Researching together: from ideas to impact (CRICS seminar series on Innovation in Research Approaches)

The third monthly seminar of CRICS seminar series on Innovation in Research Approaches was held today.

Professor Ruth Northway and her team gave an excellent talk on ‘Researching together: from ideas to impact’. They presented their work on innovative approaches of how they worked together as a team of academia and people with learning disability, in order to generate research ideas, write proposals, conduct research and disseminate findings.

The seminar was well attended by staff members, students and people with learning disabilities whom Professor Northway has been working with.

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First patients diagnosed through the 100,000 Genomes Project

Genomics England has reported today that two families are set to benefit from ground-breaking developments in whole genome sequencing. Health Secretary Jeremy Hunt will today meet the first patients to be diagnosed with rare disease through the 100,000 Genomes Project. They will now receive effective, personalised treatment, as well as helping prevent future generations who share their DNA from suffering a life of uncertainty about similar symptoms.

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Newcastle University and Hospitals worked with Genomics England to analyse the genomes and validate the findings as part of the project’s pilot scheme. Read the full article on the Genomics England website here.

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Raising our hands to support Rare Diseases!

Rare Disease Day 2015

Tomorrow, February 28th, is Rare Disease day. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign primarily targets the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases. It is recognised in countries all around the world and this year will be held on 28th February (in a leap year it is held on the 29th February, a rare day).

The complex nature of rare diseases, coupled with limited access to treatment and services, means that family members are often the primary source of solidarity, support and care for their loved ones. The Rare Disease Day 2015 theme Living with a Rare Disease pays tribute to the millions and millions of parents, siblings, grandparents, spouses, aunts, uncles, cousins, and friends whose daily lives are impacted and who are living day-by-day, hand-in-hand with rare disease patients. Typically chronic and debilitating, rare diseases have enormous repercussions for the whole family. Living with a Rare Disease becomes a daily learning experience for patients and families. Though they have different names and different symptoms, rare diseases impact the daily lives of patients and families in similar ways.

Raise and Join Hands for Rare Disease Day

The Genomics Policy Unit, University of South Wales, and Telling Stories Understanding Real Life Genetics project teams work to educate health professionals about genetics/genomics and healthcare practice, and engage with the public about genetic/genomic issues in everyday life. Our Telling Stories website has over 100 real life stories from those affected by genetic conditions, many of which are rare. We are delighted to be supporting the campaign for Rare Diseases and to raise our hands for Rare Disease Day 2015.

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GPU & Telling Stories team members raise their hands to support Rare Disease Day 2015

 

You can show your support for Rare Disease Day by uploading a photo of you, with friends, families or colleagues, raising your hands to the Rare Disease Day website!

About Rare Diseases

A rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population. There are between 6,000 and 8,000 known rare diseases and around five new rare diseases are described in medical literature each week. One in 17 people, or 7% of the population, will be affected by a rare disease at some point in their lives, this equates to approximately 3.5 million people in the UK and 30 million people across Europe. In the UK, a single rare disease may affect up to about 30,000 people. The vast majority of rare diseases will affect far fewer than this – some will affect only a handful, or even a single person in the whole of the UK:

  • 80% of rare diseases have a genetic component
  • Often rare diseases are chronic and life-threatening
  • Rare diseases can be single gene, multifactorial, chromosomal or non-genetic
  • 75% of rare diseases affect children, and 30% of rare disease patients die before their fifth birthday
  • Rare diseases include rare cancers such as childhood cancers, and some other well known conditions such as cystic fibrosis and Huntington’s disease.

In Wales Rare Disease Day 2015 is being marked by holding an event at the Senedd on Tuesday March 3rd. Further details can be found on the Rare Disease UK website.

 

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Medical purposes or “purely for information”? The potential applications of non-invasive prenatal testing.

A paper by Deans et al., (2015) offers an alternative viewpoint into ethics considerations surrounding non-invasive prenatal testing (NIPT). NIPT has been developed to detect cell-fetal free DNA in maternal blood. NIPT is more accurate than current screening methods and does not carry the risk of miscarriage associated with invasive diagnostic tests that are currently used within the NHS. Some couples may seek NIPT in order to make important decisions about the future of the pregnancy or to prepare for life with a child with a particular condition. Deans et al., (2015) considers the possibility of NIPT being used by parents “purely for information”, rather than for medical reasons.

NIPT has been used for fetal sex determination “purely for information” purposes and has already been used to sequence the whole genome of a fetus. The paper suggests that women may associate a lesser risk with NIPT since the risk of miscarriage is removed, although both NIPT and invasive tests detect the risk of abnormalities in the fetus. If choosing a test “purely for information” purposes women may deem NIPT as an “easier decision”. If only offered invasive testing women may think twice due to the risk to the pregnancy. In their desire for information about the baby parents may oversee the implications of NIPT, and may be unprepared for unexpected adverse results. It is important that healthcare professionals counsel women in the same way for NIPT as invasive testing as both tests carry the same diagnostic implications.

