Tuesday, 19 July 2011

A break from blogging

The Stuff of Life is taking the rest of the summer off to spend time with the kids, but will be back!

Friday, 8 July 2011

Huntington’s disease – genetic testing, children and hope

Undergoing a genetic test can be a blurry game of statistics. The results may provide an estimate of your disease risk, but certainties are few and far between. For Huntington’s disease the numbers are painfully simple. The gene has a high penetrance so, without further medical advances,  if you’ve got the gene then you’ll get the disease.

I spoke to Angela, whose mother has Huntington’s, as did her mother before her. Angela blogs about her experiences and was kind enough to answer my questions about genetic testing and trying for a baby with Huntington’s in the family.

How did you decide whether to test for the HD gene?
I found out about HD being in the family when I was 16 or so. From the second I found out, I never wanted to know whether I carried the gene. I couldn’t see what good would come with it, but literally one day something changed inside me and all of a sudden I wanted to know. It wasn’t for one reason specifically, it was everything. I was starting to settle down – I’d met my husband, I’d started my career, I’d bought a house... Everything was falling into place and I just wanted to know whether or not I carried the disease. The change was so sudden and so complete, it was not a difficult decision. But I did sit on it for a year before I approached anyone about arranging a test so that I was sure that it was what I wanted.

How did you feel when you found out you have the gene?
When we walked out of the clinic, I was devastated and could barely hold myself up. I felt utterly defeated and I just could not imagine how life would continue. But it did. I was back at work the next day, we started planning our future, a big holiday, our wedding, our house together, our plans for children… I started reading lots of websites trying to find answers. I got hooked in with research projects at the hospital and through the HDA. I did a few fundraising events for the HDA. I wrote my blog and met new people. I threw myself back into our lives and our future, and each day, it got easier. There were bad days for a long while but not really anymore. Now, I think sometimes we do push ourselves maybe more than we had before in case we don’t have as long as other couples but generally we just get on with things. And other than the struggles we have had with starting our family, we have a good life. We are happy. And I don’t see it as being inevitable that I will get the disease even though I carry the gene. I am ever hopeful for a cure, that’s why I do everything I can to raise awareness via interviews and the blog, and take part in research projects.

Can you understand people who don’t want to find out?
I can totally understand. That was me for a long time. People need to work out their own routes and what works best for one person may not be the answer for someone else.

What about trying for children?
We chatted through all the options. Preimplantation genetic diagnosis (PGD) IVF offered us the route to have a child that was genetically related to both of us, without passing on the risk of HD. We both wanted to protect our children and our future descendants from a disease that can have such a devastating effect on health and family lives. PGD IVF works for one fifth of couples and we hoped to be one of the lucky ones.

PDG is often blithely referred to as the answer to genetic disease, but your experience has not been straightforward.
We tried PGD IVF twice. It didn’t work for us. My body was excellent at producing numerous eggs but they just didn’t cope well with the IVF process. We’d start off with almost 20 eggs and one by one, they’d fall by the wayside, struggling to fertilise, to develop or to live through the biopsy. At the end of both cycles, we had one egg left that was HD-free and suitable for transfer although for both cycles. However, both of these eggs were poor quality and did not become a pregnancy.

Talking to the embryologist at our first clinic, and our doctors at the next clinic, my eggs just weren’t responding as they should. There was nothing they could do to boost their quality, and considering how poorly they had responded, we were lucky to have got as far as the transfer on both cycles. One of our doctors at the first clinic said we should just continue with the PGD, but we needed something different.

We were acutely aware that I wasn’t getting any younger and that HD may shorten how much time we have. Egg donation offered us new hope. Keeping me out of the initial process meant no risk of HD, better quality eggs, and a 50/50 chance of success. Yes, it would have been lovely to have been genetically related to our children but this way I still get to be involved almost from the very beginning. Genetics didn’t seem to matter anymore.

It may become routine in the future for the entire DNA sequence of every newborn baby to be determined. What do you think we should do with the information about HD status?
I would hope that it could be kept for the child to decide – after all they might not want their parents to know or they might not want to know themselves. I guess if it could affect their health before they were 18 years old and something could be done to help, they could find out when they were younger.

