Frontline Genomics interview CamRARE MD, Jo Balfour
Jo, one of the founding members and current Managing Director at Cambridge Rare Disease Network (CamRARE) talks to FLG about her collaboration with Medics4RareDiseases and Rare Revolution Magazine to bring together a cross sector group of experts and advocates newly named ARDEnt (Action for Rare Disease Empowerment) to produce a report called “Future Proofing Rare Disease Care, Research, and Treatment.” The report aims to highlight the risks, gaps and opportunities presented by COVID-19 for the rare disease community.
Frontline Genomics: Please can you tell me a little about the mission of CamRARE and the work that you do?
Jo: Ultimately, we want to see a world where diagnosis, treatment and care for those living with rare conditions is exemplary. We want patients to be able to live independent and fulfilled lives, wherever possible. Unfortunately, there is still a very long way to go to achieve this vision. Despite leaps forward in genetic sequencing and diagnostic tools, diagnosis still takes an average of over four years. Once patients are diagnosed with rare diseases, the care pathways are usually unclear and 95% of patients still do not have a dedicated treatment. Many patients and their families struggle to know where to look for help or expert information. The term “rare” unfortunately means lacking in information, knowledge and professionals that are able to provide support. CamRARE acts as a bridge to help patient groups to gather support and connect with other stakeholders (such as pharmaceutical and biotechnology companies) to ensure the patient voice is firmly embedded into the generation of solutions to the various problems they face from diagnosis to care and treatment.
Frontline Genomics: It is clear that people with rare diseases are already facing difficulties in accessing the right healthcare services. How has COVID-19 affected the rare disease community?
Jo: We believe that the COVID-19 pandemic and the global response to it has disproportionately affected the rare disease community. For example, families caring for loved ones with rare conditions have been left feeling more vulnerable and isolated as the support network that is usually available, such as educational healthcare plans (EHCPs) and routine healthcare services, are temporarily suspended. Having to navigate the unexpected changes caused by the pandemic as well as shielding due to health vulnerabilities and home educating children who would ordinarily benefit from significant support in school, has put greater pressure on families. We are uncovering that research into rare diseases, clinical trials and drugs awaiting regulatory approval have been deprioritised, postponed and in some cases cancelled. Genomic services that would ordinarily have been available to families awaiting a diagnosis have been put on hold and resources diverted to COVID-19 projects.
Frontline Genomics: What led your team to produce your upcoming report?
Jo: The report is a direct response to the struggles that the community are facing during this pandemic. It aims to discover what is broken and what has stopped working in an already fragile ecosystem. We want to be able to provide an overview of the impact whilst recommending solutions to address the damage caused, not only for patient groups, but also for other stakeholders, such as biotech and pharmaceutical companies, that are actively working towards a treatment for patients. We are working collaboratively through ARDEnt with representatives from other charities, with healthcare professionals, representatives from the pharmaceutical industry and regulatory bodies to uncover the bigger picture showing the long-term impact of COVID-19 on the rare disease community. This cross-sector collaboration enables us to share experiences and knowledge and develop creative solutions for the problems faced by the rare disease community now and into the future.
Frontline Genomics: What do you hope to achieve with the report?
Jo: After consultation with cross-sector stakeholders in the rare disease field we have identified 3 priority areas to focus our data collection on which tie in with the UK Rare Disease Strategy which is due for review and republishing in 2020 (but is currently on hold). We aim to develop this report in order to influence the development of this new strategy to ensure the new opportunities emerging are included:
Delayed diagnosis Coordination of care Drug development and access to treatment Reassuringly, the response to the pandemic has brought about some opportunities for better working practices which will work in the favour of rare disease patients. For some time, the emergence of digital communication and tele-health has given hope to those living with rare diseases of accessibility to their health care professionals and reduced travel to appointments. Patient groups have challenged the traditional drug development timeline and methods which don’t work in the favour of rare disease patients who are widely spread and are running out of time with progressive diseases. This pandemic has led to an almost overnight digital health revolution and a rethinking of how we can develop drugs when there is a time imperative. Could this be replicated for rare diseases in the future? It is crucial these lessons are highlighted and adopted. A precedent has been set that we can use to the benefit of rare diseases.
Frontline Genomics: Could you tell me more about the U.K. Rare Disease Strategy 2020?
Jo: The first strategy was published in 2013, a national commitment to improve services and research for the rare disease community. The four devolved governments developed their own implementation plans from the policy to move things forward for the rare disease community. A new strategy was due to be published this year but is temporarily stalled because of the pandemic. We therefore want to take this opportunity to influence and improve the strategy and ensure it reflects the current situation. The new strategy needs to address the fact that the system was fragile prior to COVID-19 and has been further damaged. It should prioritise and focus on achievable goals to ensure it has the desired measurable impact.
Frontline Genomics: What are the next steps for the report?
Jo: We are in the process of undertaking an extensive literature review, collating data from a range of major surveys and studies, conducting interviews with key players, and identifying case studies. The report is expected to be published in December 2020. It is important, however, that this report is not seen in isolation so we will continue to monitor the situation for patients as the situation evolves and plan to be publish follow-up reports after six and 12 months.
Frontline Genomics: How can people who are interested get involved in the report?
