Rare disease community appeals to EU and member states to move into a new era of collective decision-making in health
14 May 2020, Paris - Today is the opening day of the 10th European Conference on Rare Diseases & Orphan Products. Conference organiser EURORDIS-Rare Diseases Europe and co-organiser Orphanet are appealing to the EU and member states to step up efforts to put in place common actions across EU policies that will advance the health and wellbeing of people in Europe.
As is the case for COVID-19, there is a clear twofold added value to grouping efforts at the EU level in order to tackle rare diseases. First, to improve the health outcomes of the 30 million people living with a rare disease in Europe. Secondly, to minimise the impact on, and maximise potential return for, the economy/ies of the EU and member states.
People living with a rare disease already know so well the lessons that communities around the world are now being forced to learn as a result of the COVID-19 pandemic. Coronavirus aggravates their health, social, economic vulnerabilities in both the short and long term.
We must quash this egocentric rhetoric emerging in some countries. It fragments Europe into diverging national-level decisions. We must combine our capacities and power at the European level, to ensure health, equity and solidarity for every individual citizen.
Yann Le Cam, Chief Executive Officer, EURORDIS, commented, “We must quash this egocentric rhetoric emerging in some countries. It fragments Europe into diverging national-level decisions. We must combine our capacities and power at the European level, to ensure health, equity and solidarity for every individual citizen. We appeal to national governments and the EU institutions wherever possible to increase efforts in the coming year and decade to collaborate across the board on relevant EU policies that will strengthen healthcare systems.”
He added, “There are many actions that the EU can take: Invest in research and innovation. Adopt legislations enhancing competitiveness and addressing unmet medical needs. Expand and consolidate the European Reference Networks. Create a structured EU approach to ensure sustainable access to orphan medicines and new transformative gene/ cell therapies for patients. To name but a few. A lack of EU coordination is both detrimental to the health of people living with a rare disease and has an unnecessary negative impact on the economy.”
Ana Rath, Director, Orphanet, commented, “Now more than ever, the EU has a vital role to play in improving the health of its citizens. ECRD 2020 focuses on how to build policies and services over the next decade that will improve the journey of living with a rare disease for patients and families. The conference builds on the work of the ongoing Rare2030 Foresight study, which will conclude next year with a comprehensive set of key recommendations to policy makers on how to improve rare disease policy.”
About the European Conference on Rare Diseases & Orphan Products 2020
The ECRD is recognised globally as the largest, patient-led rare disease event. Leading, inspiring and engaging all stakeholders to take action, the Conference is an unrivalled opportunity to network and exchange invaluable knowledge with all stakeholders in the rare disease community - patient representatives, policy makers, researchers, clinicians, industry representatives, payers and regulators.
ECRD 2020 takes place exclusively online 14-15 May. Discussions at the conference will go towards informing and building the future ecosystem of rare disease policies and services. For more information visit: www.rare-diseases.eu/.
About EURORDIS-Rare Diseases Europe
EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of over 900 rare disease patient organisations from 72 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe.
By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services.
Orphanet is a unique resource, provide high-quality information and data on rare diseases, contributing to improving the diagnosis, care and treatment of patients with rare diseases.
Orphanet maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems.
Thanks to its network of 40 countries, Orphanet aims at orienting patients and doctors to the relevant expert resources, in Europe and beyond.
All photo credits Beth Moseley Photography
Writer, Rebecca Atkinson and Illustrator, Kate Read have created the ‘My Little Lockdown Life in a Box Project’ to keep children and families colouring, cutting and snipping during lockdown to build a tiny version of their lockdown homes, complete with PE with Joe Wicks on the titchy telly, (huff, puff) tiny home-school work (yawn, yawn) and teeny weeny messages of thanks to NHS workers (our true heroes).
The ‘My Little Lockdown Life in a Box’ is a family project which Atkinson and Read hope families will get together around the table and use to talk about what has happened and how it’s affected them, as they build a tiny lockdown world just like their own.
Kate Read, author and illustrator said, "The project has been specially designed to enable families to play and create stories around life in lockdown to help children process and understand why life has gone a bit… topsy turvy!" The duo will be sending 100 shoebox kits to families affected by disability in their home town of Norwich, thanks to a donation of empty boxes from local children’s shoe brand Start-Rite and funding from The Fore.
