Sarah Leiter – paralympic sport, patient care and personal growth

Sarah Leiter – paralympic sport, patient care and personal growth

Sarah Leiter - Women Ahead Of Their Time

Sarah Leiter

Paralympic sport, patient care, and personal growth

Playing a Paralympic sport for Britain, and learning the hard way how to deal with setbacks, have helped Sarah achieve her ambition of becoming a doctor, despite having a rare eye disease.

She was born with albinism, which left her with only ten per cent of normal vision, and affects just one person in every seventeen thousand.  But it was a condition Sarah was determined she wouldn’t let beat her.

‘I just never let it become an issue’, she says. ‘I knew what I wanted to do, and I was going to do it.’

Sarah was born and grew up in Germany, and remembers the age of 11 bringing a formative moment in her life.

‘I was on a family bike ride through some woods and it was all sunshine and shade, which is about as bad for my vision as it gets. I was at the back, with my dad, and getting frustrated at having to go so slowly. So I asked him why it was that I had albinism, and my brother Constantin didn’t.’

‘He’s a doctor, and explained to me about genetics, which immediately fascinated me. I went from being cross to thinking how interesting genes and hereditary illnesses were, and that was when I decided I wanted to be a doctor.’

Her parents supported her to fulfil her ambition with her visual impairment, by buying special equipment, such as a video camera linked to a laptop, so she could zoom in the image and see the board clearly.

Unusually for a schoolgirl, she also learned how to touch type, so she didn’t miss taking important notes.

‘I liked maths and science at school”, she says. ‘I had an inquisitive mind and I liked to know how things worked, which I think fed into wanting to be a doctor.’

But school was proving unfulfilling for Sarah. ‘It wasn’t challenging enough’, she recalls. ‘There wasn’t enough intellectual curiosity around me.’

That unhappiness was spotted by a teacher, who suggested to Sarah’s parents that she might do better at a boarding school in England. She already knew the country, as she had spent summers learning English there.

‘When Mum and Dad suggested it, I said yes immediately. I really liked it there, and thought I would learn much more than in Germany.’

With her father Sarah visited four schools, decided on Lancing College in Sussex, and was accepted. ‘I knew it was a big decision, and it was a bit daunting, but it was the best I ever made from a schooling point of view. I just knew it was the right way to go, so I went for it.’

Alongside her studies, Sarah took up outdoor sports like sailing and running. And she began working with disabled children.

‘That gave me great joy’, she says. It felt so good to make them happy. I know how they can feel isolated, because Constantin has autism and he can be lonely sometimes. One girl suffered terrible anxiety, but all I had to do was rub her back to calm her and make her smile. I’ll never forget what that meant, both to her and me.’

Happy in her new world, Sarah continued her pursuit of becoming a doctor, studying maths, physics, chemistry and biology at A level. It was a big workload, but she had a strategy to deal with it. ‘I was extremely organised and diligent, and made sure I did everything that was asked of me. I didn’t allow my visual impairment to become an issue.’

She impressed at A level and, beating intense competition, won a place at Newnham College, Cambridge, to study medicine.

‘It was an easy transition because I loved it straight away. I loved the city and made some great friends. They were so hardworking, determined, clever, and interested in life, and that was just what I wanted.’

But soon came a setback. Within only months of arriving in Cambridge, when it seemed life was going so well, Sarah failed a mock exam, in anatomy.

‘All you can do is accept something like that and learn from it”, she says thoughtfully, remembering how she coped in an environment where failure is rare. ‘You have to look at what went wrong, and how to deal with it.’

‘I realised I couldn’t just expect everything I was being taught to sink in. The medicine course at Cambridge is too intensive for that. I had to learn how to revise properly. To keep going back over the work, summarise it again and again, until it was really embedded in my mind. In a way I was lucky, because it was just the right time to learn that lesson.’

Lesson learnt, and her studies now back on track, Sarah was surprised to find a new and unexpected adventure in her life. The year was 2012 and she was inspired by the London Olympics and Paralympics to take up a team sport, something she had never done before.

‘With my eyesight, I thought it would be impossible. It just hadn’t been an option. But then I saw goalball and I just had to give it a try.’

The sport is designed specifically for visually impaired people. Teams of three compete to throw a ball, embedded with a bell, into their opponents’ goal.

Cambridge Rare Disease Network - Sarah Leiter - paralympic sport, patient care and personal growth 3

‘I fell in love with it”, Sarah says. “The people, the social life, it was all so new and it was brilliant. It’s a tactical and physical game, so it’s good for your mind and body as well.’

