Two diagnoses and counting

Rare disease patients often face a difficult journey to diagnosis, commonly termed a ‘diagnostic odyssey’. This often involves moving from clinician to clinician, multiple misdiagnosis, unnecessary tests, and incorrect treatments. Saima Azam, medical student at University College London, shares how this diagnostic odyssey impacts patients’ experiences and relationships with their clinicians, as well as her thoughts on how this can be improved. The blog was originally written for Findacure’s Student Voice Essay Competition.

“I am very worried about my situation, I just want someone to tell me what is wrong with me.” – Mrs X

Mrs X is a 55-year-old lady who I had the pleasure of meeting in a nurse-led rheumatology clinic. She is the sole carer to her husband, who is registered blind and bedridden. As I took a history and examined this lady, I discovered that she had a range of seemingly unconnected symptoms. She complained of: red spots on the chest, nail changes of the toes, arthralgia of multiple joints, a lump in her throat, intermittent swelling of her nose and ears that pulsed uncomfortably. She had diagnosed Raynaud’s phenomenon, but no other medical history of note.

She was initially seen by her GP who referred her to the rheumatologist regarding the pains in her joints. She was seen by the consultant rheumatologist and diagnosed with ‘polyarthralgia’.

Polyarthralgia is a non-specific diagnosis. The Merriam-Webster dictionary describes polyarthralgia as ‘pain in two or more joints’. [1] Mrs X was then sent to the nurse-led rheumatology clinic, where I met her. The nurse-led clinic is primarily for patients with established uncomplicated diseases and routine follow-up.

Mrs X was very confused and worried about her symptoms. She felt passed on from one doctor to another, having not seen the same clinician repeatedly. She felt unheard by the doctors, because she wasn’t given a diagnosis or any treatment, or explained why she had not received either.

Mrs X was desperate for someone to validate her concerns. She repeated said phrases like, ‘Surely this isn’t normal!’. It was the rheumatologist’s opinion that this was an uncomplicated disease of joint pain, possibly fibromyalgia. Fibromyalgia is a diagnosis of exclusion, and is defined as ‘a chronic disorder characterized by widespread pain, tenderness, and stiffness of muscles and associated connective tissue structures that is typically accompanied by fatigue, headache, and sleep disturbances’. [2] It is often thought of as a psychosomatic illness.

Having met several patients with fibromyalgia, who often present with generalised joint pain and high stress levels, I was certain her symptoms were not caused by stress and had a unifying diagnosis. I expressed my concerns to the nurse in charge, and we agreed that this patient required further consultant input in regard to a definitive diagnosis.

My belief was that this was the manifestation of an extremely rare connective tissue disorder such as systemic sclerosis sine scleroderma. Systemic sclerosis is a rare autoimmune connective tissue disorder characterized by abnormal thickening of the skin. It may have specific features like calcium deposits in the skin, telangiectasia (red spots on the skin), Raynaud’s phenomenon, oesophageal dysmotility, and sclerodactyly (swelling of a finger). The exact cause of scleroderma is unknown, but genetic makeup may make an individual more susceptible. The early symptoms vary considerably, and often, Raynaud’s phenomenon is a common complaint in early systemic sclerosis. There are rarer types, including systemic sclerosis sine scleroderma, in which there is internal organ involvement without the skin changes. [3]

The nurse and I arranged for Mrs X to see the rheumatologist again. At the second consultation, Mrs X was given a tentative diagnosis of relapsing polychondritis, an extremely rare condition. The condition is characterised by recurrent inflammation of cartilage and other tissues throughout the body, commonly affecting the ears, joints, and nose. She was subsequently referred to an otorhinologist for further testing.

The journey so far has taken Mrs X the best part of a year. She expressed feelings of ‘loss and hopelessness’, as well as a feeling of ‘not knowing where to go, or what to do next’. She wasn’t sure which strange symptom would appear next, and she was also concerned that if she fell more seriously ill, who would take care of her husband.