"We are filling these boxes with felt tips, scissors, glue and a printed copy of the project so children can start building and playing right away with a kit that is relevant to their lives right now,” explains Atkinson. “When the crisis has come to pass we hope to bring these boxes together to build a tower block of shoebox homes for a public exhibition at The Forum in Norwich. For those who are not local to us, we have made the project available to download for a small fee to support our organisation. We hope the project will provide hours of fun for many families."
To find out more and to purchase your very own 'My Little Lockdown Life in a box project' click on the website button below.
ToyLikeMe is an arts and play based not-for-profit organisation based in Norwich and York. Who start playful conversations with children about disability and health to boost self-esteem and grow open minds.
Share of voice for individual rare diseases is by its very nature, rare. Success has been found in the space by taking a strength in numbers approach, working together across different diseases and therapy areas to attract attention and funding. But when does a rare disease have sufficient researchers and clinicians invested in it to be ready to step out on its own and start to establish itself with dedicated conferences and events?
I was lucky enough to attend the inaugural EB World Congress, taking place at Park Plaza London Riverbank, between 20th – 23th January 2020, and see first-hand how taking on the substantial risk in creating the first ever Epidermolysis Bullosa (EB) specific congress, became an undisputed success.
The event was organised by the UK branch of DEBRA, a network of national patient advocacy groups. EB is a group of rare and genetic disorders of the skin characterised by skin fragility which can be severe and cause recurrent blistering of the skin in response to minor trauma or friction. It is estimated that there are more than 500,000 people living with EB worldwide.
While there are organisations aiming to develop treatments for EB, it is important to note that at present there are no approved treatments for this painful and debilitating condition. However, despite there being no significant breakthroughs in an incredibly rare group of genetic disorders the worldwide EB community come out in force to support the event.
We ensured this by providing certain materials earlier than required to give the organisers a benchmark of what the collateral looks like and the review time required to finalise it, or by simply keeping them informed on any and all traditional and social media activities that were being prepared on our side.
An additional challenge for any material development and communications around the EB World Congress was that the fourth and final day was a ‘community day.’ This is where the scientific exchange of the previous days had ended, and patient and carers were invited onsite for patient centric presentations, meetings and activities. This day was an important opportunity to help create a sense of transparency with patients where an open dialog is paramount to reassure those living with EB that there are investments and scientific movements that could one day impact their standard of care.
Vigilance was key in removing or replacing any material and information that would not be appropriate for the community day. This included working alongside the event organises to ensure any social media content was properly viewed both internally and externally before being signed off for use. This approach continued through to the event itself where everyone involved felt like colleagues all pulling in the same direction putting the potential improvement to the lives of those with EB first.
EB World Congress on the ground
Having spent the last seven years working across a variety of European and global healthcare conferences this was my first time supporting and attending a rare disease congress. Though patient centricity is always a huge part of these types of events, this congress honestly had the most palpable atmosphere I have experienced in terms of the enthusiasm and passion of addressing EB patients’ unmet need.
Speaking onsite to various Dermatologists, Medical Directors and Clinical Research Directors from across the globe, it was clear that the scientific developments being shared had a galvanising effect on everyone in attendance. EB experts from Ireland to Argentina seemed excited by being surround by likeminded people who are each fighting the devastating unmet need of EB patients. In retrospect, it should have been of no surprise that leaders in EB across the world jumped at the opportunity to attend.
A blueprint for EB & rare disease
Interest in rare disease has never been higher, the fact that you’re reading this on a platform dedicated to rare disease is evidence of that, but events like the EB World Congress demonstrate that interest in the space has turned into definitive investment. From experiencing the event first-hand and talking to those working incredibly hard to move the science forward, who are clearly excited by the opportunity to share and learn alike I hope the organisers can build on this momentum and turn this into an annual meeting.
Beyond that, to those working in other rare disease who may feel that an event such as this would be too high risk, that there wouldn’t be enough interest, that the developments in their respective area haven’t resulted in any advances for patients yet—I hope you see this as evidence that the risk is worth it. There will be more people than you know working hard and pulling in the same direction as you, and maybe a meeting such as this could help push the science through to the breakthrough that could really make a difference.
More from OPEN Health in RARE Revolution Magazine
 Debra International, Causes and Subtypes. Available at: http://www.debra-international.org/what-is-eb/causes-and-subtypes.html Last accessed: February 2020
 DEBRA UK (2018). What is EB? Available at: https://www.debra.org.uk/what-is-eb/what-is-eb. Last access: February 2020
 Denyer J, Pillay E, Clapham J. Best practice guidelines for skin and wound care in epidermolysis bullosa. An International Consensus. Wounds International, 2017.