She had only been playing for a few months when Sarah was invited to a national talent spotting day. Three weeks later, she was playing in the Great Britain Development Squad, a feeder for the first team, and finding the sport brought unexpected benefits.

‘I surprised myself because I had what I wanted academically, but I had never seen myself as an athlete. It was a new world, made me fitter and stronger, and much more open about my visual impairment. It gave me the confidence to accept it as part of who I am.’

Sarah continued to play goalball alongside completing her medical studies. And the sport helped her to deal with a problem she had never suffered before.

‘Experiments can go wrong for months, or a whole year even when you’re in the labs. And it’s so frustrating. You have to find real resilience inside yourself. But goalball helped as it made me switch off from my problems. Having a support network of good friends and family around me was also important, as was my Christian faith.’

Sarah refused to give up, worked through her problems in the labs, completed her studies, and became a junior doctor at Addenbrooke’s Hospital in Cambridge.

Cambridge Rare Disease Network - Sarah Leiter - paralympic sport, patient care and personal growth 5

‘The first week was terrifying. You were taking responsibility for people’s lives, and you really feel that. Working in a team helps, as you have to support each other. And knowing you’re doing your best is important, too. As is humility.’

‘You’ll never be perfect. You’ll make the wrong decisions sometimes. Everyone does. It’s part of being human. But you need to have tried your best. It’s all you can do.’

And Sarah’s final words of advice for getting on in life, as she continues to tend to her patients on the hospital wards, alongside playing goalball?

‘If you want to do something, go for it. Don’t let anyone else say no. Be honest about your struggles, don’t try to hide them, but don’t give up. And know where your strength comes from, because that’s different for everyone and so important to help you on your way.’

Cambridge Rare Disease Network - Sarah Leiter - paralympic sport, patient care and personal growth 7

Story was written by Simon Hall.

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PMEA 2019 winners announced

PMEA 2019 winners announced

PMLiVE’s annual PMEAs, now in its 19th year, had its highest number of entries yet, with the largest range of companies entering the competition in almost two decades. This was reflected in the number of attendees at the event, with an impressive 430+ industry professionals present on the night.
Keynote Speaker Mark Ormrod, an ex-Royal Marine, Invictus Games competitor and author, kicked off the night with a moving and inspiring view of his life since being injured. The main awards ceremony was hosted by broadcaster and presenter Fergus Walsh, who caught everyone’s attention with images of his brain scans!
There were a total of 15 categories this year – the entry criteria and categories are reviewed each year to reflect the ongoing changes in the dynamic healthcare landscape.
In addition to the main categories, there was also a surprise award this year, The Judges’ Special Recognition Award, which reflected the impressively high standards of the entries received.
A brand new category was also introduced for 2019, Excellence in Pharma Brand Management.
Taking home this award was Takeda and Uptake Strategies for ENTYVIO’s Brand Healing, which positively impacted thousands of Ulcerative Colitis and Crohn’s Disease patients across the UK, thanks to an innovative brand strategy.
According to the PMEA judges, this entry “had impressive research, objectives and evaluation and was very impressive throughout. It has classically constructed market insights, converted into brand actions that follow the immutable laws of marketing with a single minded goal.”
As well as taking home this new award, Takeda had an impressive night, culminating in winning the coveted Lucid Group Award for Company of the Year. Takeda also won in three other categories: Excellence in Collaboration and Partnerships for A Gut Reaction with support from IQVIA, Excellence in Patient Education and Support for NINLARO Patient Support Programme with support from Apodi, and Excellence in Product Introductions for ALUNBRIG with support from Rock Unlimited.
The judges commented: “Takeda is an extremely impressive operation with a fantastic team ethos. The company is forward thinking, leads from the front, exemplifies its values and has an impressive list of achievements while successfully navigating a sizeable integration.”
Also shining on the night was Takeda Pharmaceuticals Europe/EUCAN, with support from Ashfield Insight & Performance and Ashfield Healthcare Communications, which took home the award for Excellence in Capability Development for their innovative campaign, A Fresh Approach to Data Training for MSLs.
The PMEA judges said: “This training programme for MSLs is creative and innovative in its approach to training, such as an escape room, theatre and speed dating. It has clear metrics set from the beginning, which are measured and well researched.”
A big surprise on the night was the Judges’ Special Recognition Award, which recognised two stand-out entries for their impressive work in the industry.
Dr Paul Stuart-Kregor, PMEA chair of judges, said: “This year, the judges decided that they wanted to recognise two particular entries that stood out as interesting, fresh and different. Both these entries had great merit beyond the criteria for the categories in which they were entered. They both demonstrated breakthrough thinking and facilitate hope for future care.”
The two winners of this impressive award were Cambridge Rare Disease Network and Havas Life Medicom for their entry RAREfest, and King’s College London and Four Health for the GLAD I Took Part campaign.
A consistent favourite among the audience is the PMEA Support Agency of the Year. Any healthcare agency, consultancy or group working in global, European or UK healthcare environment that provides a support service to pharmaceutical company clients can enter this category.
In the running for this prestigious award were 90TEN, Brandcast Health, Excerpta Medica, Havas Life Medicom, Makara Health Communications and McCann Health Medical Communications.
However, only one could take home the prize, and 90TEN was ultimately crowned Support Agency of the Year.
The judges commented that 90TEN “is creative, energetic and has strong relationships with its pharma clients, delivering on some high profile, creative campaigns”.
With the celebrations continuing into the early hours of the morning, and attendees networking and living it up on the dance floor, the evening was a definite success!
The full PMEA 2019 results can be viewed here.
Spirit of Stephen Hawking evoked by RAREsummit 2019