While in the clinic, the nurse and I had a lengthy discussion about her symptoms and possible causes. I apologised to Mrs X for using jargon and not including her in the conversation, but she said she was thrilled that someone was discussing her case and trying to figure out what the disease might be. This highlights how important it is for patients to know what is being done to help their care.

Mrs X was pleading for someone to believe her and listen to her concerns and symptoms. The quality of a clinical encounter can be based on how well the communication is with the patient. Even in the case of no diagnosis or a wrong diagnosis, patients will feel satisfied if they feel they are heard and listened to, and have developed a good rapport with their doctors.  Validation of their symptoms is important.

It is the view of pain specialists that the pain is where a patient says it is, and it is of the severity a patient says it is. Similarly, when searching for a diagnosis, the same empathy and attention to symptoms should apply. Even once the correct diagnosis is found, Davies et al. (2003) and Anderson et al. (2013) noted a lack of emotional support and inadequate information were main factors for negatively perceived sessions for patients having counselling for genetic conditions. [4]

Continuity of care may help in these situations. Especially in cases of no diagnosis but non-abated concerns, it may improve the patient clinician relationship to see the same doctor when followed-up. Building a rapport is key to a diagnosis, as the common saying goes that 90% of diagnosis are based on the history taken from the patient.

As many rare diseases are genetic, patients can present with a variety of seemingly unrelated symptoms. As was the case with Mrs B, she might present to some clinicians with skin problems and nail changes, and others with arthritis and Raynaud’s phenomenon. The onus is on of each clinician to not assume that no current diagnosis does not mean no underlying cause, and take a full exam and history again to avoid missing important signs and symptoms. In these cases, a full systems review would be relevant and key to a thorough assessment, as well as an explanation to the patient as to why they are repeating tests and investigations.

While people waiting for diagnosis, it may be worthwhile to organise check-ups with their general practitioners (GP) too. Once patients are referred on to secondary centres, their care for that problem is almost exclusively taken over by that hospital. Occasionally, if the specialist cannot find something wrong related to their speciality, they are discharged from clinic and sent back to the GP to manage. If patients were to communicate with their GP during this time, long periods between seeing the patient could be avoided.

A consultation with the GP gives them a chance to review the current clinic letters. Often, if there are several hospital clinic letters, the GP will not have time to read all of them. If regular appointments were made, the information could be passed to them in chunks so they have a better idea of the well-being of the patient. GPs also provide an opportunity for pastoral care from a position of stability, as patients can always return to their GP. In summary, in the case of no diagnosis or multiple diagnosis from hospital, the GP may become an important point of contact to fall back on for the patient.

Because patients with rare diseases experience the medical system differently to other conditions, they also provide important perspectives on developing therapeutics and screening tools. [5] Therefore, to improve services for other patients with rare diseases, it is important to rely on the currently known patients as a wealth of information. While in widely prevalent conditions, doctors may know more about symptoms and pathogenesis than the patients, the same does not follow for rare diseases. Due to the low prevalence of the disease, patients are forced to become an active and vocal participant of their care. In a number of interviews with patients with rare diseases like amyotrophic lateral sclerosis, Duchenne muscular dystrophy, epidermolysis bullosa, Marfan syndrome, interviewers concluded that it was important to acknowledge the essential role of the patient as an informed, involved and interactive partner in the treatment process. [6]

For patients with rare diseases, multiple misdiagnoses and tests are an unfortunate inevitability. Maintaining a good line of communication with patients, whether by ensuring the same consultant reviews them in hospital, or by encouraging regular GP appointments, is essential in enforcing a good patient-clinician relationship and ensuring continuity of care. Keeping patients updated on what steps are being taken to find the cause of their symptoms will also help patients to feel at ease.


[1] “Polyarthralgia.” Accessed November 9, 2017.

[2] “Fibromyalgia” Accessed November 9, 2017.

[3] Scleroderma – Accessed November 9, 2017.

[4] Helm BM. Exploring the genetic counselor’s role in facilitating meaning-making: rare disease diagnoses. J Genet Couns. 2015 Apr;24(2):205–12.

[5] Basch E, Bennett A V. Patient-reported outcomes in clinical trials of rare diseases. J Gen Intern Med. 2014 Aug;29 Suppl 3:S801-3.