 Genetics Home Reference (2018). Dystrophic epidermolysis bullosa. Available at: https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#inheritance. Last access: February 2020.
 Intong et al. Inherited epidermolysis bullosa: New diagnostic criteria and classification. Clinics in Dermatology 2012;30:70–77.
 Marinkovich MP (2018). Epidermolysis Bullosa. Available at: https://emedicine.medscape.com/article/1062939-overview#a2. Last access: February 2020
OPEN Health is highly invested in the delivery of positive outcomes in rare disease.
We have extensive experience across our practices having worked with many clients within the area of orphan and ultra-orphan medicine.
Our broad capabilities help us to recognise that every scenario is unique and we therefore apply bespoke, cohesive communications solutions to ensure optimal outcomes are achieved for our clients and the patients they serve.
In recognition of World Haemophilia Day 2020, Laurence Woollard and Dr Rich Gorman discuss the ever-increasing patient-provider knowledge gap in haemophilia, the opportunities for a renewed focus on patient empowerment through education and how the wider rare disease community may rewrite the narrative of shared decision-making in an era of transformative care.
The year 1989 saw the likes of ground-breaking album releases by both Madonna and Phil Collins, the debut of Nintendo’s iconic hand-held Game Boy as well as Michael Keaton starring as the caped crusader in the first major studio Batman release! Most significantly, it was the inaugural World Haemophilia Day. How apt considering the two authors were also born then… what a momentous year all round!
Each of these cultural phenomena (except us, obviously!) have evolved over the ages in response to technological advancements and consumer demands. The same could also be said for innovation in haemophilia, which has taken tremendous leaps forward; the devastating tragedies of people receiving virally contaminated blood products during the ‘70s and ‘80s was a catalyst that fuelled research on the development of safer treatments (brought to market in our lifetime). By the close of the “Tenties”, the community has witnessed a new era of products with extended half-lives, together with the introduction of therapeutic agents based on mechanisms that go beyond the conventional replacement of the deficient clotting factor. This progress looks set to continue throughout the 2020s, signalled by the likely ‘blockbuster’ launch of the very first gene therapy for haemophilia, often hailed as the ‘holy-grail’ of treatment for our condition.
Whilst these newer treatment strategies are surely something to be celebrated – potentially offering us and our peers greater protection from bleeding combined with a reduction in treatment burden – paradoxically, the speed of innovation has opened up new dilemmas and uncertainties for people living with haemophilia and their healthcare team, in the task of aligning product and patient characteristics across a diverse population. Haemophilia has similarities to other rapidly changing, commercially influenced rare disease environments such as multiple sclerosis, where the increasingly varied and complex treatment portfolio can make it difficult to reach a conclusion regarding relative efficacy or risk profile comparisons.
Taking centre stage amidst this uncertainty is the dynamic balance of decision-making power between us and our clinicians. In haemophilia care, this has been shaped and influenced by the legacy of the aforementioned contaminated blood crisis. Consequently, it prompted patients and their specialists to reconsider the roles they played in the clinical relationship and begin to embrace more participative decision-making processes. Today, in such preference-sensitive medical conditions, this culture of shared decision-making will have even greater relevance once patients have closed the knowledge gap and are more aware of their treatment needs.
A necessary prerequisite to bridging the knowledge gap relies on empowering individuals and their caregivers to foster a greater sense of involvement in, and facilitation of, shared decision-making, primarily through a core dimension of health literacy. In an ideal scenario, patients should not be put in the position of having to pick one treatment choice over another without the necessary evidence-based education; rather, be enabled to feel comfortable with their decisions and allowed to actively participate in their own care to optimise overall health and wellbeing.
People may have a preference for passivity because they believe - and perhaps, are encultured to believe - that the best choice relies solely on the expertise of the clinician (which option is medically reasonable?) rather than understanding the importance of their own preferences for outcomes of options (which outcomes matter most to me?).
In some cases, studies have even described early real-world adopters of the latest longer-acting treatment in haemophilia as demonstrating ‘a clear lack of knowledge’ of the fundamental components to self-managing on these products effectively, including their factor level, timing of infusions and treatment use for bleeding episodes. It brings into question how well-equipped such individuals are to care and advocate for themselves, along with the degree of input they have when being offered or instructed to switch therapy; with issues of cost-comparison and effectiveness at play within a resource-restricted healthcare setting.[12,13,14] By the same token, it should be noted that people living with haemophilia have expressed a wish to receive facts about novel treatments, including the risks and benefits, from the national patient group as well as their multidisciplinary care team. Interestingly enough, there are currently limited resources of high‐quality, independent information on gene therapies.