Spirit of Stephen Hawking evoked by RAREsummit 2019

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RAREfest shines a light on rare disease awareness with innovative new events programme

RAREfest shines a light on rare disease awareness with innovative new events programme

 

Coming to Cambridge next month, RAREfest is an innovative new event geared towards educating the public about rare diseases through hands-on exhibitions, inspiring performances and talks with expert speakers.

The scale of the issue might surprise you: though individually rare, collectively, rare diseases affect one in 17 people, with over 50% affecting children, 30% of whom heartbreakingly won’t survive past their fifth birthday. Awareness of the support and treatments available to these people is lacking. Within the same survey by OnePoll, it was reported that respondents thought only 38% of rare diseases have no treatment, when in fact 95% of rare diseases have no approved drug treatments. All of this tells us that even now in 2018, rare conditions are still not being diagnosed, treated or supported effectively – and this is where RAREfest comes in.

The event is organised by the Cambridge Rare Disease Network, and aims not just to educate but to engage and empower by showcasing who is doing what to help improve the quality of life of those affected by rare and undiagnosed conditions, bringing together key rare disease stakeholders in a powerful outreach event.

It begins on Friday 30 November with a launch event that will give three speakers the stage: each with a fascinating story to tell – and each with a rare disease. Hear from the first disabled man with muscular dystrophy to lead expeditions to the North and South Pole, plus a performance by a musician whose rare blindness means he memorises all his pieces from Braille, as well as a Cambridge grad living with brittle bone disease, who has taken her stories of living with a rare condition to the BBC Ouch stage and Edinburgh Fringe Festival to give a light-hearted glimpse into her world. Also at the launch event, see actor and documentary presenter Adam Pearson speaking with Dagmar Bennett, a sculptor who created a hyper-realistic bust of him – find out more here.

On Saturday 1 December, the Guildhall will transform into an interactive exhibition, showcasing pioneering science, technology solutions, charities, artists and healthcare teams. Amongst the cutting-edge tech gadgets to try will be Bright Sign’s glove, which can convert sign language into speech; Microsoft’s Torino Project for teaching blind children to code; and ReScape’s Virtual Reality headsets, which help people manage chronic pain and anxiety.

“This is a science, technology and arts festival with a difference”, says Jo Balfour from Cambridge Rare Disease Network. “We hope to share with people some of the innovative and exciting research and projects which are being carried out in Cambridge and beyond. There’ll be hands-on and interactive exhibits, talks from Cambridge experts Dr Giles Yeo and Dr Anna Middleton and others trying to find treatments and cures, cutting-edge technology that helps people live more independent lives, a film festival and artists and charities whose work raises awareness.”

“There’s something for everyone whatever their age – virtual reality,  robots, sculpture, genetics games, microscopes, research into premature ageing and rare eye conditions and much more,” she continues. “Anyone can come along with their family, friends and colleagues to learn, play, listen, discuss and be amazed by this little known area of science and health that affects up to 3.5 million people in the UK.”