Do you think PDG IVF should be restricted to diseases such as HD that are serious, due to a single gene and have high penetrance (ie if you’ve got the gene you get the disease)? Or should it become more widely available in cases where having the gene does not mean the disease is certain?
I don’t think anyone can make that decision except the people involved themselves. All the options should be made available to people so they can make their own choices. But I do think that egg/sperm/embryo donation should be more widely discussed and encouraged - our first clinic was very dismissive of egg donation and advised us against going down this route. But it gives people a chance to have their own child and minimise the risk of genetic diseases, with a much higher chance of success.

Would you want to have your own DNA sequenced to learn about other disease susceptibilities?
I don’t know. It would depend on what support was available once I had the sequence. If there were ways we could prevent diseases occurring or research programmes to get involved in then I can see there are advantages of finding out.

What are your hopes for the future?
I hope for a cure for HD. I hope for a happy and healthy life with my family. I hope our children will understand the decisions that we made on their behalves, and I hope they too will lead happy and healthy lives, free from HD.

On 14th February of this year Angela announced on her blog that the egg donation had succeeded and she was pregnant. Two days later she wrote:

We can look at each and say "We've stopped it. We've stopped Huntington's." And that thought alone is so powerful it consumes me. Our children, their children, their children, their children, their children... Descendants who we will never meet, but people whose lives won't be affected by Huntington's.

Many congratulations Angela!

Wednesday, 15 June 2011

Role Models in Science

As a 15-year-old I could have specialised in either science or humanities. It was immersion in the words of science writing greats, combined with first-rate maths teaching, which tipped the balance. Richard Dawkins, Stephen Jay Gould*, Mr Stanbrook the head of maths: none were women, but that didn’t matter.

My ambitions were not dampened by my gender; I was inspired to do science by extraordinary scientists. I had been brought up to believe that being female was irrelevant to career choice. (Maybe my mother was a role model due to my gender neutral childhood – I grazed my knees and hated pink). On the brink of science A-levels I owned my future and had no need for role models that were particularly like me.

I went on to a science career – a PhD followed by work in the biotech industry. I don’t remember being hugely disadvantaged by being female. I do recall feeling uncomfortable by my clear minority status at bioinformatics conferences, but sticking out in a crowd has its advantages too.

And then I had kids. Suddenly my gender mattered very much. Neither my husband nor I wanted to battle with two full time jobs, day-long childcare and weekends spent catching up with household chores. So I gave up my science job. It was heartbreaking. I cried. A lot.

I was offered part-time work but didn’t feel I could do my job (and commute) in the hours my baby would be happy in childcare. He may well have thrived in nursery, but my resistance was belly-deep and frustratingly refused to submit to feminist reason. (And this is not to imply that working mothers are insensitive to their children’s needs – we must each do what feels right for us). It was the best decision for the family as a whole, and because I am now based at home we enjoy a relatively relaxed, spacious existence.

I still needed to work, so I started my own business, working locally and intensely for about 12 hours a week. I choose my working hours (term-time only) and the job does not overspill into the rest of my life. The downside is that I no longer work in science. Scientific careers do not easily lend themselves to such plasticity and school based schedules.

Despite women’s progress, the well worn roles of woman=caregiver man=breadwinner remain too easy to slip into. Although I could “choose” whether to stay in science or leave, it didn’t feel much of a choice. Science careers (along with other interesting and challenging jobs) reward long hours, and those with caring responsibilities are marginalised as a result. There is still the inbuilt assumption that scientists have someone else taking care of their children. The workplace needs serious restructuring - both men and women should to be freed to share the joys, rewards and challenges of science and the home.

In order to soften the blow I have been telling myself I am on a career break. And now, five years down the line, the kids need me less and small windows are appearing in which I can start thinking science. The online world is a wonderful opportunity for those outside the scientific establishment to participate whilst the kids are asleep upstairs. I’m enjoying riding the wave of excitement in personal genomics, once again part of an intellectual bubble, this time from my sofa.

In two years time both my children will be at school and I may even work out a way to earn money from science. By then I will be approaching 40 and I’m aware there will be afterschool care and holidays to contend with for many more years.