[6] Budych K, Helms TM, Schultz C. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient-physician interaction. Health Policy. 2012 May;105(2–3):154–64.

Drug Repurposing for Rare Diseases 2018

As an events organiser, my advice is this – expect the unexpected, and prepare for it. In my almost-two years here at Findacure, this has included everything from broken down printers, last-minute venue changes, and forgetting the infamous Findacure bell. But there’s one thing that even a supreme organiser (self-proclaimed title) like myself can’t prepare for. And that’s snow!

With the “Beast from the East” looming upon us, threatening to bring much of the UK to a halt, myself and the Findacure team found ourselves immensely worried about how this would affect our biggest event of the year – the Drug Repurposing for Rare Diseases conference.  As always however, the rare disease community is not to be underestimated! Despite the difficulties, 100 delegates joined us to discuss advancements in drug repurposing, share progress and ideas, and, importantly, celebrate Rare Disease Day 2018!

Excitingly, for the first time, I had the pleasure of opening the conference, and following a brief welcome from me, our CEO Rick Thompson took to the stage.

Rick shared why Findacure believe drug repurposing is the future for rare diseases, highlighting the efficiency of utilising drugs which are already available, eliminating the costly time consuming process of de novo drug discovery. Using these drugs also means safety and side effect checks have already been made, which can reduce the requirement for early stage clinical trials – allowing patients to access treatment quicker and cheaper. Rick went on to overview Findacure’s drug repurposing activities over 2017, including a literature review of published examples of repurposing in rare diseases, and the results of our Rare Repurposing Open Call. Finally, Rick introduced the MCDS therapy project, a Horizon 2020 funded five-year clinical trial for the repurposing of carbamazepine for the treatment of metaphyseal chondrodysplasia type schmid, a rare bone condition. The project has partners spread across Europe and Australia, and Findacure will play an exciting role disseminating information to patients, the wider rare disease community and the general public, as well as helping to build the MCDS patient community. Watch this space for future news!

[Download Rick’s slides][Listen to Rick’s presentation]

Next to speak was Caroline Kant. Caroline is one of the founders of EspeRare – a Swiss not for profit foundation, dedicated to drug repurposing. EspeRare’s unique model evolved after Caroline’s own experiences, firstly as a mother to a daughter with a rare condition, and secondly as a member of a pharma company who had identified repurposing opportunities only to see them rejected on business grounds. EspeRare secures the rights for compounds that are shelved by pharma,  and develops them for completely new rare indications. Once early clinical evidence of efficacy is secured, the Foundation looks to re-licence these drugs back to pharma, who can then bring them to market. In making such deals EspeRare is able to have some influence over patient access, and the visibility of research data. This model is already proving successful, and Caroline’s talk certainly captured the interest of our audience.

[Download Caroline’s slides]

Next to speak was Tracy Lynch, Co-founder and Chief Executive of Wolfram Syndrome UK (WSUK). At the age of two, Tracy’s daughter began experiencing choking attacks, as well as problems with her bladder and eyesight. Following many years of medical appointments, scans, and referrals she was diagnosed with early-stage diabetes at six year old, however this did not explain all of her symptoms. After three more years of tests and a muscle biopsy, she was diagnosed with Wolfram Syndrome. Tracy and her family walked away from their appointment with very little information on what this meant for them and their daughter’s future, what support was available or how to move forward. Finding nothing further online, Tracy began looking for other people affected by Wolfram Syndrome and made the decision to set up a support group, with WSUK becoming an official charity five years ago. Tracy then found Prof. Tim Barrett at Birmingham Children’s Hospital, who was researching the condition, and setting up a multidisciplinary clinic. Since then, Prof. Barrett has been involved in a project to repurpose sodium valproate in wolfram syndrome patients to halt or slow down the disease progression. Last year, in 2017, this was approved for a clinical trial. Despite approval, progress in starting the trial has hit several hurdles – including the cost of the drug rising from £150,000 to £500,000. They are currently waiting, with the hopes of starting recruitment in April of this year. WSUK has been involved in fundraising for this trial, including funding pre-trial research and setting aside £33,000 to cover costs of patients attending the clinical trial. Tracy’s talk hit home with many of our audience – epitomising the determination of rare disease patients and their families.