 

Dan Jeffries – A rarity personified

Dan Jeffries – A rarity personified

Dan Jeffries - A Rarity Personified ·
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CRDN2016 Looking to the future where patients and carers are always involved in their care

CRDN2016 Looking to the future where patients and carers are always involved in their care

#CRDN2016 Looking to the future where patients and carers are always involved in their care - Special Needs Jungle

#CRDN2016 Looking to the future where patients and carers are always involved in their care

I spent yesterday in Cambridge at the Cambridge Rare Disease Network Summit 2016. CDRN is run by the amazing Kay Parkinson, who lost her two children to Allström syndrome, whose moving and inspiring story we told recently on SNJ

SNJ was so pleased to have been given a stand at the event, which was a great opportunity to show off our brand new SNJ banner. I was joined by our columnist, Marguerite Haye, and we also gave away lots of our new look SEND Flow Charts which you will be able to download from the site soon.

I hope our involvement in the rare disease agenda will help encourage more medical professionals to see that a child with any medical condition doesn't just have health care needs, but that health, education and social care must be regarded holistically and considered all at the same time.

Marguerite and Tania
Marguerite and Tania

What I think is special about Kay, is that she understands what it is like to be on the receiving end of bad news about your child's health and of poor treatment and she is using her experience to bring together examples of great work, practice and collaboration with the aim of spreading it liberally around so medics and patients working together is the norm.

It was also great to meet one of the team from The Rare Revolution Magazine who featured us in their very first edition, as well as saying hello to Kay, of course

Kay Parkinson & Rebecca Stewart with Tania

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Look it's a horse...er, with stripes

The doctors of tomorrow are still taught to look for the horses not the zebras, but there is hope in the form of Dr Lucy Mackay of Students for Rare Diseases who are trying to educate medical students that they mustn't forget that sometimes it really is the zebra and they hold events with students to listen to family stories...

When asked what her one wish was, her answer was for every medical student to spend a day walking in the shoes of a family coping with an ongoing, uncommon illness to look at the every day difficulties they face.

These changes towards more collaboration have not come from the medical profession. They have come from patients and carers who have been through trauma and tragedy and decided that things needed to be different. But it was definitely not a career choice.

Doctors and the NHS have traditionally not made it easy. They use complicated language when it would be easy to explain something much more simply. They refer to parents as 'Mum' which puts the parent in their place - you aren't important enough for me to learn or ask your name. They schedule appointments so that it can seem to families like they're at the hospital almost as much as they are at home. The medical profession works for its own convenience, and if you don't receive the appointment letter or your child doesn't fit into a neat box of a simple diagnosis it just isn't flexible enough or, often, caring enough, to help.

The MP who chairs the All Party Parliamentary Group on Rare Diseases, Ben Howlett, noted that patients with rare and undiagnosed diseases face injustice every single day and urged advocates to keep up their efforts, "Patient groups make massive amounts of change."

Ben said some parts of the UK Rare Disease strategy aren't working and is asking people living with rare diseases to send evidence to him of the good, the bad and the ugly.

Ben Howlett
Ben Howlett MP

But there is good - great - work being done, as we have covered before with the amazing Dr Larissa Kerecuk's holistic Rare Disease Children's Clinic being built in Birmingham.

I will leave you with a video Larissa presented and the thought that if one overworked, indomitable doctor can bring resources, funds and people together like this in one city, are there others elsewhere in the country who can do the same -so where let's find them!

Tania Tirraoro
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Cambridge Rare Disease Network – Re-imagining the Patient Journey

Cambridge Rare Disease Network – Re-imagining the Patient Journey

Cambridge Rare Disease Network - Re-Imaginin... - Vasculitis UK

Cambridge Rare Disease Network - Re-Imaginin... - Vasculitis UK

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Cambridge Rare Disease Network - Re-Imagining the Patient Journey

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Suzanne Morris and Lynn Laidlaw have collaborated, using Suzanne's graphic design skills and wonderful artistic vision, to create a patient journey poster submission for the Cambridge Rare Disease Summit this month , in Cambridge at Robinson College, (#CRDN2017). The theme for the summit is “Re-imagining the Patient Journey”. The VUK nomination by Suzanne and Lynn was voted best overall design. 😊 Please follow this link to read more. vasculitis.org.uk/news/camb...

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Global Experts in Cambridge Rare Disease Summit

Global Experts in Cambridge Rare Disease Summit

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Can you help harness potential knowledge about genetic intellectual disability?