Jo: We’re keen to discover how the different stakeholders have adapted and generated creative solutions in response to the pandemic. We are particularly interested in hearing from researchers and companies whose work in rare diseases has been impacted. Have your research studies, clinical trials or drug development projects been postponed or cancelled? Have you been able to make creative adaptations, are you adopting new methods to enable virtual clinical trials, or have you other ideas which could translate into more effective, efficient outcomes which would allow for a continuation of services in a future crisis? You can contact me at jo@camraredisease.org to discuss becoming involved or to arrange an interview as part of this project.
From speaking with Jo, it is clear that collaboration is at the heart of CamRARE and this upcoming report. Productive conservations from multiple stakeholders are needed to generate innovative and tangible solutions. They are the ones who are influenced by and influencing the progress made in the rare disease community. Therefore, it is important that their voices are amplified. It takes a team of passionate individuals to change the status quo and I urge you to contribute in any way that you can!
The COVID-19 pandemic has altered the lives of just about everyone, especially patients in receiving continued treatment and care. But what does it mean for patients who already have trouble accessing therapies or with finding and engaging with others like them?
The novel coronavirus, and the international response to the pandemic, pose significant and in many cases disproportionate threats to the rare disease community, given the vulnerability of those with chronic health conditions and the additional challenges being presented that affect their ability to weather this storm.
The rare disease community is one already facing significant challenges in obtaining early and accurate diagnoses and in accessing medicines and treatment, and their lives are all too often blighted by poor knowledge and understanding of their condition, leading to feelings of isolation and anxiety. They often have to navigate their way through unclear care pathways to obtain the support they and their families need; and now, with the additional threat of COVID- 19 on their health, the confusion and creeping isolation triggered by lockdown, and the stress placed on health systems, R&D and the pharma industry, the challenges appear more abundant than ever.
In the US, the National Organization for Rare Disorders (NORD)’s recently released COVID- 19 Community Survey Report reveals the far-reaching impact the pandemic is having on rare patients and families. 772 participants responded to the survey conducted by NORD’s research team from I April through 8 April, representing 49 of 50 states and Washington, DC across multiple disease categories.
The findings reflect a community directly affected and overwhelmingly concerned about the COVID-19 crisis. At 98%, almost all respondents were worried about COVID-19 and, it would appear, with due cause. Among the respondents, 95% said their families had been directly impacted due to COVID-19: 74% have had medical appointments cancelled; 59% had been offered a telephone or video call as an alternative to an in-person appointment; 69% were concerned about medication and medical supplies being in short supply; 29% had lost employment temporarily or permanently, and 11% of those job losses resulted in loss of health insurance too.
EURORDIS has released the preliminary findings of its first multi-country survey on how COVTD-19 is affecting people living with a rare disease, concluding that “the pandemic greatly hinders access to care”. They report that 5,000+ rare disease patients and their family members from all EU countries and beyond, representing 993 diseases, responded to the survey carried out via their Rare Barometer Programme. The preliminary results are based on survey responses submitted between 18 and 28 April and very similar themes emerge to those noted in the US.
EURORDIS reports that since the beginning of the COVID- 19 pandemic, nine in 10 rare disease patients have experienced interruptions of the care they receive for their condition and three in 10 perceive that these interruptions of care could definitely (one in 10) or probably (two in 10) be life-threatening. More than half of those awaiting surgery or transplants have seen these interventions cancelled or postponed and 80% have seen their appointments for rehabilitation therapies such as speech and physical therapies – sometimes the only therapies available when treatments are not – postponed or cancelled. Patients who usually receive care in hospitals are experiencing specific difficulties, with almost three in 10 reporting that the hospital or unit that normally provides care for their rare disease ls closed. Half of respondents had participated in online consultations or another form of telemedicine since the start of the pandemic; this is new for two in 10 patients. Almost nine in 10 of those utilising this type of consultation are happy with the experience and that it has been very or fairly helpful. In addition, the survey found that almost six in 10 reports they no longer have access to medical therapies such as infusions, chemotherapy and hormonal treatment at home or in hospital. More than 60% have lost access to diagnosis assessments such as blood or cardiac tests and medical imaging that arc often a vital part of their daily care. Close to seven in 10 have seen their appointments with the general practitioners or specialists cancelled, and almost six in 10 have seen their psychiatry follow-up interrupted.
Rare disease stakeholders from healthcare, patient advocacy groups and the pharma and regulatory industry from across the UK have been sharing their insights into disruption, risks and opportunities presented by COVID-19 in their sectors through a regular Zoom working group facilitated by Cambridge Rare Disease Network, Medics4RareDiseases and Rare Revolution Magazine. The group have identified a number of additional concerns for the rare disease community which will affect early diagnoses, access to research and treatments.
A member of the group flagged that there will be no appointments with clinical geneticists in many areas as these staff have been redeployed, whilst some genetic counsellors may have been doing some appointments by phone, but it is likely they could be redeployed too. It was also raised that face to face healthcare professional rare disease education has also ground to a halt, and this, alongside die lack of genetic testing, raises concerns that timely and accurate diagnosis of rare conditions is further impacted.
Members of the cross-sector group raised concerns about disruption to clinical trials and appraisal of rare disease treatments by NICE with patients in need of new treatment left waiting. At least nine rare disease treatment single technology appraisals and highly specialised technology evaluations are known to be delayed and a number of clinical trials of rare disease drugs on hold. For parents with children needing rapid solutions to degenerative diseases, these delays can mean the difference between life and death.