[Download Tracy’s slides][Listen to Tracy’s presentation]

Next came a talk from our Headline sponsor, HealxHealx is a Cambridge-based start up focused on identifying new repurposing opportunities for rare diseases in collaboration with patient organisations. They have a data driven approach to finding drugs to move into rare conditions and have been working with several charities over the past few years. Michale Bouskila-Chubb, Head of Business Development, shared one of their latest success stories in her conference talk. In partnering with the US group for Fragile X, FRAXA, Healx has been able to identify a number of generic compounds that have potential to treat this condition. Excitingly, FRAXA were able to test these compounds in their own US labs in their Fragile X model systems. One showed such promise that the patient group are now planning to fund a clinical trial into its effect on patients.

Our last speaker before lunch was Mike Briggs, Professor of Skeletal Genetics at Newcastle University. Mike is part of the team leading the MCDS therapy project, introduced earlier in Rick’s presentation. In patients with MCDS, the gene that contains the instructions for producing the protein collagen-10 is faulty. Collagen-10’s normal function is to direct the growth of bones, but the faulty gene in MCDS patients causes it to misfold. This misfolding means collagen-10 cannot escape cells (or more specifically, the endoplasmic reticulum, which is the part of the cell that folds and releases protein molecules) where it should form the hard bony matrix. The build up in the cells causes endoplasmic reticulum stress, while the lack of collagen outside causes the flaring of the ends of bones, and joint misalignment. This leads to a great deal of pain for patients, and has a large impact on their quality of life. Pre-clinical work in both mouse and cell models showed carbamazepine, a drug originally used as an anti-epileptic in the 1960s, reduces endoplasmic reticulum stress and flaring of the ends of bones. It also increases growth velocity and bone length. The researchers secured Orphan Drug Designation for this use of carbamazepine in October 2016, and in December 2017, they received funding from the EU’s Horizon 2020 grant to run a full clinical trial. Mike gave a great explanation of the science behind the trial and plans for its future

[Download Mike’s slides][Listen to Mike’s presentation]

Following lunch, we reconvened for a talk from Emily Crossley, Co-founder and Joint CEO at Duchenne UK. Emily explained how her life changed when her eldest son was diagnosed with Duchenne muscular dystrophy, a genetic muscle wasting disease, which almost always affects boys. Following diagnosis, Emily and her family were faced with a choice – accept the disease, or fight it. They chose to fight it. Emily promptly set up Duchenne Children’s Trust and in 2016 merged with Joining Jack to form Duchenne UK. Over five years, Duchenne UK (under its previous banners) has raised £10 million, and committed almost all of this to funding research and trials. In 2013, a paper was published looking at tamoxifen, a breast cancer drug, as a treatment for Duchenne and pre-clinical studies proved positive. Last year, Duchenne UK provided funding for a trial coordinator to run a clinical study, and as a result of that funding the trial will now happen in the UK. Duchenne UK also worked with the trial team to increase the eligibility of those considered for the trial, and have funded an additional study to allow non-ambulant patients to take part. Emily highlighted the advantages of being involved in the trial, as well as the challenges they’ve faced and lessons learnt along the way, including being realistic about cost, timeframes and regulatory demands, and making sure you have in-house expertise. Emily also echoed a long-held belief of Findacure’s – that funding research into rare diseases can also lead to answers in common diseases. Emily’s presentation showed just how important patient organisations and charities are and how they really can lead the way in drug repurposing for rare diseases.

The final talk of the day came from Feruza Nasirova, who represents the pharmaceutical company Novartis. Drug repurposing is a fantastic strategy for patient groups and academics, but it is also being employed by pharma. Feruza shared the story of Novartis’ work in bringing one of their existing drugs to tuberous sclerosis patients. Tuberous sclerosis is a rare condition that leads to the formation of benign tumours throughout the body, with particular issues in the kidneys, brain, and skin. Novartis worked in collaboration with both patient groups and academia to take a drug traditionally used as an immunosuppressant for transplants, and use it to treat tuberous sclerosis tumours. The programme has been running for over 10 years, and Feruza shared the vital role that patient groups played in the process , and Novartis’ continued commitment to the condition by developing a global registry for tuberous sclerosis.