Within the haemophilia clinical setting, new models of patient-centred practice are being piloted, with varying degrees of success, to provide education, improve engagement and encourage open patient-clinician dialogue. For instance, in British Colombia, Canada, the patient is invited into a meeting with all members of the healthcare team (e.g. haematologist, nursing specialist and physiotherapist) to promote freedom of participation in treatment decisions, enhanced by the use of appropriate visual tools and decision aids. One of us can relate to the benefits of this style of approach at a London centre, whereby a more relaxed, regular informal setting is offered in addition to the normal biannual, structured and time-pressured appointment in outpatients. A scenario might be where the consultant observes the physiotherapist undertaking an ultrasound scan on the patient’s damaged joints, thus sparking a three-way conversation to mitigate future health concerns in agreement together.
Even so, what transpires between those four walls is not always translatable in the face of the unpredictable demands and influences of everyday life. Moreover, particularly as millennials, we have grown up to believe that our chronic condition should not define us as a mechanism to normalise social perceptions with our non-affected peers. More broadly, this approach has possibly discouraged and suppressed any inquisitiveness about health-related needs and clouded patients’ judgement of the necessity to learn more, especially in these change-filled times.
Undoubtedly, the mass digitalisation of society and the expanding nature of data-driven healthcare and e-Health tools have contributed to increasing rare disease patient community connections and involvement in advancing scientific and social research. Yet, in haemophilia, we would argue that this has also altered and diminished forms of learning through the absence of: offline peer support, self-expression and self-validation from meeting others like ourselves in person and building a spirited solidarity – standing side-by-side, not just metaphorically but on the ground – unified by a collective purpose to drive up standards of care together.
A cohesive and empowered patient network that is engaged and on trend with the emerging science and evolving treatment landscape is an admirable goal. It will necessitate both cultural transformation and structural change within the clinic itself, but also wider, at a grassroots-led and community-based level. This must occur without prejudice of socio-economic status and be underpinned by access to inclusive and equitable first-rate education. Importantly, the education we would value the most here is one that treats the learner as a co-creator of knowledge, with education as a practice of freedom. For the patient, being asked, “Do you have any questions?” in respect of their care is meaningless (and potentially anxiety inducing) if they have not been exposed to appropriate opportunities to cultivate self-confidence and help develop the skills required to formulate and make an informed response. Without investment in health literacy and effective delivery thereof, efforts to enable patients to participate in shared decision-making risk becoming a tokenistic gesture, reifying age-old power differentials with patients positioned as passive recipients of their care.
The current pandemic of COVID-19 is diverting attention and necessary resources in healthcare delivery and patient support services to respond to this unprecedented crisis – and rightly so. The heightened public awareness of the necessity to keep well, both physically and mentally, may drive an increase in rare disease patient-provider interaction, especially with a possible spike in emotion-laden contact from worried individuals and their caregivers regarding treatment supplies, drug interactions and deferred clinic visits, amongst others. The impact of COVID-19 on healthcare systems will be felt for a long time to come. How this might affect patient engagement and encourage improvements in health literacy remains to be seen. Though, with cautious optimism, we might ask whether the crisis may forge new relationships between patients and treatment providers, building momentum towards more equitable forms of shared decision-making.
Besides, we want to look back at this decade and not just marvel at the transformational drug discoveries and therapies but similarly, be witness to a culture shift whereby a mobilised, educated patient community are interacting synergistically with their healthcare teams for the benefit of all.