The rare disease community is familiar with isolation, issues with accessibility, and having to adapt so they are closely watching for opportunities arising from this crisis which may work to their advantage in the longer term. They’re largely welcoming the sudden, rapid uptake of telehealth which could mean less time and money wasted on travelling to appointments. They are watching with interest the adoption of health wearables and technology to monitor health in the home and hopeful that clinical trials may become more accessible if pharma companies adopt more virtual monitoring techniques in the future. They are also expectant that a rise in e-learning for health care professionals in bite-sized chunks will lead to a flurry of rare disease education packages and a more aware and knowledgeable community.
The Cambridge Rare Disease Network provides a window into the current experience of the rare disease community, and we catch up with three previous Pharmafocus contributors to see how the UK lockdown is affecting them.
Rebecca Pender’s daughter Hannah lives with the ultra-rare condition Inv Dup Del 8p: a genetic arrangement that affects just 80 people worldwide.
Rebecca Pender portrait photo
Have you been able to access necessary medicines through your normal routes, or have you seen shortages or other difficulties during this time?
We’ve struggled with getting access to one particular drug: IV Ativan. We normally source through the local pharmacy or hospital pharmacy, but both have had issues in providing medicines. We’ve also had delays with Lamictal, but not as long as with IV Ativan. We’ve also had several diagnostic appointments cancelled with no indication of when they are
likely to be rescheduled. All our appointments have been conducted over the phone except the ones which were cancelled, but I feel these could have been telehealth appointments too.
How are you and Hannah coping with having to stay inside during the lockdown?
Being so isolated from our support network has been difficult, especially as we are shielding for Hannah. The change of routine has been the toughest on the kids, especially for Hannah as with her learning disability she doesn’t understand what’s going on. I am also 35 weeks pregnant, so it’s been so difficult being unable to share the journey with the family. When the lockdown came in, I was actually really glad that rare disease patients were included in the shielding group. It felt like a win as so often in the rare disease community we fight for visibility, and this time we were seen and protected from the outset.
Do you have any concerns about the treatment of rare disease patients during this period?
People in the rare disease community are rightly concerned that they are at the back of the queue for lifesaving and life-prolonging treatments. I’m also concerned at the amount of rare disease patients who are being bullied into signing ‘do not resuscitate’ documents, and how many are being refused lifesaving medications and equipment supplies because of apparent lack of stock. Because so much is unknown with COVID-19, but also unknown with rare diseases, it’s even more of an enigma as to how the two will interact. Our rare disease causes learning disabilities, not an acute illness, so it’s worrying that our rare disease could be used as an excuse to withhold treatment.
Vaila Morrison’s nine-year old daughter Eilidh (Ej) was born with the ultra-rare condition KAT6A.
Unique Feet go horseriding
Have you had difficulty in getting hold of any medications that Eilidh needs since the lockdown began in the UK?
EJ is currently taking a supplement to aid her metabolic function. It’s a drug that has to be prescribed via hospital rather than primary care through a GP, and strangely that’s meant it has – so far! – been easier to access during this time. Normally its a bit of a marathon of phone calls to get the prescription, check the pharmacy has it in stock and then make a trip to visit the hospital outpatient pharmacy. The last batch of three months’ worth was delivered by the hospital pharmacy to our door within 24 hours of calling the consultant’s secretary.
Self-isolation has been trying for everyone, but it must be doubly so for rare disease patients. What has been your experience?
EJ has profound learning disabilities and doesn’t understand the reasons behind staying at home at this time. She obviously misses her friends and the fantastic staff at her school, and is missing out on all the specialist equipment and activities. However, shes a very content and happy person so she’s not been fazed at all by spending more time at home. We are very lucky to have a garden so she can spend a lot of time outdoors to provide a bit of variation, as well as some fresh air and vitamin D. The main challenge for us is balancing the differing needs of everyone in the family. EJ is in the shielding category, and as it’s impossible for us to social distance within the household, that means we are all shielding together.
Have mobile health solutions helped you overcome some of the challenges of getting health advice?
EJ had an annual multi-team review at the beginning of the lockdown phase. This was able to go ahead via phone consultation with us at home and the paediatrician, school teacher,
school nurse and physio at school. This ended up being really useful as we could ask some COVID-19-specific questions about what category we should consider EJ to be in, and they were able to advise us of a SEND-specific helpline they were intending to implement to support families like ours.
Many rare disease patients must be in a similar situation right now. Have you been in touch with other patients or carers during this time? Has it helped to break the isolation?
We’ve been part of SWAN UK since before EJ was diagnosed. We’ve found it to be a fabulous support network for families with children with undiagnosed conditions. It’s mostly via an online forum as the network is national and we are all sprinkled across the country. This has meant the mechanism for staying in touch hasn’t had to adjust on the whole, as we are all used to chatting via a Facebook group. This has been a great source of info on how people are coping and accessing services. We are also members of a super local network of families. Unique Feet is a group for families of children with rare diseases run by the Cambridge Rare Disease Network (CamRARE) in Cambridgeshire. We do chat on line, but normally would be meeting up to do a variety of fun activities with the children. CamRARE has been brilliant at adjusting to circumstances and have set up zoom yoga sessions and sent out two activity bundles to the children, including postcards for the children to keep in contact with each other. Being able to chat with other parents, locally and nationally, has been so useful for questions about health, staying safe, access to care and also practical things like how people shielding manage to get shopping delivery slots!