Of course, no Findacure conference would be complete without our lightning talk session. In total, six delegates took to the stage for our infamous five-minute challenge. Our first challenger was Findacure’s go-to photographer, Barbara Asboth, who introduced her “1 in 17” project, aimed at documenting the everyday lives of rare disease patients through a series of photographic essays. Richard Hampson, CEO of Thelial, introduced his work to understand the biology of junctions between cells, and how he hopes to repurpose compounds to treat multiple rare conditions that are influenced by cell junctions. An impromptu addition to the programme, Jens Harald Kongsoe, Founder & Strategic Lead of Clinical Survey Outcomes, presented on the importance of obtaining patient feedback in developing medications, and how collecting this early on can influence and improve the presentation of drugs in subsequent trials.

Barbara Asboth [slides/presentation]
Richard Hampson [slides/presentation]
Jens Harald Kongsoe [presentation]

Following on, Rod Hall, Managing Director of Mucokinetica, shared an exciting drug opportunity for cystic fibrosis – repurposing MKA 104, a drug which has been in clinical use in Japan for several decades as an intravenous anticoagulant therapy. Our penultimate lighting speaker was Lucy McKay, the at-time founder of Students4RareDiseases (S4RD). Lucy announced the fantastic news of S4RD’s graduation, to become Medics4RareDiseases the following day (Rare Disease Day). Medics4RareDisease is a great organisation, encouraging students and doctors in training to consider rare diseases and improve the patient journey. Lastly, we had Prof. Tim Barrett, who joined us from the University of Birmingham. Tim, who also spoke at our 2017 conference, shared the rare disease progress taking place in the West Midlands and the model they are hoping to implement to increase the number of rare diseases with available treatments.

Rod Hall [slides/presentation]
Lucy McKay [presentation]

Finally, we ended our conference with the awards for our 2017 Student Voice Essay competition. This was our biggest competition yet, with more entries than ever before. Mariam, Rupa, and Simon are all deserving winners, whose essays are now published, and we are so pleased they could join our conference and publically celebrate their achievements.

After a long and enjoyable day of discussion and conversation, we finished the day with a well-earned glass (or two) of wine at our networking reception. This year’s conference was a great success, and at very least showed that the fight against rare diseases won’t be stopped by a little snow. The whole programme really worked to highlight the central role that both patient groups and academics are playing in driving drug repurposing projects forward in the rare disease space. There are many different approaches to deliver this type of research, but all are grounded in a collaborative approach that unites patient experience, scientific understanding, and business knowledge. We are excited to see how this pattern will bring real impact to patients in the future.

The whole Findacure team would like to say a huge thank you to all of our speakers, lightning talk speakers, sponsors, volunteers and delegates for making this event possible, our photographer Barbara Asboth for her wonderful photography, and the Royal College of Nursing for their excellent hospitality. If you’d like to see photos from our conference, you can find them here on our Facebook page. 

With thanks to our sponsors

Headline sponsor




We would like to say thank you to our sponsors for providing financial support for this event. This event has been solely organised by Findacure and our sponsors have not determined the content or organisation. All funds received by pharmaceutical companies have been used in accordance with the ABPI code.

Student Voice Essay Winners Published for Rare Disease Day

Rare Disease Day is hugely important to the rare disease community. It gives us a chance to unite and speak with a single clear voice, highlighting the problem of rare conditions to the world. One way that Findacure hopes to contribute to this global conversation is with the publication of the winners of our Student Voice essay competition. We announced our winners in our blog in January, and on the 27th of February all three attended our annual conference to learn more about rare diseases, and to receive their certificates. Now, thanks to our partners at BioMed Central and Orphanet Journal of Rare Diseases, you have the chance to read them in full.