Published media article headers in cover image have been taken and adapted for editorial use from the following online sources (accessed 11th April 2020, clockwise from top left):
1. Franchini M, et al. Investigational drugs to treat hemophilia. Expert Opin on Investig Drugs 2020;29(3):295-301. DOI: 10.1080/13543784.2020.1722999
2. Pilunni D, et al. When innovation goes fast. The case of hemophilia. Curr Opin Pharmacol 2019;45:95-101. DOI: 10.1016/j.coph.2019.06.005
3. Taylor P. ‘Blockbusters in waiting: drug launches to watch in 2020’. Pharmaphorum 17 February 2020. Available at: https://pharmaphorum.com/news/blockbusters-in-waiting-drug-launches-to-watch-in-2020/ [Accessed 23 March 2020]
4. Makris M. Gene therapy 1.0 in haemophilia: effective and safe, but with many uncertainties. Lancet Haematol 2020;7(3):e186-88. DOI: 10.1016/S2352-3026(20)30035-1
5. Pellend-Marcotte MC, et al. Hemophilia in a changing treatment landscape. Hematol 2019;33(3):409-23. DOI: 10.1016/j.hoc.2019.01.007
6. DiMechele DM. Navigating speed bumps on the innovation highway in hemophilia therapeutics. Hemasphere 2018;2(5):e144. DOI: 10.1097/HS9.0000000000000144
7. Colligan E, et al. Shared decision-making in multiple sclerosis. Mult Scler 2017;23(2):185-90. DOI: 10.1177/1352458516671204
8. De la Corte-Rodriguez H, et al. Health education and empowerment in adult patients with haemophilia. Expert Rev Hematol 2019;12 (11):989-95. DOI: 10.1080/17474086.2019.1650640
9. Lamb CC, et al. UK vs US physician decision-making in the treatment of haemophilia. Haemophilia 2019;25(4):616-25. DOI: 10.1111/hae.13766
10. Russo G, et al. Empowering patients to co-create a sustainable healthcare value. Sustainability 2019;11:1315. DOI: 10.3390/su11051315
11. Stacey D, et al. Decision aids for people facing health treatment or screening decisions. Cochrane Database Syst Rev 2017. DOI: 10.1002/14651858.cd001431.pub5
12. Khair K, et al. How patients view extended half-life products: Impressions from real-world experience (The HOPE study). Haemophilia 2019;25(5):814-20. DOI: 10.1111/hae.13803
13. van Balen EC, et al. Patient Perspectives on Novel Treatments in Haemophilia: A Qualitative Study. Patient 2019;13:201-10. DOI: 10.1007/s40271-019-00395-6
14. Miesbach W, et al. How to discuss gene therapy for haemophilia? A patient and physician perspective. Haemophilia 2019;25(4):545-57. DOI: 10.1111/hae.13769
15. van Balen EC, et al. Patient-centred care in haemophilia: Patient perspectives on visualization and participation in decision-making. Haemophilia 2019;25(6):938-45. DOI: 10.1111/hae.13830
16. Aymé S, et al. Empowering of patients: lessons from the rare disease community. Lancet 2008;371(9629):2048-51. DOI: 10.1016/S0140-6736(08)60875-2
17. Freire, P. Pedagogy of the Oppressed. New York: Continuum 1996.
PatientWing (www.patientwing.com), a company with the mission of connecting patients with clinical trials, today announced that it has launched covid19studies.org to increase enrolment in COVID-19 clinical trials.
As government agencies, healthcare providers and pharmaceutical companies around the world work frantically to create treatments and vaccines for COVID-19, the number of clinical studies grows exponentially. On the day the website launched, April 7, 2020, there were already 320 studies looking to recruit over 15 million volunteers. Covid19studies.org features helpful clinical trial information – what are clinical trials, why should you participate, etc. – as well as a robust listing of all COVID-19 trials with filters such as status, gender, and location to increase accessibility.
“Due to the large number of studies and volunteers needed, it is critical that we educate and help patients and volunteers find and enrol in appropriate studies. Additionally, it is going to be very difficult for researchers to find qualified participants, like with any other condition. We are launching this website to facilitate this matching process – a resource for patients to find and enrol in the right studies. We are also providing our patient onboarding and enrolment tools to research sites at no cost,” said Zikria Syed, co-founder and CEO at PatientWing.
Given the enormous impact of the COVID-19 pandemic, people are looking for ways to help, but don’t know how, or where to look.
“Given the enormous impact of the COVID-19 pandemic, people are looking for ways to help, but don’t know how, or where to look. We designed a patient-friendly website, with content, resources and a user-friendly listing of all COVID-19 studies,” said Stephen Worley, Director of Marketing at PatientWing. “At PatientWing, we are always thinking of creative ways to raise clinical trial awareness – now more than ever. Let’s raise awareness and fight COVID-19 together by making clinical trials accessible to the people that need it most – everyone.”
PatientWing is the first end-to-end, HIPAA-compliant, patient engagement platform that enables clinical trial sponsors to communicate with patients before, during and after their studies. For patients, PatientWing offers an easy-to-use navigation tool to search for clinical trials by condition, geography, age and more. For sponsors and researchers, PatientWing actively promotes trials, enrolls patients, and provides a custom-branded platform with tools enabling sponsors to build relationships and trust with patients to bring life-saving treatments to market.