I’m sure you share the same concerns as all of us for your personal health and of those close to us, but is there another level of anxiety for rare disease patients when it comes to catching the virus?
We are fortunate that EJ has never had a particular predisposition to chest infections; however, very little is actually known about her rare condition. There are only about 200 cases identified so far worldwide so it’s ultra-rare. Eilidh has had heart patch surgery in the past and there seems to be a metabolic element to her gene change, so there’s always a worry that we don’t know how her body will react to a new disease. The emergence of information about children being affected by inflammatory disease related to COVID-19 is a particular concern. There is a real concern that in the event of an overwhelmed system, any-one with certain age-related “frailties” or an “underlying health condition” is potentially going to be offered palliative care rather than active treatment.
This concern extends to those with learning disabilities. Despite a number of statements from the top level to say that learning disability should NOT be considered as a reason not to treat I can’t help but worry that there’s still an unconscious – sometimes conscious – prejudice against those who don’t fit the ‘normal healthy person’ bracket and an assumption about their quality of life. There’s been quite a number of worrying articles about ‘do not resuscitate’ orders being placed without loved ones’ knowledge; care homes for people with learning disabilities not having access to testing and PPE and figures recently reported by BBC Breakfast about the higher rate of death due to COVID-19 among those with learning disability. As EJ has profound and multiple learning disabilities (PMLD) as part of her genetic condition, its therefore of huge concern to me that if the system is overwhelmed, she might not get access to the same care as a typical child.
Based on your first-hand experience, what do you think needs to be done to address the needs of rare disease patients during this unprecedented time?
As at any time, the healthcare system needs to look beyond the average person and ‘the way we normally do things’ and strive to ensure patient-centred care. Listen to rare patients and their families, who often know as much, if not more, about their particular condition than any health professional. Work with us, and please don’t make assumptions!
Isolation is common amongst those affected by rare disease. Disease specific and umbrella organisations provide vital services and connect isolated patients, but can regional grassroots communities play their part?
The diagnostic odyssey for rare diseases is well documented, people typically waiting an average 4.8 years for answers and receiving many misdiagnoses along the way[1]. The implications for patients and caregivers are manifold and commonly lead to feelings of isolation, anxiety, frustration and stress.
One would expect the receipt of a diagnosis to be a magic bullet, the beginning of a brighter future and of hope. But to discover that you or your child has a disease that is relatively unknown and poorly understood, leads to further isolation and unique obstacles.
The Forgotten Patients
Rare disease patients are too often the forgotten patients. Around 50% of rare diseases have no specific patient advocacy group supporting or researching their condition[2].
Being isolated,
marginalised and un-connected is highly toxic and can take its toll on the
collective mental health of families.
Desperately seeking
needles in haystacks
Disease specific
support groups help families to connect, share stories and seek advice from
others similarly affected. Often begun by families, they become significant,
impactful organisations providing support, driving awareness and funding research.
But is there a need
for a complementary regional, grassroots approach? Cambridge Rare Disease
Network has been holding multi-stakeholder rare disease events for five years
now and during that time has involved over 100 patient advocacy groups and many
more affected individuals.
Over time, a common
theme emerged. Although some were able to find comfort and empowerment from
interactions offered by disease specific or national umbrella groups, collectively,
they were searching for something else.
We want to be able to meet up regularly and do things with families local to us who understand our family.
Uniting communities
with common concerns
A serendipitous
invitation to take part in a charity ball led to the creation of our local rare
disease families, Unique Feet. Beginning with just four children, each with a
different rare condition, we worked with a dance teacher to create a moving
performance for the ball.
Friendships blossomed,
confidence bloomed, parents shared downtime, stories and ideas. Parents
admitted to sometimes feeling isolated within their local communities, feeling
misunderstood by schools and not catered for by local service providers.
They talked about
wanting their child to have friends who understood them and who didn’t judge
and to enjoy the company of local families who shared a unique understanding of
what it is to be rare.
Now 12 families strong and growing, meet regularly to do a wide range of activities from horse riding to yoga and birthday celebrations to seaside trips.
Sue Berry and her daughter Charlotte were unsure at first if this group was for them. Sue is now an active trustee of Cambridge Rare Disease Network.
Sue said “it can be important to find others with the same condition, but those families can be widely spread. Unique Feet is not about that. We want to be able to meet up regularly and do things with families local to us who understand our family”.
The role of regional grassroots communities
Uniting local
grassroots communities with common concerns helps reduce isolation. Problems
stop being unique and become a serious service issue to be addressed.
Unique Feet have
become friends offering acceptance, solidarity and support, but they have also
become the voice for families affected by rare disease in our region as they
become the group leaders, trustees of charities, they speak at events and
engage proactively with the media to share their collective story and invite
others to join them.
Cambridge Rare Disease Network is developing a complementary grassroot, regional approach to unite local rare disease communities.
[1] Engel et al., 2013 | [2] https://globalgenes.org/rare-facts/
As Rare Disease day 2020 approaches, we take a look at the biggest challenges facing orphan drug developers and ask whether the future is bright or bleak for these difficult conditions.
