Dr Melita Irving- The DNA Doc at RAREfest20

Dr Melita Irving- The DNA Doc at RAREfest20

Known as the DNA doctor, Melita Irving is passionate about … well, DNA! She works as a consultant in clinical genetics at Guys and St Thomas’s Hospital, specialising in conditions that affect the skeleton. Last year Melita’s book ‘The Human DNA Manual’ was published by Haynes, covering everything from how DNA catches killers to identifying long-dead kings! Who’s the book for? Anyone with DNA!

DNA Doctors Melita Irving RAREfest20

At RAREfest20 Melita will be doing a live DNA extraction, not on a human (phew!) but on a strawberry. She’ll be interviewed by Dr Lucy Mackay from Medics4RareDiseases, a charity that drives an attitude change towards rare diseases amongst medical students and doctors
in training.

We caught up with Melita ahead of  RAREfest20 to talk all things DNA…

What does a genetic scientist actually do?
Genetics impacts upon every system in the body and affects everybody! The most common type of referral into the clinical genetics service is a child who is not meeting their developmental milestones. Maybe they’re not growing as expected. Maybe they look different. Maybe they have an abnormality, like a hole in the heart. The question needs to be asked: Is this child just unlucky or could there be one single explanation that accounts for everything – and could it be genetic? Being a genetic scientist is exactly like being a detective, looking for that key clue that leads you down the right path and not being confused by any red herrings that are thrown in the way.

How has technology changed the way rare diseases are diagnosed?
There are 20,000 genes, all of which can go wrong, and there are 8000 listed genetic disorders that are classed as rare diseases. Up until very recently we’ve been absolutely hamstrung by our ability to do genetic testing for diagnostic purposes. We used to put all the clues together, do our ‘best guess’ diagnosis, see if there’s a test available and then get that test done. After all that, you find you’ve been on the wrong path the whole time. So, you’d have to come back up that path and go down another one. Rinse and repeat. It could be a very long drawn out process that never led to any answers.

However, we are now in an era where we can do high throughput genetic testing. We are able to look at all the genes in one go and focus all our attention on those we think are relevant to the story. You can go down ten different paths at the same time! We are anticipating that in the next year or so the speed at which we get to diagnosis through genetic testing will be much quicker. That’s all down to technology and whole genome sequencing.

Why are rare diseases so hard to diagnose?
Not many people know about rare diseases and there are so many of them, plus there’s no one type. You might have the same diagnosis as someone else, but the format of your rare disease is completely different.

Another problem is at medical school we are frequently told not to worry about rare diseases and concentrate on more common conditions. This means rare diseases are never fully appreciated and that bit of the ‘doctor brain’ never gets to develop. Medics4RareDiseases are pushing for more learning at medical school and in early stage careers, so rare diseases become something you must think about.

Melita Irving DNA Doc

Technology has opened up the door for a much more rapid diagnostic system for rare disease, which will mean they will be pushed up the agenda and that will encourage greater awareness.

Who is your hero and why?

Rosalind Franklin. An unsung hero who doggedly worked away at discovering the structure of DNA, didn’t get recognition for her amazing work, but didn’t make a fuss about it. I’ve seen the photograph she took that led to the understanding of DNA as a double helix. It’s a wonderful thing to behold.

Where’s your favourite place in the world and why?
This year I didn’t get to go to any the events I usually do, but I did manage to get a holiday! I went to Rhodes in Greece and it reminded me how much I love all things Greek! The sky, the sea, the food, the language. Just lying on the Mediterranean in the sunshine with the prospect of a delicious lunch on the beach is probably one of my favourite places to be.

What is your greatest achievement?
The book! I’m delighted with how it’s turned out. It looks so pretty and is accessible to people who might not know anything about DNA. If I can impart my love of DNA to other people, that would be a very fine achievement.