NIPT offers the opportunity for testing the presence of multiple disorders and will have the ability to reveal adult-onset conditions. Whilst parents may cite “preparation” for testing for both child and adult onset conditions, Deans et al., (2015) highlight that if parents are screening “purely for information”, with no intention to terminate the pregnancy, then they have to consider that the child may not want to know their susceptibility to a condition. Should it be the parent’s choice to decide whether a child knows the course of their future? A child is likely to feel anxiety knowing that they face a future with a particular condition. Not knowing and continuing their life without this weight on their shoulders may be preferable-ignorance is bliss.

The cost of introducing NIPT into the NHS has been widely discussed. Deans et al., (2015) note that if used “purely for information”, rather than for medical reasons, then NIPT would have great cost implications for the NHS.

Once technology is simplified, Deans et al., (2015) predict that the demand for NIPT will increase. These advancements will allow endless possibilities of choice for parents, it may be difficult to determine where to draw the line and could result in parents testing out of curiosity, rather than for medical reasons. The availability of such tests could provide the option to terminate pregnancy for minor conditions, thereby tampering with the course of nature.

 

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Mitochondrial disease – so what are the next steps?

Last week you couldn’t move for discussion and speculation about the debate of the draft Human Fertilisation and Embryology (Mitochondrial Donation) Regulations that was about to take place in the House of Commons. The media was full of ‘3 parent baby’ headlines and the callers to the Radio Wales morning phone-in were at times rather polarised! I only caught a little of what was said, but on one side there was reference to Nazis and slippery slopes on the other, people with personal experience of genetic conditions who’d lost loved ones and who were themselves living with uncertainty. Others commented that it was the first they’d heard of the proposals and were shocked at the content. In fact there have been three scientific reviews and a public consultation over the past five years. I guess that however hard an organisation try to consult the public on whatever the topic, most people will just not be aware of the work until the media whips up a frenzy

So the outcome of the vote was to pass the legislation, but what next? Reports suggested that the first baby could be born as early as next year. In reality (and I am no expert) I think it is likely to be longer than that – but for the families who take this path I hope not too long. The House of Lords still has to approve the regs and then it will be up to the HFEA to licence and monitor the centres who wish to offer the techniques. Alongside this, couples will need to be approved for the treatment and then the process really starts. IVF is notoriously complicated and success rates vary for many reasons. We shall just have to wait and see…

If you are still not entirely sure what this is all about then here are a few resources we’ve found:

A Q&A from the Wellcome Trust Centre for Mitochondrial Research at Newcastle University (leading proponents of this approach), a helpful illustration of the two proposed techniques (maternal spindle transfer or pro-nuclear transfer) at the BBC and a really useful fact sheet on mitochondrial inheritance from the Centre for Genetics Education in Australia which helps explain why there can be such variation in how family members are effected and how counselling for future pregnancies is complicated.

…and remember 37 mitochondrial genes in amongst the ~24,000 that come from your mum and dad hardly makes it ‘3 parents’ in my mind.

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Cancer Genomes – Is sequencing or functional analysis the way forward?

An interesting article in this weeks Nature News looks at the completion of the multi-million dollar Cancer Genome Atlas project and considers which direction future work might take. With nearly 10 million cancer-related mutations identified, data from this project has provided ‘new ways to classify tumours and pointed to previously unrecognised drug targets and carcinogens’. The debate is whether to do more of the same or look at the mutations already identified and begin to determine how they influence cancer development and progression.

The National Cancer Institute (USA) has already announced that it is planning to focus sequencing on ovarian, colorectal and lung tumours. Clinical information will be linked to the sequence data which should increase the power of the study and hopefully provide insights into which mutations influence response or resistance to treatment etc.

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Expansion to newborn screen tests roles out across England & Wales

The good news for parents and babies about to be born in England and Wales is that the new born screening test has been expanded to included four additional rare metabolic conditions. Also known as the the heel prick test, this screening programme has until now looked to identify those at risk of phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Sheffield Children’s NHS Foundation Trust undertook a pilot study during 2012-2013 to test the validity of offering an expanded programme of screening. Following a successful evaluation, from this week in England and Jan 12th in Wales, the blood taken from newborns between 5 and 8 days old will also be tested for maple syrup urine disease, homocystinuria, glutaric acidaemia type 1 and isovaleric acidaemia. http://www.bbc.co.uk/news/health-30657478

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Dr Mary Frances Lyon 1925 – 2014

It is with sadness that I learned today of the death on 25th December 2014 of Dr Mary Lyon FRS. I had only recently written about her, as someone who had been a source of inspiration to me during my early career:

“I joined the Genetics section of the MRC Radiobiology Unit, Harwell in 1976 and worked there until I left to start nurse training in 1985. Unusually for the time, the Head of section was a diminutive female scientist, Dr Mary Lyon. Gentle and quietly spoken, she nonetheless led a world class research laboratory of distinguished scientists, with vision and determination. As a new postgraduate researcher, I was completely in awe of her and she instilled in me the importance of attention to detail and the scientific approach.