There could be as many as 7,000 rare diseases – defined in the EU as conditions that affect less than one in 2,000 people – but approximately 90% of them still have no effective treatments.
This is no small issue – as the common maxim goes, ‘rare diseases aren’t rare’. In Europe alone it is estimated that orphan conditions affect around 30 million patients, or around one in 17 people.
But many challenges still remain in research and market access for orphan drugs, and in fact recent analysis from GlobalData shows that the number of drugs awarded orphan drug designations (ODDs) by both the Food and Drug Administration (FDA) and the European Medicines Agency (EMA) has declined over the last six years, despite the benefits of these designations in speeding these drugs through development.
The EMA had a much greater decline in unique drugs awarded ODDs than the FDA, with a 49% decrease between 2014 and 2019, while the FDA only had an 8% decrease across the same time period.
“Orphan drugs are no longer under the radar and may be on a potential collision course with policymakers”
Quentin Hogan, GlobalData
“The FDA decline is however more surprising considering that 2017 was a bumper year for drugs awarded ODDs in the US, significantly beating previous records,” says Quentin Horgan, pharma analyst at GlobalData. “This large spike in 2017 for the US could be attributed to the FDA’s Orphan Drug Modernization Plan, which began in 2017 with the aim to clear out the backlog and streamline the ODD application process.”
The pricing question
There’s no doubt that rare diseases are an incredibly difficult area for any company to work in. The challenges are manifold, covering areas as broad as economics, research and disease awareness.
“There is an inherent economical challenge with rare diseases,” Dr Ron Jortner tells pharmaphorum. “As the market is, by definition, a small one, a company developing a treatment may find it hard to cover their costs, unless they charge a very high price for the drug, which in itself puts a huge burden on patients and insurers, and renders the treatment practically unavailable for many who need it.”
Jortner is a trustee of the Cambridge Rare Disease Network, a charity that aims to bring together stakeholders to aid treatment and care of orphan conditions. Jortner heads up the charity’s Companies Forum, which focuses on collaborations between industry stakeholders.
“The economical conundrum is a tough one to solve, it’s inherent and to some extent it will always haunt the field,” he says. “But there are ways to alleviate it.”
Regulatory pathways such as the EMA’s Orphan Designation are aimed at encouraging companies to take on development of drugs for rare conditions by allowing them a period of market exclusivity.
“Almost a third of all pipeline drugs are indicated for rare diseases”
“This type of solution alleviates the conundrum by making the outcome potentially more lucrative for the company,” says Jortner.
Another family of solutions aims to make drug development for rare diseases faster and cheaper – for example by offering some regulatory breaks.
“Regulators realise that for rare diseases, the risk-benefit balance should be different, because people have no existing treatment options,” says Jortner. “For example, an efficacy bar that would not justify approval for a common condition such as diabetes could still merit approval for a drug that addresses a rare condition with no treatment alternatives.”
Jortner says that another way to sidestep economic challenges in drug repurposing – where a molecule developed for a particular condition gets re-purposed for a rare disease – a process that is far cheaper than developing a new entity de novo.
Political challenges
The economic question, though, has become more pertinent in the last couple of years as political pressure on pharmaceutical pricing has intensified, especially in the US, where there is bipartisan support for new laws to lower drug prices.
“The impact of these political changes on orphan drugs is unclear,” Hogan says. “Despite the recent decline in the awarding of ODDs, the number of approved drugs with ODDs has increased as a proportion of FDA approvals over the last 20 years; orphan drugs are no longer under the radar and may be on a potential collision course with policymakers.
“This may be especially likely as the benefits of orphan drugs have recently been questioned by many, including Arthur Caplan, founding head of the Division of Medical Ethics at NYU School of Medicine in New York City, who in a 2019 JAMA article suggested that orphan drugs direct resources and focus away from more common and widespread diseases to treat illnesses with a very small patient pool.
“Yet the pharmaceutical industry has invested significantly in these drugs, drawn in by tempting ODD incentives that can extend market exclusivity and expedite approval processes of their products.”
Clinical trials
Beyond pricing questions, Jortner adds that there are additional challenges in clinical trials.
Because patients are few and often geographically scattered – and because clinicians are unlikely to have seen a disease before and be able to diagnose it – it may be hard to recruit enough candidates for trials, and expensive to arrange the logistics of the trial. Sometimes, he notes, a separate trial site needs to be set up just for one patient.
Jortner adds that regulators often have to accept that smaller patient cohorts, which would not be accepted for a more common condition, are necessary in orphan drugs.
Regulators still favour endpoints that can be compared to placebo groups, but not only is there a lack of established endpoints because of fewer trials in each rare disease, placebo groups are often also seen as unethical in orphan conditions – particularly those that affect children.
It may therefore be more appropriate to use a patient’s natural history as a comparator – but even this is difficult when we still lack information about many rare diseases.
“There are usually no natural history studies, very little scientific literature and few clinicians who have the expertise,” says Jortner.
He adds that another major factor exacerbating this is that there is often extremely low awareness of the disease, not only in the general public but also among healthcare professionals and the health system.
“This means that there is often no reimbursement pathway in some countries, and it’s very hard to make the case of the necessity of a treatment when no one has even heard of the condition.”
Luckily, Jortner says that many of the challenges are being addressed by the empowerment of patient support groups.