What are your hopes for the future of rare disease?
With all the improvements in how rare diseases are diagnosed, it would be really great if the next step was finding treatments that will make things better for patients with rare diseases. That’s where I’d like to see the future going.

Journey of Hope: Ceridwen Hughes at RAREfest20

Journey of Hope: Ceridwen Hughes at RAREfest20

“The importance of diagnosis cannot be underestimated. Not only do you feel like you have something you can put a name to, but it opens doors, not least the ability to connect with others who have that shared experience and knowledge.”
Ceridwen Hughes, Same but Different

RAREfest saturday speaker Giles Yeo

Founder of Same but Different, Ceridwen Hughes, will lead a webinar at RAREfest20 all about the diagnostic journeys faced by parents of children with rare diseases. It’s based on the critically acclaimed film ‘Journey of Hope’, which Ceridwen directed. Here she talks to us about the importance of diagnosis, her hopes and her heroes.

RAREfest20 logo

As a parent of a child with a rare disease, what does RAREfest20 mean to you – and your child?
Awareness about Rare Diseases and the celebration of this wonderful community is really important. RAREfest is a brilliant opportunity to bring people together and share experiences, whilst also educating one another and the wider community about all things rare!

From your research and your own experience, what frustrations do parents face in their diagnostic journey? 
In our film, ‘Journey of Hope’, I think Iggy’s mum, Sarah, explained it perfectly. She said, “The diagnosis certainly doesn’t give us simplicity, but it gives us a starting point. It gives us a starting point to begin to understand what Iggy needs. Before that, we had nothing.”

 Our own diagnostic journey was relatively short. It took 11 months, but this felt like a long time to us. Sadly, for so many, it can take many more years.  The importance of diagnosis cannot be underestimated. Not only do you feel like you have something you can put a name to, but it opens doors, not least the ability to connect with others who have that shared experience and knowledge.  When I chat with parents as part of my work, we immediately have that shared bond, even if our child’s rare disease is very different. You just ‘get it’. 

There are so many barriers in place before you get a diagnosis, including from some medical professionals.  We recently gave a talk to medics. Whilst grabbing a coffee, a consultant said that he often saw patients in his clinic and, even if he knew what their condition was likely to be, he did not see a value in telling them.  This arrogance and lack of understanding needs to be addressed.  It is one of the main drivers for creating the ‘Journey of Hope’.  We wanted to open up dialogue about the importance of a diagnosis whilst also highlighting it is not the answer to all your problems. 

Does life become easier with a diagnosis?
From our experience one of the things that is important when you get a diagnosis is that you don’t only look at disease-specific information.  The answer to a problem often comes from other sources and other diseases.  Through our Rare Navigator service, we support families with any rare disease. It has been helpful in sharing ideas or solutions that others, often with very different diseases, have found works for them.  The knowledge within the rare disease community is vast and it is important it is shared across the spectrums.

 

You have spoken to and photographed numerous people with rare diseases. What have you learnt about the rare disease community?
Over the years I have spoken to so many people affected by rare disease, including parents, individuals affected and other close relatives. The word that jumps out is resilience.  The strength to keep on getting back up, even after the most incredibly difficult times, is awe inspiring. The rare disease community is always on hand to provide information, support and a big hug when needed.

Dr Giles Yeo says the biggest challenge is convincing people that understanding rare diseases benefits the whole of society. Do you agree?
Absolutely. Finding treatments for rare diseases that can be used for more common ailments is just one example.  In a world where people are often judged on what they look like rather than accepted for who they are, it makes it even more important that society is aware of rare diseases. Recognising the challenges people go through will ultimately lead to a kinder, more compassionate community. 

 One of the reasons I set up ‘Same but Different’ was to capture the person behind the condition rather than simply show their disability.  We use photography, video and written narratives that give the individual a stronger voice in their community.  Often, it’s the first time they have shared their very personal experiences. It has really helped others understand their challenges.