So at this stage in my life I need role models. I need women to show me that being older does not mean you can no longer achieve. I don’t need free-range young women unencumbered by children. Nor am I inspired by peers who have managed to combine family and career in a way I have not, although hats off to them.

I need trail-blazing birds with a few wrinkles who are singing louder than ever. I want those who have the maturity, wisdom and breadth that come from living. I need to feel that the scientist inside me has not died forever and there is plenty of time to fulfil her teenage dreams.

Here are my role models. Ladies, I salute you all.

Do you use social media to stay up to date whilst on a career break from science? I am contributing a chapter to the book “Surviving as a women in science” and would love to hear your experiences - elaine dot westwick at googlemail dot com.

*Breaking news: it looks like as well as writing beautifully he may have made things up

Related posts:

Sunday, 5 June 2011

Cambridge BioResource - donating your DNA to science

Last week I contributed a finger of blood to the Cambridge BioResource project. The DNA extracted from my sample will live in a 96 well plate alongside the genetic material from 10 000 other local donors. Together, we form a smorgasbord of genetically distinct volunteers from which researchers investigating human health can pick and choose. In this post I will explore science behind the resource, discuss the ethics of returning data to participants and reveal what bit of my DNA I'd really like sequenced.

With the needle in my arm I spoke to the resource coordinator, Sarah Nutland, who has been involved since the resource was conceived six years ago. My initial questions concerned the nature of the data that would be derived from my sample.  In particular, I was keen to find out if my full genome sequence would be determined, or if analysis was restricted to more sparse genetic regions (genotyping). Until recently, full sequencing would not have been financially viable, but technological advances now make it a question worth asking.

I was surprised to learn that no genetic information is initially extracted from the volunteers’ DNA. Instead, sequencing is driven by each scientific project. If a research team are studying a particular region of DNA, then that region is genotyped across the panel of samples. The resulting genetic data is used to pool individuals, along with criteria such as gender, age and disease history. Scientists then have the luxury of choosing research subjects who fit their experimental design perfectly.

The power of the resource comes not from the high number of volunteers in each study (typically fewer than 100 people are involved), but from the diversity of the genetic potpourri from which participants can be picked. The bigger the resource, the more likely there will be enough people with the genetic makeup and characteristics required for each investigation.

There is a plan to double the number of volunteers, in part by recruiting patients suffering from a range of long term conditions. Links are being made with disease specialists and a recruitment bus will soon swing into action visiting GP surgeries to harvest donations.  It is hoped that the involvement of patients will also inspire donations from their healthy acquaintances, keen to help out.

I have always been wary of taking part in clinical trials, valuing my fully functioning biology too much to risk ingesting pharmacological unknowns. But the types of experiments run by the resource are at a much more basal level. They examine the nuts and bolts of molecular biology, acting more as a prelude to the drug discovery process rather than an investigation of nascent drugs themselves. As a result, volunteer participation tends to be straightforward – in many cases blood and a signature are the only requirements. There are experiments  which involve a bigger chunk of time, but participation is always optional. Sarah says that once a volunteer has completed their first study and realise how little is required they are likely to return for another, flush with the glow of donating to a good cause.

At this stage in the conversation the needle had been removed and my two-year-old had fallen asleep on my lap. He had been fussed over by the nurses and was now sleeping off a three-pack of custard creams and a beaker of orange juice the size of his daily fluid intake. As he snoozed, Sarah told me how the resource had been set up.

The lab she was working in, headed by John Todd, was using genetics to probe the biology of Type 1 Diabetes. The experiments needed human DNA, so lab members and clinical staff rolled up their sleeves. When they needed more they asked colleagues in neighbouring labs. Soon it became clear that collection needed a formal footing and BioResource was born.

Ethical considerations underpin the design of the resource and determine which individual studies gain approval. Volunteers are not given any details about their DNA sequence, and only studies where it is ethical to withhold this information are sanctioned.  Even the project researchers can only access data tied to their research subjects, rather than across the whole panel of volunteers.

