Skip to main content

Unfortunately we don't fully support your browser. If you have the option to, please upgrade to a newer version or use Mozilla Firefox, Microsoft Edge, Google Chrome, or Safari 14 or newer. If you are unable to, and need support, please send us your feedback.

Elsevier
Publish with us

Year of the Zebra: In review

Lessons learned from amplifying the voices of the rare disease community.

Girl with rare disease standing with ice cream cone

Reflections

Last year, Elsevier Health launched its Year of the Zebra initiative. After a year of success and inspiration, we reflect on its profound impact in raising awareness and understanding of rare diseases within the medical community and beyond.  

Historically, rare diseases have received very little attention from the medical community, but in 2023, we aspired to find a meaningful way to raise greater awareness of these rare diseases and their impact, spanning from patients and families to caregivers, clinicians, and medical students.  

The Year of the Zebra initiative was inspired by a conventional maxim often used in medical training, “When you hear hoofbeats, think of horses, not zebras.” This serves as a reminder for medical students to first consider the common and likely diagnoses when evaluating the symptoms of their patients, likened to horses, rather than rare ones, or zebras.  

Despite these zebras being relatively rare when considering the overall world population, their impacts are far-reaching. Zebra or rare conditions encompass over 7,000 distinct disorders, and while each individual disorder may be uncommon, collectively they have a profound impact on the lives of more than 400 million people worldwide. 

At Elsevier Health, we strive to enable clinicians to make better and more informed decisions and prepare the next generation of future healthcare professionals, so that they can deliver the best possible outcomes for all patients.  

We shape our solutions to provide content that supports representation and inclusion of all people, driving greater awareness and bridging the diversity and equity gap for patients and healthcare professionals. 

"When I was in medical school I was taught 'when you hear hoofbeats, think of horses, not zebras' - meaning, think of the common conditions, not the rare disorders. That mentality has contributed to the lengthy diagnostic odysser that rare disease patients go through to receive the appropriate care."

Shiv Gaglani

SG

Shiv Gaglani

Co-Founfer and CEO at Osmosis | Elsevier

Social media feedback on the Year of the Zebra initiative

Interacting with the Year of the Zebra campaign on social media.

Rare disease around the world

Within our organization, the impact of these conditions hits home as we have identified at least 100 colleagues who are affected by rare diseases, whether it’s a personal diagnosis or that of a friend or family member.  

But looking outside of our walls, it is estimated that 5% of the worldwide population is living with a rare disease, and with 8 out of 10 of these conditions being genetic, the stark reality is that 1 in 2 patients diagnosed are children.  

Despite the prevalence of these conditions, the infrastructure available to support the global rare disease community is lacking. In the US, 95% of rare diseases are without an FDA-approved treatment, and as many as 50% of these conditions don’t have dedicated foundations or research support groups, putting a bigger emphasis on the need to provide people with access to vital resources.  

The lack of research and treatments not only exacerbates the challenges faced by those with rare diseases but also prolongs the journey to diagnosis, resulting in suboptimal patient outcomes. A previous study by the European Organisation for Rare Diseases further found that as many as 25% of rare disease patients have to wait between 5 and 30 years from the first sign of their symptoms to receive a diagnosis for their condition, and 40% had initially received multiple misdiagnoses, leading to ineffective and unnecessary medical management. 

This is not to say that significant strides have not been taken in recent years to improve outcomes and raise awareness of the global rare disease community. In December 2021, the United Nations General Assembly formally adopted the first-ever UN Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families”.  

The resolution recognizes the need to promote and protect the human rights of all people, including the estimated 400 million people living with a rare disease worldwide, and affirms that addressing the needs of persons living with a rare disease is essential to advancing the 2030 Agenda for Sustainable Development.

UK Rare Disease Framework

In the same year, the UK government’s Department of Health & Social Care published the UK Rare Disease Framework, outlining four priority areas, presenting a national vision to improve the lives of the approximately 3.5 million people in the UK living with a rare disease.  

