Thursday, 12 November 2015

Precision Medicines - Why?

Precision medicine is the talk of today, with a cancer drugs fund for Wales in the news and our own 'Stopping The Clock' campaign launching, calling for fair and prompt access to precision medicine for people with cystic fibrosis.

But what is 'precision medicine' and why does it matter? Dr Janet Allen, Director of Strategic Innovation, digs deeper.

On 20 January 2015, President Obama made this announcement in his State of the Union address to the US nation: 

“Tonight, I’m launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes – and to give all of us access to the personalised information we need to keep ourselves and our families healthier.”

This was an exciting, bold statement that frames the future of treatments where individuals are treated as individuals. Recently Francis Collins, Director of the USA National Institute of Health, gave his vision of how this will be delivered, at the Faster Cures conference at the Milken Institute (pictured). He described the programme as “big, hairy and audacious – and so it should be.” 

Dr Collins argued that the time is right to do this mainly as a result of technologies coming together that will be able to inform treatments; for example genomics, environmental effects, personal wearable sensor technology. In the past, new treatments were approved based on the law of averages. For instance, how does this treatment lower the average person’s cholesterol compared to no treatment?

We need to move away from this to a state where the right drug is given to the right patient at the right time to achieve the right effect. 

This is the aim of precision medicine; we need to convert our thinking on how to keep people healthy and not see healthcare as only having a role in treating ill-health. A key component in the development of precision medicine is to engage with people as equal partners and not as subjects for study. This thinking will transform the way we do scientific research and is already creating the concept of ‘citizen scientists’. All of this will not happen overnight but the very mention of precision medicine in the State of the Union address creates momentum and it is clear that the National Institutes of Health are up for the challenge and ready. 

If you think that precision medicine is only for the ‘big’ conditions such as heart disease and cancer, see the extended quote from the State of the Union address: “21st century businesses will rely on American science, technology, research and development. I want the country that eliminated polio and mapped the human genome to lead a new era of medicine – one that delivers the right treatment at the right time. In some patients with cystic fibrosis, this approach has reversed a disease once thought unstoppable.” 

These are truly interesting and exciting times and we need to ensure that cystic fibrosis remains in the vanguard of developing precision medicine to benefit each and every individual with the condition. This is audacious but that shouldn’t stop us. As another speaker said:

·         Don’t let perfection be the enemy of good.

·         Don’t be afraid of getting started.

·         Don’t be afraid to learn.

Find out more about our 'Stopping The Clock' campaign at

Monday, 9 November 2015

Gene editing: a therapy with masses of potential, but not only in treating cancer…

Last week gene editing hit the news with the story of young leukaemia patient Layla and a pioneering treatment at Great Ormond Street. Here Dr Anoushka de Almeida, Head of Research at the Cystic Fibrosis Trust, talks about the science behind the story, and the ground-breaking work being funded by the Trust into using genetic editing for treating cystic fibrosis.

We have recently heard on the media of clinicians at Great Ormond Street Hospital using the revolutionary technique of gene editing to treat a little girl, Layla, diagnosed with an aggressive cancer of the bone marrow. All other conventional treatments failed and this was Layla and her family’s last hope – and it seems to have worked.

So what did they do to produce such a miracle? Layla’s doctors teamed up with researchers at UCL, led by Prof Waseem Qasim, who has developed a novel approach to gene editing in immune cells (T-cells). This approach involves taking donated T-cells from a healthy person, modifying the genome using gene editing to enable them to attack cancer cells, and then introducing them into the body. Previously, these cells had only been tested in mice, so Layla was the first human to receive them. The  gene editing technique they used involved using a pair of 'molecular scissors’, a kind known as TALEN proteins, to ‘switch off’ certain receptors, making sure that the modified T-cells leave the healthy cells alone and only attack leukaemia cells. Genes were also edited out to make the new cells ‘invisible’, so that they wouldn't be destroyed by other leukaemia drugs.

It is still early to say whether Layla has been completely cured. The pharma company Cellectis, who collaborated with Qasim, plans to start full clinical trials early in 2016, the results of which will hopefully confirm that this isn’t just a one-off. If they are successful, this is a huge step forward for treating leukaemia and other cancers, as well as other conditions…

This leads me on to talking about the research that’s currently underway using gene editing in cystic fibrosis…

As we know, cystic fibrosis is caused when there are mutations in both copies of the CFTR gene. Recent studies have shown that the most common CF-causing mutation, F508del, can be corrected using a gene editing technique called ‘CRISPR/Cas9’ (a different method to what they used for Layla – but principally the same). The first step in this technique is to cut out the dodgy bit of genome using the ‘molecular scissor’ complex, and the second step is to repair it by using a donor DNA molecule containing the correct, non-faulty sequence. Now, this all works well in isolated cells outside the body, but the efficiency of the repair is very low. Also, difficulty arises when delivering both the molecular scissor complex and the donor DNA into the correct place in the body.