Although no information crucial to the health of each individual is generated, the studies still output genetic data I’d be very interested to learn. For example, a recent paper in Neuropsychologia used the resource to study how differences in the serotonin transporter gene affect the brain’s response to emotionally laden pictures. There are two flavours of the gene’s controller, short and long, your personal combination seems likely to influence how you respond to stress, including your predisposition to depression. Having been touched by the black dog in the past, I’d love to know my serotonin uptake inhibitor type (and I’m not the only one interested). As a rational scientist, I understand that the genetic association is swimming is in caveats and uncertainties, but, on an emotional level, I’d still like to know.

According to the paper’s lead author, Elisabeth von dem Hagen, no volunteers requested the information, and she points out that the pseudo-anonymisation procedure means that the scientists themselves were ignorant. “As researchers, we were blind to an individual’s genotype. It was only once we had completed data collection for the study that the BioResource panel released genotype information to enable us to complete the analysis. At that stage, participants have been anonymised by number so the genotype never gets released together with a name. This procedure also ensures that our data collection and analysis is blind to genotype and can’t be biased in any way.”

As the cost of sequencing falls, I wonder if a point will be reached when it will make financial, logistical and scientific sense to read full genome sequences, rather than running genotyping each time a study is initiated. However, the ethical issues that the resource now neatly side steps will then be unavoidable – what to do with actionable genetic liabilities uncovered along the way. Perhaps by then there will be parallel advances in clinical genetics and everyone, not just those volunteering for studies, will be having their DNA sequenced.

The project has a very Cambridge focus – you need to live near the city not only to donate but also to exploit the resource, physical proximity of subject and researcher being key. (Although if you can’t face battling with hospital parking spaces they will send a nurse to you). The metropolis that is Addenbrookes is very much the beating heart of the resource. DNA sequencing takes place on the site, many of the research groups are based there and Addenbrooke’s staff still make up a significant fraction of volunteers.

Due to the project’s success, bioresource envy is widespread, and Oxford and London are looking to start similar banks. Each would encompass volunteers and researchers from their immediate locality and the three centres could pool samples to enable work on rarer genetic variants.

If you live in the Cambridge area then take the time to visit the BioResource website and browse the wonderful science it sustains. Consider supporting basic medical research yourself - the commitment is small and, at some future point, you may benefit from discoveries made possible by your own unique contribution.

von dem Hagen EA, Passamonti L, Nutland S, Sambrook J, & Calder AJ (2011). The serotonin transporter gene polymorphism and the effect of baseline on amygdala response to emotional faces. Neuropsychologia, 49 (4), 674-80 PMID: 21167188

Related posts:

The impact of a genetic diagnosis
Finding out you are a cystic fibrosis carrier

Sunday, 22 May 2011

The impact of a genetic diagnosis

Deciphering developmental disorders (DDD) is an exciting new project run by the Sanger Institute in partnership with NHS genetics clinics. It aims to use sequencing and microarray analysis to diagnose children with developmental problems.

I was struck by the impact a diagnosis has on the families involved and was drawn to a quote on the project’s home page from Beverly Searle, CEO of Unique (Rare Chromosome Disorder Group):

Over many years I have witnessed the frustration and heartache of many families for whom a reason for their child's developmental delay has not been found....more recently I have been delighted to see the relief and joy of other families on receiving a diagnosis

I asked Beverly if she could suggest someone to talk to and she put me in touch with Jane Gregory, whose daughter Chrissy was diagnosed using microarray analysis. Here is our conversation:

Tell me about Chrissy

We didn’t know anything was wrong at first but in hindsight the signs were there at the start. Chrissy’s suck was weak, she vomited up all her feeds and did not gain a healthy amount of weight. Her head was floppy and her developmental milestones were late. She started having epileptic seizures at about ten months and terrible head-banging screaming outbursts.

There was a gradual realisation that something was wrong, I kept badgering our doctors but they treated me like a neurotic first-time mum. My fears intensified when I compared Chrissy to other babies of the same age, and realised how far behind she was. However no one took my fears seriously until I was pregnant with my son when Chrissy was about a year and had started having epileptic seizures. Initially I thought the long difficult birth had caused Chrissy’s problems then I wondered if the whooping cough vaccine had contributed.

Chrissy is now 27 and has moderate/severe learning disabilities, epilepsy, severe autism (only diagnosed five years ago, coincidentally - the same year as the chromosome abnormality was found) and challenging behaviour. She also has days where she is absolutely adorable, funny, affectionate and compliant. She is in an independent hospital funded by the NHS for assessment and treatment to try to stabilise her moods and find a better treatment regime. She comes home every weekend.