For more information, email email@example.com or visit www.patientwing.com
I used to quite like my feet and was partial to a bit of shoe shopping. These days I hate my little ‘trotters’; so often swollen and misshapen... This goes way beyond middle-aged body image. I’m practically at war with my own foot soldiers - engaging in daily battle. I’ve given away my shoe collection in a bid to disarm them; party heels at the centre of an arsenal used against me.
I now realise this massively painful cramp condition is called dystonia and can effect various parts of the body. A neurological rare condition in its own right, it’s one of some 40 or so symptoms for those of us with Young Onset Parkinson’s. Known (by those in the know) as YOPD - classified as a rare syndrome in Europe; yet waiting for North America to catch up, seemingly. We estimate that there are 7000 people* in the UK diagnosed under the age of 50 with YOPD, many with some genetic predisposition.
Once recognised, foot dystonia is a useful diagnostic tool - often a presenting symptom for YOPD. This classic clawing of toes is a giveaway; rarely seen in traditional age Parkinson’s except as a side effect of the meds. This unattractive symptom is accompanied by pain which some may describe as burning, others stinging - either way it makes a walk in the park anything but.
Of the three, depression is probably - for most - the only instantly understood symptom. By that I mean - at lest the word itself is familiar. In too many cases it is, however, dismissed early on as being caused by news of the diagnosis itself.
By the time any YOPD symptom appear the brain’s dopamine has been depleted by 60 - 80 per cent - with serotonin also impacted. Being deficient of the brain’s two happy drugs - how surprising is it really that we show sign of depression?
Again, this can be an early, pre-diagnosis symptom - as it was in my case. I was put on anti-depressives which three months later still had no effect, prompting another visit to the GP.
Dyskinesia is the third D and the tricky one - the one which I’m yet to experience first-hand and the one that concerns me the most. It is the side effect that has become a symptom and at its worst frightens, alienates and exhausts. I have seen this full-on dyko-inferno in many friends.
People with Parkinson’s rely on their medications to move - without them they are slow and rigid. We refer to the inactivity before the meds have kicked in as being ‘off’. When they start working it’s as if someone has flicked a switch and we’re ‘on’. When we have too much medication we often get dyskinesia - which I refer to as ‘over’.
Some clinicians consider this part of being ‘on’ and the meds working. Perhaps they haven’t seen dyskenesia in ‘full flight’ with its out-of-control irratic, jerking and flailing movements. I would call this state beyond ‘on’ ad into ‘over’. It is far more common in YOPD; moot point as to whether this is a result of impatient patient pill-popping in order to get ‘on’.
Many of the other symptoms we share with more typical older PD ‘patients’ but three Ds provide the point of difference in YOPD - and Young Onset Parkinson’s Dystonia, Depression and Dyskinesia certainly provide more accuracy that the word ‘Disease’.
* 7000 is a guesstimate based on figures in other western states where YOPD is approx 5% of all diagnosed under 50 years old with Parkinson’s. In the UK PD population of 145,000 that equates to 7250. No official verified figures are available.
“Each of us is being asked every day to manifest strength beyond what we are accustomed to. Use this as an opportunity to stretch your potential, if not for yourself then for the people who are depending on you,” encourages yoga instructor Cristy Balcells to a group of international families who are simultaneously taking a deep breath while holding a warrior pose. The participants are parents, caregivers and individuals affected by the rare mitochondrial disorder Barth syndrome, and the class is “Online Corona Yoga: Stay Calm and Strong”.
When Barth Syndrome Foundation (BSF) started to see the domino effect of school closings and warnings related to the coronavirus in early March, they knew that their families would need additional support. “Our community was already isolated, already at risk for life-threatening complications related to illness; they are part of the vulnerable group that everyone is talking about. During this pandemic, we know our role is to not only provide information, but also to provide support,” says Shelley Bowen, BSF’s Director of Family Services.
During this pandemic, we know our role is to not only provide information, but also to provide support
I am so thankful for this class. I never thought I would be doing yoga. It frees my mind from worry and stress, and I feel for a little while immersed in love, light and wellness.