A different approach is being investigated by Dr Patrick Harrison and colleagues at University College Cork. This work, which the Cystic Fibrosis Trust is co-funding with the Cystic Fibrosis Foundation in the US, involves focusing on a small group of three rare CF-causing mutations. (These mutations basically disrupt the processing of the messenger RNA molecule which is normally needed to make the CFTR protein in cells). In all three cases, there is an extra sequence in the genome which interferes with the normal processing. Dr Harrison’s team is exploring using the gene editing approach simply to cut out this extra piece in the genome region that causes the problem. This CRISPR ‘knock-out’ strategy is more efficient than repair, and only requires delivery of just the molecular scissor complex; no donor DNA is required.

Dr Harrison’s group has teamed up with groups in Europe and the US to take this work further so that they can determine if all this hard work eventually leads to the normal CFTR protein being produced, resulting in normal functioning of the particular lung cells in cystic fibrosis.

So, off the back of the break-through in little Layla, gene editing has re-entered the limelight. It can be safely said that it is not only a promising prospect for cancer such as leukaemia, as her case unquestioningly demonstrates, but also for genetic conditions like cystic fibrosis. The Cystic Fibrosis Trust is fully supportive of this therapy and sees its exciting potential, and we would be keen to engage in further cutting-edge research in this area of genetic therapies.







Friday, 6 November 2015

Reflections on the Disability Discrimination Act

To mark this week's celebrations of the Disability Discrimination Act, our Policy Manager Nick Medhurst looks at what this has meant for those with cystic fibrosis.

It is 20 years ago this week that the Disability Discrimination Act 1995 was brought into law in the UK and it is being celebrated today as a watershed moment for equality.

It marks a moment in time when we, as a society, recognised our collective responsibility to actively support people who deal with daily challenges from a health condition or disability to achieve their ambitions.

The change in the law that it brought about, now covered by the Equality Act 2010, meant that for the first time people could request, and legally expect, for reasonable adjustments and arrangements to be made for them at work and in wider society to overcome barriers and maximise their potential.

So what has this meant for people with cystic fibrosis?

We recently surveyed 1426 people from our community about cystic fibrosis, their treatments, and what matters to them – perhaps you took part – and we are very humbled by the response we got and excited to share our findings with those who took part in the coming weeks and use those results, in every way we can, to make a positive difference to people’s lives.

One message that we received loud and clear was that managing cystic fibrosis is time-consuming (sometimes all-consuming), disruptive and sometimes impossible to balance with leading the lives that we hope for.

When fighting to keep as well as possible, people with cystic fibrosis will face hundreds and thousands of small challenges every week.

The Equality Act describes a disability as a physical or mental impairment that has a ‘substantial’ and ‘long-term’ negative effect on your ability to do normal daily activities

However, when most people hear the words ‘disability’ or ‘disabled’, I can’t imagine the image of someone with cystic fibrosis immediately pops into their head.

That seems to work both ways and many people with cystic fibrosis don’t always see the fit either. I’ve even heard that some people, likely eligible, choose not to apply for Disability Living Allowance (DLA) because they do not feel ‘disabled’.

The power of the Equality Act, and its predecessor, the DDA, is that it does not label us. It protects us, supports us and empowers us, when we can be at our most vulnerable.

For people with cystic fibrosis, it should be celebrated for the recognition it gives that people who face such challenges in their daily lives can achieve so much more if they live in a society which recognises and acts on unnecessary barriers to fulfilling ambitions.
However, we recognise that people with cystic fibrosis can and do still face discrimination and we would be interested in hearing about any challenges you have faced.

Friday, 30 October 2015

Looking back on Young People's Week

Last week we held our first Young People’s Week on social media, and we want to thank you all for your fantastic contributions. There was some great discussion about the challenges of juggling CF with everything else young people have to deal with, and we received some lovely comments from parents who were encouraged to hear young people talking openly about their condition and how they handle the demands of cystic fibrosis. We particularly want to say a huge thanks to Holly Van Geffen and Charles Michael Duke for their takeover day on Wednesday, which provided an honest and often hilarious insight into life with CF from two very different perspectives (if you haven’t seen Charles’ video on how to tell people you have CF, we strongly recommend you check it out below:

We launched our call for young advisors to help guide our programme of work with young people – over on Hack it Up we’re asking you to tell us what you think the role of an advisor should be and seeking ideas on how we can involve more young people with CF in our work, so if you’re aged 16–25 get on over and have your say.