Over the last week they have been releasing the essays of our two runners up and one additional entrant as articles on their On Medicine blog. Our overall winning article was also published as an open access article in Orphanet Journal of Rare diseases. You can check out all the pieces using the links below – please feel free to share these essays as widely as you can. Every read will help to raise awareness for rare diseases, and increase student engagement in rare disease treatment and research.

Finally, another of our entrants’ essays was selected for publication as a blog by our competition judges. George Wood’s essay, entitled “Collaboration is helping medical professionals and patients with rare diseases to face their challenges”, was highly rated by our team, and while he was not selected as a winner, we are very pleased that you can read his piece now on the On Medicine blog.

We’re very proud of our essay competition winners. Both their interest and insight into rare diseases give us huge amounts of  hope that there will be an ever increasing number of clinicians and and researchers with an understanding of the unique challeneges rare disease patients face each day. In the meantime we plan to continue to raise awareness about rare conditions wherever we can, and tell the world why Rare Disease Day matters to us.

Findacure would like to thank our essay competition sponsors, Costello Medical Consulting Ltd, Linguamatics, and TranScrip Partners, for their financial support. 

Meet the Team: 2018 Cambridge Half Marathon

This week’s blog continues our ‘Meet the team’ blog series, introducing our fundraisers to the Findacure community.

Meet our 2018 Cambridge Half Marathon team!

On Sunday 4th March, 7 wonderful Findacure supporters will be taking on the 13.1 mile challenge of the Cambridge Half Marathon. In this week’s blog we introduce a few of our team members and hope you will join us in welcoming them to the Findacure community.

Erin Austin

Can you tell us a bit about yourself?
I was born and raised in Cambridge but I’m actually half American so I was raised on grits and cornbread as well as Chelsea buns. I’ve returned to Cambridge to work as a GIS Analyst after leaving for 3 years to study in St Andrews. My second home is the Scottish Highlands, where I can sometimes be found being dragged around the hills by a little cocker spaniel.
Why did you choose to run the Cambridge Half Marathon for Findacure?
When I first met Libbie (Findacure’s Projects and Communications Officer) she was doing a crazy sponsored super triathlon for Findacure. I don’t think I’ve ever met someone with so much enthusiasm for their cause – I was inspired! I love supporting small and local charities and the team at Findacure has been incredibly passionate, friendly and enthusiastic. Running my first Half Marathon in Cambridge as someone who has grown up here is really exciting – I’ll get to run past the street I was born in – not to mention I know the course well so might be less of a liability?
Have you taken part in any similar events before?
No, never – this is not only my first Half Marathon, but also my first proper running event. I’ve only been running for 2 or 3 months now!
What is your favourite music to run to?
Mostly I don’t run with music as I’m accident-prone enough as it is, but if it’s going to be a long, slow, gruelling run I’ll switch on some Oh Wonder to keep me going.
What are your other hobbies?
Before I started running I played netball, squash and cycled everywhere to keep fit (this also comes from living in Cambridge one’s whole life). I volunteer with some local conservation charities, write the codeword for my local newsletter and I’m also a big fan of Fantasy and Sci-Fi.

You can find Erin’s fundraising page here.

Laura Cliss

Can you tell us a bit about yourself?
Hi, I’m Laura and I’m 28 years old. I’m a primary school teacher. I did my teacher training in Cambridge then taught locally for a few years before moving abroad to teach in Slovakia last year. I will always call Cambridgeshire home though!
Why did you choose to run the Cambridge Half Marathon for Findacure?
Findacure is an amazing small charity. I was so shocked to find out that rare diseases affect so many children’s lives. The charity’s work in building a community to support them and drive change to improve their lives is so valuable and important. If I can play a small part in raising funds and awareness, I’m proud of that.
Have you taken part in any similar events before?
I have never been a runner but a couple of years ago a friend dragged me along to Cambridge parkrun…and that’s when I realised it could be fun and I could do it! Still, I have only ever ran a 12km race before so a half marathon is a serious challenge!
What is your favourite music to run to?
I have a rather eclectic mix of music on my running playlist – everything from Sia to Muse to a sprinkling of Linkin Park! I like anything with a strong beat and powerful vocals to help keep me going!
What are your other hobbies?
I love being lazy and active in equal measure – reading, watching films, spending time with friends and family (and cats), exploring new places, skiing in the winter.