Can you help harness potential knowledge about genetic intellectual disability?

Can you help harness parental knowledge about genetic intellectual disability? - Special Needs Jungle

Can you help harness parental knowledge about genetic intellectual disability?

When I was at the Cambridge Rare Disease Network Summit the other week, I saw a very interesting presentation that has something of interest for every family of a child with a genetically-derived intellectual disability. This means everything from autism, Down's syndrome, Williams syndrome and many, many other conditions from the rare to the much more frequently occurring.

I was planning to get in touch with IMAGINE ID team but, as it happened, they had also spotted our SNJ stand at the event and beat me to it! IMAGINE ID stands for Intellectual Disability and Mental Health: Assessing the Genomic Impact on Neurodevelopment. It's run by the University of Cambridge, University College London and Cardiff University and focuses on children diagnosed with a genetic condition which affects his/her learning.

They're looking to collect information from over 5,000 families with children aged 4 and over with intellectual disability due to a genetic cause. They hope to learn more about the long-term behaviour and mental health of children and young people from this large group of families. 

A particular benefit for families joining the study is once the DAWBA is completed, they will receive a personalised summary report detailing the child’s strengths and difficulties. This report has proven very useful for hundreds of families so far when applying to specialist services, SEN/EHCP and treatments. 

The research study coordinator, Marie Erwood has written a post for us with more details of the story and how you can get involved.

http://www.imagine-id.org/

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A study of intellectual disability, mental health and genetics

 When parents receive a diagnosis of a genetic condition in their child, a frequent next question is “So what does this mean for my child?” One of the most common results of having a genetic condition is some level of intellectual disability, learning problems or developmental delay. While some genetic conditions are very well described and quite a lot is known about them, there are many others which are very rare or newly identified and there is not much information available to help families with the diagnosis and what to expect in the future.

The IMAGINE ID study came about through the researchers’ wish to improve the information available for these families and to see the similarities and differences between different genetic changes. We aim to increase understanding of children and young people with intellectual disability and learn more about the link between behaviour and rare genetic conditions. Our researchers realised that most of the time, parents are those with the most expertise about their children. We want to harness this parental knowledge about their children and collect this information, rather than relying only on clinical observations which may not pick up all the small details about a child’s behaviour outside of a clinic appointment.

What participation entails

We ask parents to complete a questionnaire about their child (ideally on our secure online portal but it can also be done over the phone or in person) which goes into detail about the child’s behaviour and well-being. The questionnaire takes about 3 hours in total but is responsive and can be saved as you go along, so doesn’t have to be completed all in one go. Parents report that they have found this really helpful as it means they can do a bit each day rather than having to set aside a big chunk of time, which can be very difficult. We also ask some families to complete other online assessments (usually dependent on age of the child) and parents can choose whether they want to do this or not.

The other component of the study is a face to face assessment. We invite a limited number of families to take part in this (10 percent of the total participants) and families can decide when they sign up to the study whether they would like to be considered for invitation to this part. Our researchers come to the family home and carry out more in-depth assessments which give us more information about these children and help us to check that the online assessments are giving the same results as an in-person assessment would.

Once the online questionnaire is completed, the research team collects the answers and creates a personalised summary report which we send back to families. The report summarises the answers given in the questionnaire and shows scales to indicate how the child scores in certain areas compared to other children. You can see an example of the report. The report is usually received within 2-4 weeks of completing the assessment and many families have found this really useful when undergoing assessments such as SEN/EHCP, or when speaking to teachers or healthcare workers.

Here are some testimonials provided by families who have taken part in the study so far:

“The format of the questionnaire was so straightforward to follow, allowing me to drop in and out of it as I found the time.” 

“It gives a record of where [name of child] is and how she is now. When I read it in 5 years’ time I can look back at how she was and if things have changed.”

“Amazing – helped in education setting and used in his specialist school. They have looked through it and bits they weren’t aware of or bits I haven’t mentioned have been really informative for them.”

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More families needed

The IMAGINE ID study is led by University of Cambridge, University College London and Cardiff University and has nearly 1000 families recruited already, but is hoping to recruit over 5000 families. We would like to recruit a large number of families with a wide range of ages and genetic conditions so we can try to understand whether different types of genetic changes have similar outcomes, to what extent environment plays a part in a child’s development and behaviour, and what families might expect as their child grows up.