We also posted about our Bright Ideas Awards where young people with CF who have a business idea can apply for small grants to help them turn their ideas in to reality.

Zainab Nasim’s blog on graduating from uni with a First in Pharmacy was inspiring stuff – as she says, it was all down to “hard work, determination and motivation”. We’ll shortly be asking more young people to tell us about educational experiences and seeking some young ambassadors to inspire other people with CF to achieve their goals.

As you may have seen, we’re currently recruiting for a Youth Empowerment Officer, to join the team at our office and help us create an exciting and innovative programme. We’re looking for a creative and upbeat individual with a genuine desire to support young people with CF to live their lives unlimited.

The week marked the start of our new programme of work with young people, but it’s only the beginning. We want to keep up the conversations to find out what’s really important to you – and how we can empower young people to live their lives unlimited by cystic fibrosis. Next steps will be to set up our youth advisory group to ensure all our work with young people is fully informed by their views, and also to develop our young ambassadors programme, as well as starting to develop some exciting new projects and initiatives led by young people in the new year. We'll be making young people's week a regular feature too so keep an eye out for ways you can get involved as we build on the great feedback we received in Young People's week. So please continue to share your views with us.

Thursday, 22 October 2015

Education, Careers & CF - Zainab's Story

Today as part of our Young People's Week, we're looking at education & careers. Managing cystic fibrosis can be a challenge not just at home, but also outside of it, which is why we've asked Zainab Nasim to tell us about her experience, having recently graduated from university.
My name is Zanib and I have cystic fibrosis. I recently graduated from Manchester University with a degree in Pharmacy. Needless to say, it was tough studying at university and coping with cystic fibrosis. There were many times when I had to study in hospital and it was difficult, but you just have to stick by it. My final year, as you can imagine, was one of the toughest years. Most of you probably know the fine balance between your treatment and work/study life – it sure is hard to juggle both at the same time.

I just about managed to work it out in my final year by being very strict with myself, which meant I had to do all of my treatments and exercise at specific times as well as studying. I personally think that this routine is the one that got me to success – as well as hard work and determination! Of course, I moaned to my parents and siblings all the time!

After everything, I graduated with a first in Pharmacy and at the moment I am doing my pre-registration year, which is a training year before I qualify (hopefully). It is very different to what I was used to at university and it has been hard to get used to the routine. However, I have been able to maintain my health, thankfully. This is down to having a strict treatment routine.

But I always say this and will continue to say this: if anyone can do it, then why not me? Nothing is impossible – it’s just hard work, determination and motivation. Not to mention all of the tears, as well! But I can say that the sun still shines after a storm, and we just have to remember that.

Did you know people with CF can get help to go into further and higher education? The Jospeh Levy Education Fund provide grants to support people with cystic fibrosis.

Wednesday, 21 October 2015

Young People's Takeover: Charles Micheal Duke

Hi there!

My Names Charles Michael Duke, I'm a singer/actor from Bournemouth. I’m currently 20 years old, and I have cystic fibrosis. Oh, and I've been waiting for a double lung transplant since April 2015...

I was diagnosed with cystic fibrosis at birth and had a fairly healthy childhood, with around one admission for intravenous (IV) antibiotics a year. However, in 2014 it all started to go a bit downhill. I started to be admitted more regularly, and my lung function was rapidly declining.

Since 2014 I have been admitted several times,, spending around seven out of 12 months in hospital. In June 2014 it was decided that my health had gotten to a point where we needed to consider lung transplantation, so I was refereed for assessments. Unfortunately, my health didn't improve and I went through the assessments and was listed in April 2015, and have been waiting for a double lung transplant since. I’m currently spending two weeks in hospital in the hope that this will keep me 'well enough' for when my call comes, and I will be able to survive the operation and get through the rehab process.

Being a teenager with CF for me wasn’t too difficult; my CF never got in the way, and I was able to fit treatments around socials and going to friends’ houses. They were all aware of my condition and were accommodating of it. However, with my recent decline, had my health been in this state when I was younger it would have made things much harder. I can’t always go as out as I’m not well enough, I don’t do sports so would have missed out on lots of socials that involved things like football down the park. I wouldn’t have been able to stay out or over at a friends as I now require oxygen at night. Although my health isn’t in the best of states now, I would rather it happen in this stage of my life than my childhood/teenage years – I was able to have a childhood, which some people with CF aren’t able to say.

Young People's Takeover: Holly van Geffen

Baby Me
Me now, aged 23
Hello everyone!

So I have been asked to do a social media take-over today with the Cystic Fibrosis Trust to talk about being a young person with CF and the issues we face, and to talk about the help and support we need.