“These charities, often started by a patient family member, have gained enormous momentum with the rise of social media.
“Patient support groups have records and contacts to all patients, and often manage patient registries, through which they can make clinical trials recruitment far easier for companies. Patient groups also have great knowledge about the disease, its natural history, symptoms and care options – usually better than that of clinicians.
“And finally, the patient support groups raise disease awareness, by lobbying, talking to the media, publishing and organising events, facilitating the companies’ route to recognition and reimbursement. We are great believers in the power of patient support groups to help the industry overcome the above challenges – and by this, help make treatments possible for their own conditions.”
A thriving pipeline
Despite the myriad challenges, GlobalData’s analysis shows that almost a third of all pipeline drugs are indicated for rare diseases – suggesting that despite orphan drug designations themselves being on the decline, pharma’s enthusiasm for rare diseases has not waned.
The Cambridge Rare Disease Network believes that collaborative effort and stakeholder interaction are key for changing lives in rare diseases – with the Companies Forum focused on bringing industry players together to help ensure success in orphan drug R&D across the board.
“We bring together the main companies in the space, facilitate their interaction with patient groups, regulators and clinicians, and raise awareness of key issues and topics,” Jortner explains.
For example, because of the lack of awareness of some rare diseases, a company may have an asset in their portfolio that can address an orphan condition but might not have even heard of that disease. Another company or a patient group making them aware of it could lead to a new treatment.
Jortner notes an example of an interaction between a patient group and a company leading to an advance in drug development, with a drug now in Phase 2 to treat the fibrosis element of Alström Syndrome as a result of such interaction.
GlobalData’s analysis ultimately says that orphan drugs face an “uphill battle” in 2020 and beyond, but as gloomy as that sounds it’s hard not to remain optimistic – as it’s an uphill battle that the industry seems committed to fighting.
Monday 20th January 2020 is not a particularly memorable date but for the rare disease community it could be.
On this day Kay Parkinson, supported as always by her husband John, presented their story for the last time.
This is a story of how a rare disease can affect a family and how it can change their world for ever. It has inspired so many people because it is all about love, about parents never giving up and despite personal tragedy continuing to make a positive difference so others should not have to suffer the same experience.
This story has been presented at many rare disease congresses over the years. One of the reasons it is so powerful, is simply because it completely resonates with so many people affected by a rare disease.
There are approximately 8,000 rare diseases. Only a minority have a successful treatment. A rare disease may affect thousands of people or may only affect one person. Collectively rare diseases are estimated to affect three million people in the United Kingdom alone.
There is so much work to do to raise awareness, to ensure successful diagnosis rates are vastly improved. The families and rare communities all hope that many more successful treatments are developed and that they are all accessible.
This work is happening and is growing, but so much more still needs to be done. Kay is simply an inspiration. This video is a tribute to her husband John, their children Matthew and Charlotte and ultimately to Kay, an amazing lady who has never given up and whose story through this video will hopefully continue to inspire for generations to come.
This video has been supported by Sobi and created by Bmore group.
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.
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.
‘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.
‘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.’
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By Mike Scialom- mike.scialom@iliffemedia.co.uk Published: 14:47, 05 December 2018 | Updated: 14:50, 05 December 2018
Rapt attention from members of the public and researchers at RAREfest Picture: Suzanne Morris/CamRARE
The first-ever rare diseases festival took place at the Guildhall this month.
RAREfest proved a huge success – check our print edition for details, with more online content to follow – but was overshadowed by a shocking story of gene-editing abuse which took place in China very recently.
Professor He Jiankui He of the Southern University of Science and Technology in Shenzen initiated a trial using Crispr-Cas9 gene technology to gene-edit healthy embryos which had an HIV-positive father. This was the first recorded instance of gene-editing of embryos which were taken to term. Two girls, Lulu and Nana, were subsequently born with a mutation making them resistant to the virus. It is possible a further embryo or embryos will also be birthed.
Professor He was given a platform to talk about his work at last week’s International Human Genome Editing Summit at the University of Hong Kong. Also at the event was Dr Anna Middleton, Head of Society and Ethics Research at Cambridge’s Wellcome Genome Campus.
The first thing Anna did when she returned from Hong Kong on Friday was attend RAREfest on Saturday, where her planned presentation was adapted to highlight the issues the controversy has raised.
“The Chinese scientist edited the genes to protect against HIV,” Dr Middleton told the Cambridge Independent shortly before her talk. “It’s a completely illegal procedure because he edited and implanted the perfectly normal embryos with the intention of creating the first edited child. The husband had HIV and the mother didn’t, and it was pitched in the consent form as a vaccine against HIV to the parents.
“But they don’t need a vaccine as HIV is in the semen not the sperm, so you can wash the sperm and add it to the egg.” This legitimate HIV treatment would have been enough to ensure any subsequent embryos would not have been born with HIV, says Dr Middleton.
The No Isolation stand at RAREfest, which took place over two days at the Guildhall
She added: “As we don’t know if there are any downstream effects of the editing technology on genes that weren’t intended to be targeted, there is a risk that Mr He has predisposed the twins to other genetic disease. He has offered to pay the medical bills for the girls until they are 18. Implanting an edited embryo is illegal in the UK and he’s been publicly shamed by the scientific and ethics community, but it’s big business – this project appears to have had significant funding even though it appears to be completely unregulated.”