You can find Laura’s fundraising page here.

We would like to say a huge thank you to all our fundraisers, including Wendy Breakey, Jessica Breakey, Chris Hill, Andrew Warburton and Andrew Dibben. If you’d like to show your support you can find their fundraising pages here.

Speaker feature - Conference 2018

Findacure’s annual conference, Drug Repurposing for Rare Diseases, is fast approaching and the anticipation is building here at Findacure HQ. In today’s blog Rick takes a brief look at some of the speakers who will be sharing their insights on the day.

Findacure’s conference is always a fantastic day, with a hugely diverse audience, a warm atmosphere, and details of some exceptional projects in rare disease repurposing. We hope this year will be no different – we have certainly managed to compile a diverse programme that touches on the impact that patient groups, big pharma, biotechs, and academics can all have in delivering new therapies to those most in need. Let’s take a closer look at three of our speakers as a small preview of the day.

Tracy Lynch – Co-founder and Chief Executive of Wolfram Syndrome UK

Tracy and her family officially entered the rare disease world after her daughter, Jennifer, was diagnosed with Wolfram syndrome in 2010 at the age of 8. Wolfram syndrome is a rare degenerative genetic condition that affects children from around the age of 5. Patients generally present with difficulties in regulating blood sugar (diabetes mellitus) and visual impairment. Over their teenage years their eyesight tends to degenerate, leaving most children blind, with deafness likely to follow. No one patient has the same journey with the condition though, and Jennifer’s has been markedly different from the “average” route.

In response to the diagnosis and the challenges her family faced, Tracy and her husband set up Wolfram Syndrome UK to provide support to those families living with Wolfram Syndrome. They work to support patients, raise awareness for the condition, and raise funds for research. Their annual conference has proved hugely successful, creating a connection between the patients and researchers around the world. It was at one of these events that the concept of a repurposed treatment for Wolfram Syndrome was first born in the mind of Prof Tim Barrett in response to the need of the Wolfram community. Now they are on the verge of their first clinical trial, with Wolfram Syndrome UK working closely with the researchers to support the project.

Tracy will share her story with us, from the trials of diagnosis, through the formation of the charity, to the verge of a clinical trial. We will hear about their hopes for that trial, and the outlook for Wolfram patients in the future.

Prof Mike Briggs – Professor of Skeletal Genetics at Newcastle University

Mike has a long standing interest in skeletal genetics, and rare skeletal diseases. As part of his research he has been involved in identifying a key mechanism underlying a number of different rare bone growth disorders – ER stress. Mike and his colleagues have worked to identify a treatment that can target ER stress in the bones, and have identified an existing drug that shows results in both cell and animal models. Based on these results Mike has worked to form an international consortium to deliver an academic led clinical trial to treat a specific skeletal condition – Metaphyseal Chondrodysplasia Type Schmid (MCDS). Mike’s talk will cover the process of forming the collaboration, securing EU finding, and getting EMA protocol advice to design and deliver a clinical trial for MCDS.

Dr Feruza Nasirova – Therapeutic Area Medical Head for Rare Diseases and Early Pipeline, Novartis UK

Feruza is representing the big pharma perspective on drug repurposing at our conference. In many cases drugs that are still under licence within a company could benefit a number of conditions, but doing the necessary research can be viewed as either too expensive or too risky. However there are a number of cases where companies have moved a licensed drug into a rare indication, providing significant patient benefit. Feruza will share Norvartis’ journey in developing one such drug for the treatment of the rare disease Tuberous Sclerosis Complex. In this project the company worked closely with patient groups to deliver the treatment. We will hear an industry perspective on this type of collaboration, working in the rare disease field, and thoughts on repositioning as an approach for big pharma.

We have many more talks on the day, including our lightning talk session that features six short talks proposed by our conference delegates. If you’d like to learn more, or to attend the day, check out our Eventbrite page and sign up before the 20th of February.