I am Holly and I am 23 years old. I was diagnosed when I was six weeks old and have the most common delta f508 mutation. In February 2015, aged 22, I received a double lung transplant; I had been waiting for two years, since the age of 20.

I think I will begin my story from the age of 12 as I think is the age I became fully aware of my CF and how it affected me. I was lucky as a child and only required intravenous antibiotics (IVs)  twice, aged five and 11! So up until the age of 12, CF was very much in the background of my life. As I moved to high school, I had to take on more responsibility for my own CF treatment. Although I still had a helper who would do my lunch time physiotherapy in the form of postural drainage with percussion, I was now in charge of my own enzymes at lunch time (at primary school my helper would also do that side of things for me). In the lead up to having this responsibility, me and mum discussed what I would have in my packed lunch and the amount of enzymes I would take with each item, so I felt well prepared and never had an issues of taking too many or not enough!

Outside of school, particularly in the evenings, I began to think doing my treatment was a chore and my compliance dropped. It was around this age that the hospital wanted to change my usual physio technique of my parents giving me postal drainage with percussion to using a breathing device. This gave me the control and responsibility of doing my physio which they saw as a good step toward independence. I tried the Pep mask and the Accapella, but I unfortunately didn't feel the same benefit and that I did with postural drainage, so would only do the physio sessions half heartedly! By the age of 14 my compliance was so bad with physio that my mum and dad fundraised and we were able to buy 'The Vest airway clearance system'. It was the best thing we ever did and an attitude changing moment for my young teenage self. The vest allowed me to still have independence in doing my physio, but not so much responsibility in carrying out the correct technique. Instead, I could sit and watch TV or read a book whilst the vest did the work for me. It sounds lazy, and it was, but that is the teenage brain for you! There are a lot of mixed opinions on 'The Vest', but for me it was a saviour in my compliance to treatments and was by far better than doing no physio at all.

At the age of 14 I took up cheerleading in my free time; I trained for seven hours a week over the course of three different nights.  It was great that I found a 'sport' that I loved and was passionate about at an age where often exercise decreases because it isn't cool! I would really recommend cheerleading to CF girls as a hobby that is exercise based but has a great social side to it and sense of achievement. I was a cheerleader for five years and took part in competitions with my team nationwide! It definitely kept me better than I would have been if I'd done no physical activity.

Me in the centre with my leg up! I was a flyer!
My health remained stable until I was 15 and I was diagnosed with atypical Mycobacterium abscessus. Until this diagnosis I had mainly had issues with ABPA (allergic response to Aspergillus fungus), which was treated with high-dose steroids and anti-fungal medicine. My symptoms changed from a wheezy tight chest with the ABPA to a loose crackly chest full of mucus with the mycobacterium.

This change in symptoms and the
With the trophy we won
infections in my lungs prompted a change in my treatments. IV's became a regular occurrence, because of this I had a portacath fitted because my veins couldn't cope with the long lines!

Between the ages of 15 and 19 the regularity of IVs increased from every six months, to every three months, to every month. At the age of 19 I was told I no longer grew the mycobacterium but was kept on a maintenance dose of the oral antibiotics it was sensitive to just in case.

With the mycobacterium gone my lungs became infected for the first time in my life with Pseudomonas aeruginosa. Now the competition with the mycobacterium was gone, the Pseudomonas took full advantage of colonising my lungs! I was unfortunate in culturing an extremely antibiotic-resistant strain of Pseudomonas, so treating it was very difficult. My lung function had dropped to 22% in July 2013 and I was referred for a double lung transplant. I was  reliant on permanent IV's for over two years to be in a stable condition until I got my transplant. Just a weekend off could cause the infection to flare up to the point I was bed ridden. My doctors came up with three antibiotic cocktails to rotate every two weeks; I was lucky my mum was my full-time carer so could do the IVs for me in the comfort of my own home instead of being in hospital permanently. In the two years leading up to my transplant I required oxygen and taught myself to insert a naso-gastric feeding tube for overnight feeding.

Since my transplant my routine has changed massively and I no longer need a lot of the CF treatments anymore. I don't have physio, nebulisers, inhalers, IV's or oral antibiotics anymore. I do however have to take anti-rejection medication and exercise is a key part of keeping my new lungs well and raising my lung function to its full potential.

Now you have a brief history about myself, I would like to welcome you to ask me questions about anything you like, from puberty to socialising, and letting people know about my CF to diet ideasbasically anything CF or transplant related you can think of, and I will try my best to answer from my own experiences.

I will be posting more issues I feel passionate about during the day!

Thanks for reading