“I feel incredibly shocked,” she Dr Middleton. “What’s our collective moral compass?”
The issue of data sets and how they’re used is vexatious. The commercialisation of genetic services is taking place without prior clarity about who owns the sequenced genome data. Companies who provide genetic testing in the UK, such as 23andme, are actually muddying the water. Though they charge for the service, Dr Middleton points out that “their business model is selling the data on and that’s where I think they are not being explicit.”
UK regulation allows for the creation of embryos (human or human admixed embryo) for research, including for the development of embryonic stem cells, is regulated by the Human Fertilisation and Embryology Authority (HFEA). The collection of adult, placental and other stem cells (including foetal and umbilical stem cells) is regulated by the Human Tissue Authority (HTA).
Under current laws, scientists can grow embryos in the laboratory up to 14 days after which they must be destroyed.
Jonathan Milner at RAREfest Picture: Claire Borley
Dr Middleton says “we need transparent, publicly funded research into embryo development, which includes exploration of gene editing procedures, but at the present time these edited embryos, as per the law, should be destroyed at 14 days and should not be implanted. Scientists need to research how to deliver editing procedures consistently and on target and the medical community needs to understand how and why some embryos implant and others don’t, offering answers to the millions of couples who miscarry pregnancies each year. I support a discussion about a change in the law at some future time point if patients believe that they could benefit from embryo editing techniques, but only when there are no other options and only for serious, potentially life-threatening conditions and never for what would be considered trivial ‘enhancement’ reasons.”
Also at RAREfest was Jonathan Milner, founder and deputy chairman of life sciences firm Abcam.
“There’s all sorts of questions we need to answer,” Dr Milner told the Cambridge Independent. “We shouldn’t do it (genomic engineering) now as we don’t know enough about it. There should be a ban while we work out the ethical implications.”
Genetic services are now available as standard procedure on the NHS.
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!
Imagine finding out that you have a disease that affects only one person in the country. You.
Now imagine that it took you years to get this diagnosis, because almost no-one had heard of your disease. Think about how many doctors you’d have seen, and how you’d have to tell the same story, again and again – only to be told that what you have doesn’t exist, or to be given diagnoses and medications that make no sense or have no effect.
How much time and money would you spend travelling to see overseas specialists, while feeling progressively worse with each passing year? How would you work? How would you feel, when you finally got a diagnosis, to learn that there was no cure?
Unfortunately, this terrifying scenario is only too real. Last week, the team from 11 London went to RARE Summit 2019, organised by the Cambridge Rare Disease Network, and met Carina Thurgood, whose daughter was diagnosed with Hereditary Spastic Paraplegia 15 (SPG15). There’s no one else in the UK with this condition, it’s still untreatable, and to quote Carina, the quest for a diagnosis is ‘not a journey, but an odyssey’.
Rare diseases in Europe
There are around 7,000 recognised ‘rare’ diseases; in Europe, ‘rare’ is defined as affecting fewer than 1 in 2,000 people. However, given that 1 in 17 people in the UK have a rare disease, the community as a whole is substantial. Or, to put it another way, it’s quite common to have a rare disease.
But far too little is known about them. Over 80% of rare diseases are genetic, so they are only recognised today thanks to the mapping of the human genome in the last two decades. And only 5% of them have a therapy that can deal with the disease in some way. At this current rate of progress – with just 10-15 drugs for rare diseases approved each year – it could take around 500 years before we can help everyone. Faced with depressing statistics like this, it’s hard to see a way forward.
Yet, undaunted, a raft of amazingly committed groups and individuals are campaigning hard to improve the outlook. We left the RARE Summit uplifted by the prospect that, collectively, it is possible to make a difference sooner than the numbers suggest.
The importance of quick diagnosis
For instance, diagnosis plays a key role. So an improved NHS flagging system could help people get a correct diagnosis faster, rather than suffer the agony and ignominy of being passed from pillar to post. And that diagnosis – with the help of systems like the Q-POC™, developed by 11-London clients QuantuMDx – could happen at a genetic level. But it will take a procedural and mindset shift among HCPs and CCGs to achieve this.
Then there are ways in which we can help patient groups fundraise, deal with business admin, and raise awareness faster. Most patient organisations face similar challenges, but don’t know how others have resolved them. So a case study sharing programme like Bob Health, aimed at helping the rare disease community access best practice examples uploaded by their peers, could save a lot of guesswork and frustration.
There’s no doubt that having a rare disease can be lonely, but connecting with other people in the same or a similar situation can make life more bearable – and can only help the quest for a cure. Even if people don’t have the same precise genetic condition, sometimes there can be similar clinical manifestations of it. For instance, Gaucher’s disease is rare, but it can show up as Parkinson’s disease. When this happens, Gaucher patients could share some of their experiences with Parkinson’s patients – of whom there are many more. Moreover, researchers have started to investigate the scientific reasons for the interconnection, which may provide answers to treatment for both conditions.
None of these measures are a substitute for the investment of time and money needed from drug companies, biotech, academia and medical professionals. But, together, they could help the fragmented rare disease community move more effectively towards what are often common goals. And it’s clear that communications have a critical role to play in making the best of the assets we already have: by sharing best practice, testing better practice, raising awareness and connecting people.