How did the array analysis happen and what did you learn?

The array analysis came out of the blue. Chrissy had been seen regularly by geneticists at Great Ormond Street and when she was 14 they asked if we wanted to take part in a research study looking at the ends of chromosomes in people with unexplained learning disabilities. Nothing was found and we forgot all about it. I tried to come to terms with the fact that we would probably never know the cause of Chrissy’s problems.

When Chrissy was 22 I received a letter out of the blue from Great Ormond Street. It said that our DNA had been tested for another research project, also looking at unexplained learning disability, this time using different technology – microarray analysis. An anomaly was found (1q21.1 microdeletion) and it was thought to be significant enough to be the cause of Chrissy’s problems.

How did you feel when you found out?

At first I was thrilled because I had been searching for answers for years. Then, when the implications sunk in, I was concerned that it may be hereditary and wanted to know if future generations were at risk. It turns out that the microdeletion was de novo – spontaneous. Mine and Chrissy’s dad’s DNA were normal.

What has been the impact of the results?

The results and the autism diagnosis have changed the way that I see the future. The two are interchangeable in some ways. Now I can finally tell people why Chrissy is like she is – “She has autism and a rare chromosome disorder”. It helps me to be able to explain it and people ‘get it.’

I think it has given us more leverage to get the services Chrissy needs. Health professionals accept that people with a rare chromosome disorder can be very complex but we have had a huge battle to get Chrissy into hospital. I have battled for services throughout Chrissy’s life and it is exhausting and demoralising at times. Three local authorities have been rowing over funding for Chrissy’s care for about three years now and I have recently made a formal complaint.

Knowing that Chrissy has autism has helped us to support her more effectively. We know that 1q21.1 can be associated with heart and other organ defects. We were able to get Chrissy checked and, thankfully, she is fine.

It is hard not to dwell on how much easier our lives would have been if the cause of her problems had been found when she was little. I had a book published about our experiences ‘Bringing Up a Challenging Child at Home’ and had articles published about different issues we’ve faced over the years in the Daily Mail, Woman’s Weekly and Woman among others.

Have you made any connections with other families with similar disorders?

I have made lots of connections through Unique and on Facebook. There is a Facebook group for 1q21.1 microdeletion. I have also made connections with other families affected by different rare chromosome disorders.

It would have been such a relief to have been able to do that when Chrissy was little. There is a particularly wide range of effects for people with 1q21.1 microdeletion – some people present with no problems at all, others, like Chrissy are more severe, but there are some characteristics shared by many - neuro-psychiatric and behavioural problems, autism and feeding problems in infancy.

Why do you think these kinds of studies are important?

These studies are important because a diagnosis or cause for a child’s problems can make a big difference for families. I felt terribly isolated when Chrissy was a child and even felt out on a limb among other families that had learning disabled children. Some of them were judgemental about Chrissy’s challenging behaviour.

I felt stigmatised, as if I were to blame, and felt that I’d failed as a parent. I didn’t get the support I needed until I had a breakdown when Chrissy was six, and thereafter services were patchy, particularly when we moved to different areas. Having a medical label or a cause for your child’s problems helps families to access support and health services much earlier.

Psychologically, if I had known what was wrong, I wouldn’t have felt like such a bad parent or devoted so much time and energy searching for answers or cures. (An example is the gluten and casein free diet that caused Chrissy to become anorexic.) I believe that I would have enjoyed Chrissy and her siblings more and the effects on the family may have been less drastic. Chrissy’s siblings had to grow up too quickly and saw their older sister have prolonged violent self-harming outbursts that their distressed mum didn’t have enough anything like enough support to cope with.

Also, very importantly, if parents are carriers of a chromosome abnormality, they need to know, as it has huge implications for the health of their other children and wider family. I believe that in situations like ours everything needs to be done to pinpoint a cause. I remember Chrissy’s GP saying “a diagnosis wouldn’t change anything.” I hope GPs and other health professionals are educated in the importance of a diagnosis these days!

Is there anything else you would like to add?