“I am so thankful for this class. I never thought I would be doing yoga. It frees my mind from worry and stress, and I feel for a little while immersed in love, light and wellness. It’s one time of the day I don’t feel guilty or like I’m not doing enough, and I love seeing the other families as well, reminding me I’m not alone,” shares Allanna Anderson, a mom from Scotland whose son has Barth syndrome. After class a dozen faces fill the screen, sharing experiences from the US, UK, Netherlands, Belgium, Scotland and Canada. One mom breaks down into tears. “This is so hard on our kids. It’s just not fair. It was already hard for them, and now they are afraid they will get this virus and die. We are scared, and we haven’t been able to go out for weeks.”
Research from Harvard Medical School suggests that yoga is one positive way to cope with the anxiety and uncertainty many people are feeling as a result of the COVID-19 pandemic. “Yoga is a very grounding experience. In this case mindfulness means being focused on the way you feel in your body in the moment. Learning to breathe through a difficult posture and not give up is a very valuable lesson we can apply off the mat in our lives right now.” The community experience is also important she emphasizes. “This is not about being flexible or being really good at certain poses. It’s about connection, to yourself and to others.”
Netherlands resident Peter van Loo lives with Barth syndrome and consequently fatigues quickly and experiences debilitating muscle weakness, common features of the disease. Nonetheless, he also participates in the yoga class. “I feel I may find an in-person class once this is over. I’m really surprised at how intense and strong yoga is. But I really enjoyed it and will keep doing more.” Like most people, Peter is staying home in order to avoid any exposure to the coronavirus. “This just shows what BSF is all about. Not only are they doing the research to advance therapies for Barth syndrome, but they are making sure we are never alone.” In addition to “Corona Yoga”, BSF is also offering a daily age-focused support group, a weekly community roundtable, as well as virtual happy hours for adults and show and tell sessions for kids.
This just shows what BSF is all about. Not only are they doing the research to advance therapies for Barth syndrome, but they are making sure we are never alone.
To learn more about Barth syndrome and BSF, visit barthsyndrome.org
The Barth Syndrome Foundation welcome anyone to thier sessions regardless of geographic location or condition.
To find links to the support and yoga sessions visit https://www.barthsyndrome.org/barthsyndrome/familyresources/support-groups.html
Healx, the AI-powered, patient-inspired biotech specialising in rare diseases, today announces it is using its AI platform to develop drug combinations from approved drugs to contribute towards global efforts to find treatments for COVID-19. This focus on combination therapies, where two or more drugs simultaneously target different aspects of the disease pathology, has the potential to ensure a more effective treatment.
Combination therapies are particularly difficult to discover. To uncover potential combination treatments for COVID-19 requires detailed analysis of the eight million possible pairs and 10.5 billion drug triples stemming from the 4,000 approved drugs already on the market. Healx’s AI platform, Healnet, overcomes this challenge by integrating and analysing biomedical data from multiple sources to predict those combination therapies most likely to succeed in the clinic. Healnet is widely regarded as the world’s most efficient and comprehensive AI platform for rare diseases.
The development of combination therapies is one of Healx’s core strengths and is the leading approach for finding effective treatments for people severely affected by COVID-19 and associated co-morbidities. Combination therapy candidates will be available in May for preclinical testing.
Healx is primarily dedicated to accelerating the discovery and development of therapies for the 95% of 7,000 rare diseases currently without treatment options. Many patients in this demographic - such as those living with Alström syndrome or cystic fibrosis - suffer from pre-existing conditions relating to the heart and respiratory system which have been associated with the highest mortality rates amongst COVID-19 patients. Given this increased vulnerability to COVID-19, and the acute need for treatments, Healx are dedicating their time, knowledge, experience and technology to fighting the viral infection. The treatments Healx intends to develop are also likely to have wide use amongst other patients identified as vulnerable.
The Company’s efforts to find therapeutic combinations for COVID-19 are led by Dr David Brown, Healx’s Co-founder and Chairman of the Board. Dr Brown has over 30 years of experience in leadership roles in the pharmaceutical industry and he is the co-inventor of Viagra and a number of other medicines.
Dr David Brown, Healx Chairman and Co-founder, said:
“The recent spread of COVID-19 is risking the lives of millions of rare disease patients across the world. The company’s AI technology is perfectly positioned to support the efforts to find treatments for COVID-19. Healx's data-driven AI platform is able to predict, within weeks, which known drugs can be repurposed to treat other conditions such as COVID-19. This approach significantly shortens discovery-to-clinic timelines. Our AI is able to combine 2-3 existing drugs to formulate the most effective treatment. This approach ensures that any potential treatments we identify can be used by clinicians to help patients very quickly.”