Mary had a formidable intellect and the various awards and prizes she gained over her career were testimony to this, perhaps most notably the internationally prestigious Wolf Prize in Medicine, in 1997. As a Fellow of the Royal Society, she received a Royal Medal in 1984. She put forward the hypothesis of X-inactivation, proposing random inactivation of one of the two X chromosomes in the cells of female mammals during early embryogenesis. Representing an outstanding contribution to human medical genetics as well as mammalian genetics more widely, this mechanism is sometimes referred to as lyonisation, in recognition of her. It led to great advances in understanding of X-linked inherited diseases such as haemophilia – and explained how we get tortoiseshell cats! Mary also made a major contribution to understanding environmental mutagenesis and I had the privilege of conducting some research with her on an aspect of this. Mary Lyon was, and remains, an inspiration to women in science.”

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Mediterranean diet keeps people ‘genetically young’

BBC Health news reports a study from US researchers that suggests that following a Mediterranean diet might be a recipe for a long life because it appears to keep people genetically younger. Its mix of vegetables, olive oil, fresh fish and fruits may stop our DNA code from scrambling as we age, according to a study in the British Medical Journal. Nurses who adhered to the diet had fewer signs of ageing in their cells. The researchers from Boston followed the health of nearly 5,000 nurses over more than a decade.
The Mediterranean diet has been repeatedly linked to health gains, such as cutting the risk of heart disease. Although it’s not clear exactly what makes it so good, its key components – an abundance of fresh fruit and vegetables as well as poultry and fish, rather than lots of red meat, butter and animal fats – all have well documented beneficial effects on the body. Foods rich in vitamins appear to provide a buffer against stress and damage of tissues and cells. And it appears from this latest study that a Mediterranean diet helps protect our DNA. The researchers looked at tiny structures called telomeres that safeguard the ends of our chromosomes, which store our DNA code. These protective caps prevent the loss of genetic information during cell division. As we age and our cells divide, our telomeres get shorter – their structural integrity weakens, which can tell cells to stop dividing and die. Experts believe telomere length offers a window on cellular ageing. Shorter telomeres have been linked with a broad range of age-related diseases, including heart disease, and a variety of cancers.
In the study, nurses who largely stuck to eating a Mediterranean diet had longer, healthier telomeres. No individual dietary component shone out as best, which the researchers say highlights the importance of having a well-rounded diet.
Independent experts said the findings were interesting but by no means conclusive.
Dr David Llewellyn, senior research fellow in clinical epidemiology at the University of Exeter, said: “All observational studies have the potential to produce misleading estimates, and we should not assume that the association with telomere length is necessarily causal. That said, this large well-conducted study is consistent with the hypothesis that dietary interventions may lead to substantial improvements in health”.
The British Heart Foundation said: “These results reinforce our advice that eating a balanced and healthy diet can reduce your risk of developing heart disease.”
Read the article here.

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Controversial DNA test comes to UK

A personal DNA test that has sparked controversy in the US has launched in the UK, BBC Health News reports.

The UK’s Medicines and Healthcare Products Regulatory Agency (MHRA) says the 23andMe spit test, which is designed to give details about a person’s health risks based on their DNA, can be used with caution. But critics say it may not be accurate enough to base health decisions on. The company, California-based 23andMe, stands by its test. Backed by Google, the firm offered US customers details of health risks based on gene variants they carry. But in November 2013, the US Food and Drug Administration (FDA) banned the company from marketing its service in the US, claiming 23andMe had failed to provide adequate information to support the claims it made about results.
A month later, the company stopped offering genetic tests related to health. An MHRA spokesperson said it regulated such tests in the UK to make sure they met minimum standards.

The UK Department of Health said it was behind the idea of using gene tests to guide patient care within the NHS, but echoed the MHRA advice on giving careful consideration before opting for services like the one offered by 23andMe. The Alzheimer’s Society went a step further saying: “‘If you are worried about your memory, your GP should be the first port of call – not a home DNA testing kit. Research has identified a number of genes that may play a role in the development of dementia but we don’t know enough to use these as a diagnostic tool.”

23andMe chief executive Anne Wojcicki said: “The UK is a world leader in genomics and we are very excited to offer a product specifically for UK customers.”

The company had previously offered results on a customer’s risk for 254 diseases and conditions, including identifying genes linked to heart disease and breast cancer. There was also information on how individuals might respond to certain medicines. But the FDA said the reliability of such tests had not been proven to its satisfaction. It was also worried that some customers could make life-changing decisions based solely on their results.

The UK Department of Health said the product launched in Britain was very different to the service halted by the US regulator. “Many of the drug responses, inherited conditions and genetic health risks that were of concern in the US have been removed,” a spokesperson told BBC News.

Read the full article here

 

 

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