After years of searching for answers, to the point of obsession, the results of the microarray test changed our lives. Further research into these rare conditions continues and I hope that we will eventually gain more insight into Chrissy’s genetic disorder and be able to offer more effective support and interventions. She is the oldest person diagnosed with 1q21.1 micro-deletion as far as I know, and the more we learn about Chrissy the more info, help and support we can offer families with younger children who face similar problems.

Mefford, H. et al (2008). Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes New England Journal of Medicine, 359 (16), 1685-1699 DOI: 10.1056/NEJMoa0805384

Related posts:

Finding out you are a cystic fibrosis carrier
The power and influence of newborn genetic testing

Monday, 9 May 2011

Finding out you are a cystic fibrosis carrier

A couple of weeks ago I had the pleasure of chatting the Genomes Unzippped bloggers on the sunny terrace of the Sanger Institute. Luke Jostins let slip that his personal genomics results held a few surprises, not least that he was a carrier for cystic fibrosis (CF). He has yet to write about the results in detail, so I took the opportunity to interview him about his CF carrier status.

Had you any prior indication that you may be a CF carrier?

No, I have no family history of CF at all.

What was your reaction to finding out?

At first, I overestimated how common this level of risk is. My initial reaction was "well, everyone has something wrong with them". It was only when I started talk to other people, and then to my clinician, that I realised that this was a relatively serious situation.

In retrospect, I am relieved that I know. The chance of my children or other family members developing CF is still relatively low, but at least now we can be aware of the possibility.

What particular mutation do you carry?

The mutation is G551D. There is some evidence that this mutation has a slightly less severe a phenotype then the more common F508del [1], but it is still one of the most severe CF mutations. One positive about the G551D mutation is that there is a specific drug in development, Vx-770, which is specifically designed for CF patients with this mutation, and has showed strong promise in trials so far [2].

Has anyone else in your family been tested as a result?

My parents have been, so we know which side of the family it comes from. My brother has yet to decide.

Are you pleased to have found out at this stage in your life?

I am certainly pleased to have discovered this before I started a family, and it is certainly preferable to only finding out when your child develops CF. If and when I decide to have children, I will be in a good position to decide what to do next (and, as I mentioned before, the chance of a partner being a CF carrier as well is still relatively low).

How do you feel about publically sharing this information?

I am very committed to the idea that genetic information is not something to be scared of, and definitely not something to be ashamed of. If other people want to know about my genetic risks, or can learn something from my DNA, I would be delighted.

The only issue is whether this would impact my family, but I have discussed the Genomes Unzipped data release in detail with them, and they are very happy for me to share my information.

Do you think CF carrier status should be routinely tested in newborns?

I think carrier screening for a host of Mendelian genetic diseases should become routine as soon as the cost falls enough to make it feasible.

Many thanks Luke!

[1] McKone, E., Emerson, S., Edwards, K., & Aitken, M. (2003). Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study The Lancet, 361 (9370), 1671-1676 DOI: 10.1016/S0140-6736(03)13368-5

[2] Dolgin E (2011). Mutation-specific cystic fibrosis treatments on verge of approval. Nature medicine, 17 (4), 396-7 PMID: 21475213

Related posts:
Does having children affect views on genetic testing? - An analysis of GUZ survey data
My cancer scan results
Genotyping journalists
Questions to ask before buying an internet genetics test

Wednesday, 27 April 2011

Genetic kinship

As I run through the fields I feel a profound connection with the earth. I concentrate on my form: lengthening forward and up, striking with my midfoot so my bent knee transmits the force of each stride. My feet drum the hardened mud, kicking up puffs of dust.

I settle into the rhythm of the run and sense my ancestors treading the same paths. They ran to communicate messages and, in distant savannas, to hunt down prey, while I run for pleasure and fitness. Their lives were very different from mine but their bodies, minds and thoughts felt the same.

I am tied to my ancestors by our genetic past. The differences between us are a sniff in the sweeping plains of evolutionary history. While running, they too would have been calmed by the green brown blush of grass and trees. They would have heard the lark, smelt the mud and been shocked by the sudden white of spring blossom.