Who is your hero and why?
I am incredibly lucky that each day I get to work with my heroes. I know it sounds a bit corny, but my heroes are each and every parent whose child gets a rare disease diagnosis and has to carry on and fight for their child to access the treatments and support they need.  These are the parents who have to smile when they are condescended to. These are the ones who have to smile when their heart is shattering because, once again, their child is overlooked or underestimated. 

Where’s your favourite place in the world and why?
It has to be Finnish Lapland, a small ski village called Levi which is far above the arctic circle.  We had the most magical week’s holiday there.  It was the first time we went on a husky ride through the snowy forest at -21 and Isaac fell asleep on a sledge whilst we looked for northern lights.  A close second would have to be Tromso in Norway, again a magical place in the winter.

What is your greatest achievement?
Picking up the camera for the first time and having the courage to follow my dreams and change career in my 40s.  I would also say setting up an MDT for Moebius syndrome when one did not exist before.

What is your hope for rare disease?
I would hope that one day it is recognised for not being rare and, with that, people may be more willing to look at the overall impact these diseases have on health, education and the community as a whole.

Cambridge Rare Disease Network - Journey of Hope: Ceridwen Hughes at RAREfest20 1

Wellcome Genome Campus Lecture and Tour

Wellcome Genome Campus Lecture and Tour

Summit Patient Journey poster creators and Unique Feet parents on tour at the Wellcome genome campus. 

As part of our #CRDN2017 summit, 33 rare disease patient groups and individuals created posters for exhibition and inclusion in a Patient Journey poster book. As a thank you and an opportunity to meet others and to continue to learn, the Cambridgeshire based Wellcome Genome Campus Engagement Team treated them and some of our Unique Feet group parents to a fascinating presentation, a guided tour and delicious lunch.

Dr Steve Scott from the Public Engagement Team delivered an interesting introductory talk about the history of and the pioneering work being undertaken at the Wellcome Genome Campus.  Following Prof Matthew Hurles treated the group to a fascinating and informative presentation and discussion about the DDD Deciphering Developmental Disorders project. 

The group were full of curiosity and questions and we wished we could have stayed all day! 

Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 2
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 3
It was interesting to hear how they were re-looking at those not diagnosed the first time round and getting more results
Sue

Pitt Hopkins UK

Being a lay person I found the content easy to follow and definitely learned new information. 
Angela

Action Duchenne

Amazing! Really interesting and wish we had more time. It would be great for them to give us more understanding – why do genes go wrong? 
Sue

Unique Feet parent

What lessons were learnt from the DDD project?

Exome sequencing is cost effective for diagnosis now
Sequencing parents enables rapid, accurate interpretation
Sharing data across centres:
increases the accuracy of diagnosis
increases discovery of new genes
model for translational research in other disease areas
Informatics underpinning is essential
Up front capture of clinical information is critical
Expert-curated knowledge underpins clinical interpretation
Regular re-interpretation of undiagnosed patients
Barriers to translation into existing NHS genetics services

Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 4
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 5
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 6

Patient Centred Focus at Genomics Festival 30-31 Jan 2018 – Front Line Genomics

Patient Centred Focus at Genomics Festival 30-31 Jan 2018 – Front Line Genomics

In January 2018 CRDN visited the 2-day GenomicsFest at ExCel in London hosted by Front Line Genomics.

We heard inspiring talks and made great connections for the future. It was exciting to see Rare Disease charities and individuals taking to the stage to share the importance of genomics in diagnosis and personalised treatment and to give the science a human side.

The Transforming Genetic Medicine Initiative have written a great blog about the patient centred focus of the festival.  Check out the link to see how rare disease charities, individuals and advocates had their say. Many thanks TGMI for allowing us to share your blog and for ensuring patients and their advocates are at the heart of the conversation.

Cambridge Rare Disease Network - Patient Centred Focus at Genomics Festival 30-31 Jan 2018 - Front Line Genomics 7
Image from Front Line Genomics website