gauchers disease may be better understood.
People Make Discoveries Worthwhile
So far we have been very lucky with our research but it is meeting people who suffer from Gauchers disease that makes these small discoveries meaningful and rewarding. I have never met people with such willpower and determination. The kindness, generosity and appreciation that has been shown to me by Gauchers patients and their relatives has touched me deeply. It makes it such a motivation for me to get results in the lab that might yield information on this cunning and baffling disease.
All this work would not be possible if it was not for the Gauchers Association and I would like to express my deepest gratitude for all your support.
There is an old Irish saying Nil aon tintean mar do thintean fein which basically means that there is no place like your own home place. This is true in many respects but I also can say that after spending one year in Cambridge, I really feel happy here.
I know no one knows what the future holds for us but for me I cannot really see myself doing anything but research. The fascination, frustration, excitement it has brought and brings never ceases to amaze me.
I would like to end by saying a special thank you to Dr Schofield and
Prof Cox. Their kindness, patience, help and support given to me this past
year has been tremendous. Lastly to all Gauchers sufferers for your
generosity and gratitude extended to me: Go raibh mile a maith agat mo
chairde, which means thank you.
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Source: Gauchers News November 1997
© Copyright Gauchers Association 1997