The connections run deeper still. My muscles are powered by the breakdown of sugars, a primeval metabolic pathway shared by many life forms. A key step is the reaction catalysed by GAPDH in which a sugar derivative is loaded with a high energy phosphate group.

Plants, fungi and yeast contain GAPDH, not to drive their legs but to fuel their growth. The GAPDH in the wheat of the fields I run through is around 80% similar to my own, the malarial parasite that has so plagued my ancestors shares 59% identity, the mosquito 71%.

Genomes weave a story through all life; pointing to shared origins, the inconsequence of our own brief identities and the continuity of DNA. Running is a celebration of biology, my cells are alive and my mind freewheels. I feel a connection with the twists of evolutionary past that define my present and with the living things I pass on my way.

The pictures are the Cambridgeshire fields where I run.

Monday, 18 April 2011

Introducing Wilma (Women science bloggers database)

Go to database

In life BC (before children) I managed a scientific database group, so when I saw Martin Robbins’ list of women science bloggers I had an urge to organise it.

The database format allows the list to be kept up to date and enables searching.  I’ve taken the opportunity to add two new fields – geographical location and scientific subject area. Please enter this information if you are already on the list. Add yourself if you were missed off the first time.

The new fields include a broad subject area category (e.g. biological sciences, physical sciences) and a free text box for more specialist subject area (e.g. genomics, geology). I plan to turn the free text box into a drop down menu by using the entries to build a controlled vocabulary, this should make searching easier.

I hope having a current and comprehensive list of women science bloggers will be useful:

1.      For science bloggers – to find others in your subject area/location, particularly if  you blog about an unusual topic or are from a poorly represented country
2.      For readers to find new bloggers
3.      For the media to contact specialists
4.      Finally, as Martin said, as a celebration of women science writers

I welcome feedback – please use the comment box below.

Why is the database called “Wilma”? Because “women science bloggers database” is a Twitter mouthful and "FemSciBlogDB" is too geeky. Wilma is from Wilma Flintstone, one of the names I used to test the database. I’m sure it could be used to make an acronym....

An idea for a future project – include all science bloggers in the database and a field for gender. The search function could then be used to recreate the women’s science bloggers database.

A special thank you to Martin for entering the data in standard format that made it easy to parse.

Tuesday, 5 April 2011

Diversity in science blogging: a call for action

Getting to last night's science blogging talkfest was a struggle (kids to a neighbour at 5pm, passed to a childminder at 6pm), but it was worth it. I wrote this post on the train back to Cambridge.

The topic was diversity in science blogging and this is my take on the evening.

The problem: the science blogging community is not representative of society. There is a disporportionately high number of bloggers who are male, young, well educated, middle classed, London centered, white, atheist, left wing....

Why this is a problem: all types of people need to be part of science conversations - tax payers fund research and the results effect everyone.

The discussion revolved around gender, so this is my focus, but that is not to say that other types of inequality do not need to be addressed.

The problem can be split into two areas:

1. There are not enough women science bloggers
2. Women that do blog are not as celebrated as their male counterparts

Many reasons for these imbalances were discussed:
  • Aggressive blogging environment
  • Unconscious biases against promoting women
  • Women less likely to promote themselves
  • Women tending to blog less frequently than men, maybe because of lack of time - high profile blog networks require frequent posting
  • Less women in science careers

I certainly associate with low frequency posting. I currently blog every one to two weeks, which is the right balance for me and my family. There was a brief discussion of how women tend to spend less time socialising online, which was countered by the mention of huge communities such as mumsnet and British Mummy Bloggers. I'd just like to add, as someone with a toe in the mummy bloggers pond, that writing a science blog post is much more time consuming that writing a mummy one, mainly in terms of the research and fact checking.

What can we do about it?

Some things, such as increasing the number of women in science careers, equal sharing of childcare and domestic tasks and the bias against promoting women, will involve long-term shifts in society. They need discussion, but I want to think here about more immediate solutions.

Improving the profile of existing bloggers
  • Existing high profile bloggers and blog networks could offer a platform to less well known bloggers
  • Creation of new blog networks to gather together up and coming bloggers
  • Job sharing - if blogging frequency is a problem then recruit two bloggers rather than one. I like the way blog posts are scheduled on the Last Word on Nothing network.