By Mike Scialom- mike.scialom@iliffemedia.co.uk Published: 15:10, 28 September 2019 | Updated: 12:29, 30 September 2019
At the Wellcome Genome Campus conference centre for RAREfest, from left, are Jane Swanson, Alistair Kent, Joanna Segieth, Jo Balfour and David Rose. Picture: Keith Heppell
There was a lot of goodwill – even love – at the Wellcome Genome Campus conference centre for RAREsummit this week.
The breakthrough event for Cambridge families with rare disease offspring occurred late last year, when Cambridge Rare Disease Network (CamRARE) – the organisers of this gathering of academics, scientists, investors, entrepreneurs, medics and relevant family network leaders – hosted RAREfest at the Guildhall.
The palpable emotion felt by many families when they realise their children will receive relevant treatment for their rare diseases – there are 1.5million rare disease sufferers in the UK, and 95 per cent of them have no treatment – reflects their relief that they will not be alone in their struggle, and that treatment is on the way. Not for nothing did Jonathan Milner, Abcam’s founder and a CamRARE trustee, say in his introductory keynote that the charity “is very close to my heart”.
“Warm thanks go to the sponsors and to Jo Balfour, CamRARE’s superstar, who has worked tirelessly and walked through walls to get this event going,” Jonathan told the Wellcome audience. “One thing unites everyone here is that we all want to make a difference to patients’ lives, and this is what motivates and inspires us.
“We now live in a golden age of biology – the rate of discovery means there’s never been a time like it, and new discoveries get through to patients at a faster rate than ever.”
Alastair Kent OBE, a former director of Genetic Alliance UK and the speaker after Jonathan, explained how healthcare arrived in the genomics era.
Alastair timelined the story of medicine from 500,000 years ago to the first inklings of healing in ancient Greece, through the “four humours” of the Middle Ages, and the subsequent discovery of anatomy, germs, antibiotics, DNA and monoclonal antibodies. The healthcare model has altered drastically: in 1995, Alastair said, it cost $2.25billion to sequence the genomes of two microbes. “Today the cost of sequencing your genome is $1,000 and the cost is still falling.”And indeed, we now live in an era when your can get your DNA sequenced on the NHS.
Jonathan Milner during his keynote address at the Wellcome Genome Campus’ conference centre. Picture:Martyn Postle
The upshot of this vast amount of knowledge is that “there are a growing number of therapies which have the potential to be curative rather than treatments” – an astonishing development. And the suggestion that rare diseases can be reversed is, of course, very good news for families. Speaker Carina Thurgood, who outlined her work for The Maddi Foundation which she runs, has a teenage daughter with Spastic Paraplegia Gene 15, or SPG15. “My mission is to find a cure for my daughter’s ultra-rare disease,” she told the audience – and it hasn’t been easy. With doctors in the US and Canada unable to help, Carina found support at Sheffield University, at which point the fundraising began.
“It’s a nice conference and I’ve already met someone who’s studying SPG15,” said a happy Carina.
Another of the speakers was Dr Gemma Chandratillake, education and training lead for the East of England Genomic Medicine Centre and a CamRARE trustee.
“RAREsummit19 was great, wasn’t it?” said Gemma of the occasion. “My talk was about a piece of research that we’ve done looking at making genetic test reports easier to understand by non-specialist healthcare professionals and patients.
Baroness Nicola Blackwood at RAREsummit. Picture: Martyn Postle
“It’s important that both clinicians and patients understand what to do next once they receive a genetic test result, both for the patient and for their family. We know that current reports are difficult to understand, so we worked with non-specialist clinicians, patients, and members of the public to design a new template report and then tested it against reports that are currently in use.
“The new reports scored much higher for clarity, subjective comprehension, actionability, and communication efficacy. This work was done as a collaboration between the NHS Genomic Medicine Centre, and the Winton Centre for Risk & Evidence Communication at the University.We recruited participants at a previous CamRARE event. In our talk, we interviewed one of the study participants who is a nurse in a polyposis registry who really believes that the project could help with the communication of genetic test results to patients and families.”
The work has just been published in Nature.
From left are Jane Swanson, Alistair Kent OBE, Joanna Segieth, organiser Jo Balfour and David Rose. Picture: Keith Heppell
“It’s all about putting the right people in front of each other at the right time as equals and we clearly heard at RAREsummit that the time is right for patients to become valued partners in the future of rare disease,” said Jo Balfour, a founding member of CamRARE and its operations manager. “In true CamRARE style, we created a welcoming forum that saw 250 delegates represent more than 60 rare disease patient groups, healthcare settings from across the UK, tech and pharma companies from start-ups through to big players such as Astra Zeneca, GSK, Illumina and Microsoft,scientists, researchers and government officials.
“The buzz during the networking exhibition was so exciting – patient groups being approached by scientists and companies who brought music to their ears, saying, ‘I think we know a way we can help’ – and so the collaborations begin.
“Baroness Nicola Blackwood launched our first hackathon activity with an invitation to join a national debate about the future of rare disease.
“A huge thanks also to Alastair Kent for expertly compering the day, to all of our speakers for their wisdom and passion, to the many exhibitors who shared their work with us, the hackathon facilitators who helped generate 5 great pitches and to our generous sponsors who enabled our charity to deliver such a great event.
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