How to take part

The IMAGINE ID study is funded by the Medical Research Council and is running until 2019. To take part in the study, children should be over 4 and have intellectual disability, learning difficulty or developmental delay that has a genetic cause. All Regional Genetics Centres in England, Wales and Scotland are recruiting families to IMAGINE ID, so if you are interested you can either contact your Genetics Centre or get in touch with the IMAGINE ID team directly by email on imagine.id@nhs.net or telephone 01223 254631. We are very happy to answer any questions or queries you have. You can also follow us on Twitter and Facebook or for more information, go to our website, www.imagine-id.org.

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Tunnah’s musings: Rare diseases hold key to future of drug development

Tunnah’s musings: Rare diseases hold key to future of drug development

After chairing a panel discussion at this year’s Cambridge Rare Disease Summit in late October, Paul Tunnah muses on the lessons that can be learned for the future of drug development from the collaboration and innovation in this space.
In late 2015 I had the pleasure of attending the inaugural Cambridge Rare Disease Summit in the UK, a new event effectively marking the launch of the Cambridge Rare Disease Network (CRDN), which brings together all those local groups that have an interest in this area of medicine.
This year, I was flattered not only to be invited to attend again, but also to moderate a panel discussion as part of the proceedings, with free rein to position this as appropriate. It was clear to me that a good focus for this session would be a discussion on the parallels between rare disease research and the much broader evolution of personalised medicine.
The definition of a rare disease, in Europe, is one that affects less than five in every 10,000 people but, collectively, the prevalence of rare diseases is much higher, at around 5-10% of the population, depending on the country. In the UK, for example, around 3.5 million people have some form of rare disease, which, as the incoming chairman of CRDN, Alastair Kent OBE, pointed out, is greater than the population of Wales!
To put this figure in perspective, it is estimated that there are fewer people – around 2.5 million – living with some form of cancer in the UK, collectively spanning the major tumour types (for example, breast, colorectal, lung and prostate) right down to cancers that are themselves defined as rare diseases. But, if you look within the major tumour types, you will find that, while the site of presentation is consistent, the genetic basis is extremely varied. In effect, these common diseases are, at the genetic level, collections of many rare diseases. Over time, we are learning that the same is true for many other areas, such as heart disease, diabetes and respiratory disorders.
This understanding has driven the rise of personalised medicine, targeting the genetic underpinnings of a disease, rather than its morphological presentation. While it is important to recognise that not all rare diseases are ‘genetic’, in the sense of being present from birth, it does drive interesting parallels between the two fields. So this was the focus for my panel, entitled ‘Riding the personalised medicine wave to accelerate progress in rare disease treatment’.
The four panellists collectively represented the nature of collaboration that you can see everywhere in rare disease research.
Dr David Pardoe, Head of Growth Projects at MRC Technology, talked about the work the charity is doing in funding novel research and, specifically, in joining the dots between academia, biotechnology, pharma companies and other charities. This is not just about connecting great science with commercial capabilities, but also about exploring new funding models, e.g. crowdfunding and societal impact investment to accelerate development of new treatments.

hat

Dr Birgitte Volck, Head of Rare Disease R&D for GlaxoSmithKline (GSK), reiterated the importance of collaboration and the important role that ‘big pharma’ plays in helping both smaller biotechs and academic researchers progress critical research to a stage where it can be of benefit to patients. Volck is in a prime position to understand this research ecosystem, having only recently joined GSK, after four years with Swedish Orphan Biovitrum (SOBI) and working for the ‘original biotech’, Amgen, prior to that.

Dr Richard Scott, Clinical Lead for Rare Disease at Genomics England, provided an update on the 100,000 Genomes Project and how important it is with regard to rare disease research. The huge investment in this project, which itself collaborates with multiple academic and commercial partners, will surely help to drive quicker diagnosis of known disorders and even identification of new rare diseases over time. Critically, the evidence base they are building is freely accessible for non-commercial research organisations (and within the bounds of data privacy).

Finally, it was a distinct pleasure to feature Emily Kramer-Golinkoff, the Founder of the US not-for-profit organisation Emily’s Entourage, on the panel. The only participant not to have the title ‘Dr’, Emily is more qualified than most medics on the challenges of living with a rare disease, having lived all her life with cystic fibrosis (CF). The work she has done with Emily’s Entourage, in raising millions of dollars of research funding, accelerating trials and building a groundswell of support and publicity, is inspirational and has even garnered the attention of the White House, as the US seeks to lead the world on ‘Precision Medicine’.