Encouraging more scientists to blog
  • Give space on existing blogs for scientists that don't normally blog. For example, Body in Mind feature one off posts from a range of academics (often recently graduated PhDs)
  • Introduce new bloggers on twitter (there was a nice comment from someone at the Science Online 2011 women bloggers session where a higher profile blogger was thanked for a valuable introduction)

What I plan to do
  • I'm currently in the process of building a database to store Martin Robbins' women science bloggers list - this will make it easier to search, update and add new entries (update - it is here)
  • I will invite people from the database who blog on the same topic as me, and scientists who don't normally blog to guest post on my blog.
  • As database administrator I will send out a tweet to welcome any new bloggers. Please pass it on.

Any other ideas?

Update - other blog posts on the evening:
Confessions of a (former) Lab Rat  Richard P Grant
Contagions - Michelle Ziegler
I Science Andrew Purcell
ABSW Andrew Purcell
The Guardian Martin Robbins
Wilma - Womens science bloggers database

Sunday, 3 April 2011

Flash fiction - overturning stereotypes


This week my blogging mojo has been directed towards entering a flash fiction competition in a local magazine, the Cambridgeshire Agenda. Each day there's been a different picture to write about in under 100 words. My entries are follow the picture below, but first, a little on what made me cross about the images chosen. Read the stories first if you don't want them spoilt.

I'm tired of seeing women portrayed as beautiful objects, sadly the competition perpetuated this view. Two pictures of women, two pictures of floaty young things in pretty dresses.

I didn't want to write about passive victims, so my women are powerful – an unrepentant murderess and an inspirational scientist. I hope the story about the experiment on the grass will confront automatic assumptions that professors are male.

My other stories reflect somewhat my current interests. The little boy story comes from my recent enjoyment of the books of Dorothy Rowe, who talks about “finding the person you know yourself to be”, which is often hidden by voices from the past.

And I’ve also been intrigued by mindfulness. My dolly story took inspiration from the practise of really being present with an object – thinking about who made it and where it has come from.

Exhausted, ecstatic, fulfilled, she lay back against the bank. Her lips were still warm and moist, she savoured the release that flooded her body. 

In her mouth was the lingering taste of blood, from where a flash of tension had seeped into her otherwise cool demeanour.  Her jaw had clenched as she squeezed the trigger, catching the edge of her tongue and piercing the flesh. 

Behind her the hot butt of the discarded gun rested in the small of her back. 

He had gone. She was free.

Professor Walden set the observation equipment out on the grass.

An audience of local children gathered at a distance, drawn by the stranger.

The professor smiled, offering stickers and football cards, encouraging the children closer, trying to explain the experiment. The crowd became bolder reaching out to take whatever could be spared.

She returned to the jeep with the empty equipment case, the children swarming around noisily, comparing their gifts. One had her pen, another her shoes.

As dust from the jeep’s tyres settled a girl lingered longer than the others. That night she would dream of changing the world.

“There’s a good boy” said Granny.

“Enjoy yourself while you are young” said Barbara next door.

“You can do anything if you work hard enough” said Mr Hugo.

“Go away” said little Jake.

“Listen to me” said Mrs Montgomery.

“No” said Mum.

“This is our little secret” said Mr Masters.

He blocked out the voices and looked.

Inside was the person he knew himself to be.

“Here, drink it”, she pushed the vial into her brother’s hand.

He glanced up, “At least tell me what I can expect”.

“10 million years” she replied. “Plus or minus the odd decade”.


“Wherever you are at the time that the compound is activated. That spot, 10 million years into the past”.

Looking into her eyes he knocked it back, not flinching at the taste.

“Just no more embarrassing disappearances, alright. How long until activation?”

“You have a good few hours yet”.

He pushed past her, grabbing his bag for orchestra practise, slamming the door as he went.

It was 23 years since Carol found out where all the money had gone.

Every day she sat in line, the roughness of her hands scratching against soft new plastic. Sometimes she was on heads – pushing glass eyes into sockets, other days it was bodies – limbs clicking into torsos.

Their chubby faces had changed over the years. When she started they were all pink and pretty, now there were more boys and coloured ones.

Some days she would laugh with the others, other days he would occupy her thoughts. She knew she would never forgive.