Dr Rick Thompson, CEO of UK rare disease patient advocacy group, Findacure, said:
“Rare disease patients - especially those with respiratory or immune conditions - are feeling particularly vulnerable to serious complications of infection. Efforts like Healx’s to find viable treatments for COVID-19 will have a huge impact on the world’s rare disease communities, whose quest for support and treatments can be all too easy to overlook.”
Collaboration is key in the fight against COVID-19 which is why Healx is welcoming partners in their endeavour to discover viable treatments. To partner with Healx and drive patient access to treatments for COVID-19, please contact
Healx is an AI-powered and patient-inspired technology company, accelerating the discovery and development of rare disease treatments. Their AI drug discovery platform leverages public and proprietary biomedical data and features the world’s leading knowledge graph for rare diseases. Combining their technology with patient insights and drug discovery expertise, Healx is well-positioned to make a unique contribution to the global effort to combat COVID-19.
For more information, please visit healx.io and connect us with us on Twitter @healx and LinkedIn.
For more information please contact:
Michelle Harrison, Marketing Manager
and connect with us on Facebook, Twitter @healx and LinkedIn
At Instinctif Partners
Tim Watson / Agnes Stephens / Genevieve Wilson
T: +020 7866 7861
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National Foundation for Ectodermal Dysplasias (NFED) First Recipient of Vital Research Dataset
Ann Arbor, Michigan – 24 February 2020 – Genomenon®, home of the Mastermind® Genomic Search Engine, is celebrating Rare Disease Week 2020 by making the comprehensive genomic landscape of Ectodermal Dysplasias (ED) freely available to clinical and pharma researchers. The release of this data set will provide genetic insight for doctors and researchers searching for efficacious treatments for ED, a collection of more than 100 different disorders that affect the teeth, skin, sweat glands, hair, nails, and other ectodermal structures.
The National Foundation for Ectodermal Dysplasias (NFED), the worldwide expert on ectodermal dysplasias, is the only advocacy organisation in the United States dedicated to those living with these disorders. They offer a range of educational resources and events to meet the changing needs of those affected by the different types of ectodermal dysplasias and provide support and community for families with ED.
Genomenon founder Dr Mark Kiel was diagnosed with ectodermal dysplasia at age 13, which led to a connection with NFED and, ultimately, to his chosen career as an MD, PhD in molecular genetic pathology. Once Genomenon was able to produce data that could help NFED in their search for treatments and a cure, he reached out to offer assistance.
The Genomenon team produced a Mastermind Genomic LandscapeTM for the primary causative genes associated with ectodermal dysplasias, which included comprehensive evidence for 2,908 genetic mutations (variants), 112 unique clinical symptoms, annotated functional studies, and photos of the physical hallmarks of the ED disorders. They then presented the database to NFED.
This genomic landscape of Ectodermal Dyplasias helps us understand the molecular drivers of ectodermal dysplasias. We can use the data to find correlations between genes, variants and the disease pathways, and find new discoveries that will lead to better treatments of the disease.
Expanding the body of knowledge on a disease requires access to all of the currently published medical and genetic literature on the disease. Unfortunately, finding this information can be like looking for a needle in a haystack. With the current publication rate at about 3 million articles a year, any rare disease makes up an extremely minute portion of this mass of literature. Mastermind’s Artificial Intelligence and Machine Learning processes find all of the available evidence and present it for researchers and clinicians, ensuring the best possible outcomes.
In 2019, Genomenon produced the Genomic Landscape for rare disease Beta-Propeller Protein-Associated Neurodegeneration (BPAN), making it available to researchers as the first in their rare disease efforts of this kind.
Read the BPAN Press Release
Genomenon is a genomic health IT company whose mission is to ensure that every rare disease patient is accurately diagnosed and properly treated. With over 7,000 rare diseases impacting more people combined than cancer and a $262 billion orphan drug market targeting rare diseases, Genomenon delivers the genomic tools and data needed to diagnose and treat the genetic drivers of each rare disease.
The Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results.
Mastermind Genomic Landscapes inform pharmaceutical and bio-pharma companies on precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.
Genomenon was named 2020 Global Company of the Year in Clinical Genomics Interpretation by Frost & Sullivan.
For more information, visit Genomenon.com
Candace Chapman 1-734-219-5175 or email firstname.lastname@example.org
Rare Revolution Editor