But one important point that Kramer-Golinkoff makes about more prevalent rare diseases like CF is that they are also, like many common disorders, collections of many different genetic subtypes. Novel therapies like ivacaftor are delivering real step-change for some CF patients by addressing the underlying cause of the disease, but only for the small proportion with the relevant genetic mutation. As with other genetically complex and diverse diseases, like breast cancer, it is important to keep pushing for novel therapies that will help all patients, not just the minority.

The perspectives represented by the above panellists in our discussion were reflected in all the presentations throughout the day, from scientists, charity leaders, medical professionals, patients and their families. These conversations and collaborations are also happening every day of the year for those working in the rare disease space.

For the sake of current and future patients, whether relating to a ‘rare disease’ or rare subtype of a more common disorder, it is important to listen to them, learn and adapt the way we do medical research. This type of collaboration and innovation is the future.

If you get chance to come along to next year’s Cambridge Rare Disease Summit I would recommend it and, in the meantime, stay well.
Linking cancer with rare disease

Linking cancer with rare disease

 

It is no surprise that most effort in the pharmaceutical industry has been directed towards developing drugs for diseases that are common in affluent societies.

Drug discovery is in many cases an extremely expensive process with, on average, well over a billion dollars now spent on each licensed medicine.
Drug development for rare diseases is a particular challenge; not only are drugs for rare conditions expensive but small patient numbers can make it hard to set up statistically significant clinical trials.

The earliest drugs to be developed against cancer – cytotoxic chemotherapy drugs – targeted rapidly dividing cells, and so each could be used in many tumour types.

Second- and third-generation cancer drugs that target specific, dysregulated molecular mechanisms have the benefit of reduced side effects, but most will only be effective in a small patient population.

Developers of targeted cancer drugs can therefore face the same types of challenge as developers of drugs for other rare diseases.

The term ‘rare disease’ has been defined precisely, although this definition differs between jurisdictions.

In the US, a disease is classed as rare if it affects fewer than 200,000 individuals in that country, whereas the European Medicines Agency (EMA) defines a rare disease as one that affects no more than five in 10,000 people and is ‘life-threatening or chronically debilitating’.

Whichever definition is used, about 8,000 diseases are currently classified as ‘rare’ and this number is growing in particular through the discovery of new ultra-rare genetic lesions.

As there are so many rare diseases, a surprisingly high proportion of any population – some 30-40 million in the EU, for example – will be diagnosed with a disease in this category at any time.

About 80% of rare diseases have known genetic causes, and many of these are Mendelian diseases that are diagnosed early in life and can be severely life-limiting.

Some cancer predisposition syndromes, in which a mutation in a proto-oncogene or tumour suppressor gene greatly increases the risk of affected individuals developing one or more specific cancers, fall into this category.

These include Li-Fraumeni syndrome, which is caused by a germline mutation in the tumour suppressor p53 and in which the risk of developing invasive cancer before the age of 30 rises from 1% in the general population to about 50%.

Patients with inherited mutations in the BRCA genes have a greatly increased lifetime risk of developing several cancers, most notably breast and ovarian,

However, the basic definitions of ‘rare disease’ also encompass other cancer types, including some not generally thought of as uncommon.

Pancreatic cancer, for example, is the fifth most common cause of cancer death in the UK but still has an age-standardised prevalence of about 6 in 100,000, which fits very well within the European rare disease definition.

Both the EMA and the Food and Drug Administration (FDA) in the US designate candidate drugs for rare diseases as ‘orphan medicinal products’ and offer companies incentives to work on them.

Partly due to these incentives, the numbers of orphan drugs in clinical development have increased significantly in recent years.

However, most of these are still in Phase I or Phase II trials and there are no currently approved drug treatments for approximately 95% of the diseases designated as rare and eligible for support through orphan drug legislation.

There are more orphan drugs in development for specified cancer types than for any other broad class of disease.

Furthermore, as the detailed molecular landscape of cancer is elucidated, the orphan drug definition comes to encompass drugs for specific subtypes of even the commonest cancers that are defined through genetics or morphology.

Some of the 105 cancer drugs included in a list of orphan drugs in development published by the FDA in 2013 had been designated for subtypes of one of the commonest cancers – lung cancer – identified using gene or protein biomarkers.

These drugs should be licensed only with a companion diagnostic to ensure that they are given only to patients who can be expected to benefit.

Although progress is still slow, prospects for patients with a number of rare conditions, including rare cancers, are beginning to improve.

These improvements are being driven by genomics and allied technologies helped by orphan drug legislation and by the increasing involvement of the patients themselves.

In some cases, patients or their close relatives have become entrepreneurs, establishing foundations and pioneering research into the diseases that affect their families.

“Parent entrepreneur” Nick Sireau, who set up the AKU Society to support families affected by the disease that affects his sons, alkaptonuria, was one of the co-founders of the Cambridge Rare Disease Network.

The Cambridge Rare Disease Network in the UK was co-founded by one such ‘parent entrepreneur’, Dr Nick Sireau, who set, and to help with research towards its cure.

This network brings together all those with an interest in rare disease in the Cambridge (UK) area – researchers, entrepreneurs, activists, policy-makers, the media, patients and their families – to discuss shared interests and initiatives.

The network’s inaugural Rare Disease Summit, held in September 2015, featured keynote lectures by another parent entrepreneur, Matt Might, and a moving address given over a video link by perhaps the best-known rare disease patient of all: Cambridge’s Professor Stephen Hawking.

Sir Greg Winter, a pioneer of monoclonal antibody technology and founder of Cambridge Antibody Technology (now part of AstraZeneca) gave the other keynote lecture.

Winter explained that six of the 10 best-selling therapeutic drugs in 2014 were antibodies, and three of these – Avastin, Herceptin and Rituxab – are prescribed for cancer.

The success of these drugs comes despite the fact that antibodies tend to be expensive to manufacture and that the patient populations are not particularly large.

The most expensive drug in the world – Soliris (ecolizumab), with an annual price tag of $600,000 – is a monoclonal antibody that is used to treat two ultra-rare blood clotting disorders.

Winter recently founded another biotech company, Bicycle Therapeutics, to develop highly constrained bicyclic peptide drugs (‘bicycles’) which would have the same high affinity as antibodies but would be smaller, easier to work with and cheaper to produce.

A bicyclic peptide conjugated with a toxin has already been shown to be highly effective in a mouse model of sarcoma.

Several other speakers discussed developments in drug discovery for rare cancers and cancer subtypes.

Steve Jackson of the Wellcome Trust/Cancer Research UK Gurdon Institute in Cambridge described how the principle of ‘synthetic lethality’ has been exploited to develop drugs to selectively kill tumour cells, and how related principles might be used to alleviate genetic diseases.

Jackson explained how genetic defects in the genes BRCA1 or BRCA2 disable a specific DNA repair pathway.

Cancer cells in which one of these genes has been lost are highly dependent on a separate pathway for DNA repair, and blocking this pathway using an inhibitor of the enzyme poly-ADP ribose polymerase (PARP) will kill such cancer cells but not the patient’s normal cells.

PARP inhibitors are thus selectively toxic to tumour cells with this genetic profile and can therefore be relatively free of side effects.

Jackson was the scientific founder of the biotech company KuDOS which, through its acquisition by Astra Zeneca, has now taken three drugs into the clinic.

The most advanced of these, olaparib, has been licensed in the USA and the EU for advanced ovarian cancer with BRCA mutations and is in advanced trials in various other cancer types.

The Cambridge Rare Disease Network is only one sign of the growing importance of collaborations between patients and professionals in the rare disease community.

Patient communities are being formed online for some of the rarest diseases of all, where only a handful of families worldwide are known to be affected.

Nevertheless, each of these communities is very small, and they can be most effective when they join together in umbrella organisations such as Eurordis, known as ‘the voice of rare disease patients in Europe’.

Patientslikeme is an online community or in which patients with a wide range of rare and common conditions come together to discuss their disease and its treatment.

Its membership currently encompasses over 2,500 conditions including many cancers; members share data on their conditions, treatments and side effects with each other and the research community.

Many patients choose to share and donate data on their conditions via the ‘Data for Good’ research platform, and data from Patients Like Me participants has so far been used in over 60 publications.

Many cancer patients have become involved in this initiative.

“I owe other patients my experiences… and doctors and researchers need my data” explains one renal cell cancer patient in a video posted on the site.

As we understand more about cancer as a genetic disease, for example, the sequencing of 25,000 cancer patients’ genomes through Genomics England’s 100,000 Genomes Project, we will become even more aware of genetic differences between and within tumours.

We may come to treat every patient’s cancer as a rare, if not a unique disease, so the insights now shared by the rare disease community will become even more important for oncology.

 

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