  1. Helping patients get a final diagnosis faster 

  2. Increasing awareness of rare diseases among healthcare professionals 

  3. Better coordination of care 

  4. Improving access to specialist care, treatments, and drugs 

This was followed by four action plans across the UK, setting out the next steps that governments, the NHS, partners and stakeholders would take together to improve the lives of people living with a rare disease.

UK Department of Health and Social Care new Rare Disease Framework

Rare Disease facts

  • Rare Disease Day(opens in new tab/window) is the globally coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with these conditions

  • Rare Disease Day is observed every year on the 28th of February (or 29th in leap years)the rarest day of the year

  • It can take up to thirty years for a rare disease to be accurately diagnosed

  • While over 7,000 rare diseases have been identified, only 5% have licensed treatments—most of these diseases are also life-threatening which underscores the urgent need for further research into treatment options

Year of the Zebra – raising awareness among the global healthcare community

We recognized that more needed to be done to support and champion the perspectives of those living with and affected by rare diseases, to drive more action towards improved diagnosis and treatment options. Underpinning this was the response from medical and nursing students, as it was clear there was a lack of awareness and education in this space.  

Initial results from a study(opens in new tab/window) carried out by Medics 4 Rare Diseases, assessing the objective and subjective knowledge of rare diseases in UK medical students, found that half of the medical students surveyed could not define a rare disease, while less than 10% correctly identified that over 3 million people in the UK are affected by one. 

Through our Year of the Zebra initiative, we wanted to educate the global healthcare community and drive greater support for the hundreds of millions around the world diagnosed with rare diseases. We also aimed to provide the wider rare disease community with access to some of the most comprehensive information and resources covering all aspects of living with a rare condition. This included the latest evidence-based studies, research, clinical overviews, education materials, and other vital resources from respected health organizations around the world. 

On February 28th, 2023, marking Rare Disease Day, we proudly launched our global initiative to shed light on these often overlooked conditions. This effort was led by Osmosis from Elsevier, the world’s leading video education platform for clinicians and caregivers, as we pledged to highlight one “zebra,” or rare disease, weekly. 

Each disease was highlighted on our Rare Disease Hub(opens in new tab/window) and in the Zebra of the Week newsletter, as the healthcare community could explore the intricacies of each condition and access to educational materials, aiming to foster greater understanding and provide a supportive environment for those impacted. Through our partnership with YouTube, all highlighted conditions also had a dedicated video on that specific disease with links to helpful clinical content.   

Social media post supporting Year of the Zebra

Social media post supporting child with rare disease for Year of the Zebra.

"For millions of people around the world living with a rare disease, it can be difficult to access basic medical information online, let alone find a community that can offer understanding. Through YouTube's partnership with Osmosis from Elsevier for the 'Year of the Zebra,' we're proud to support this important work to demystify rare diseases, promote awareness, and create community through the power of video."

Dr. Garth Graham

DGG

Dr. Garth Graham

Director, Global Head and Public Health Partnerships at Healthcare and Google/YouTube

We continued our commitment to championing the voices and perspectives of some of the 400 million individuals worldwide who deal with rare diseases every single day through video testimonials. Our "I Am a Zebra" stories featured people living with rare diseases reflecting on their experiences, while the "I Know a Zebra" stories highlighted the perspectives of those who know someone living with a rare disease.  

The response from the healthcare community, particularly those in training, was profound. 

"Elsevier's Year of the Zebra campaign means a lot to me personally and I think it's fantastic way to raise awareness of the rare diseases amongst healthcare professionals—I hope that Elsevier's Year of the Zebra has helped you and other people understand that the impact of rare diseases on people like myself and the wider impact they can have on our day-to-day life and our family."

Zainab Alani

ZA

Zainab Alani

Medical student who lives with Myasthenia Gravis at University of Glasgow

Outside the healthcare community itself, the response from patients was overwhelmingly positive with many expressing newfound confidence in understanding and articulating their conditions to their parents or caregivers. The accessibility and clarity provided by resources available through the Rare Disease Hub enabled many to gain a sense of empowerment and agency in managing their health journeys, acting as a starting point to engage and educate people about their condition, building stronger communication and support networks within their immediate circle. 

"What truly took us by surprise was the profound impact we had not only within the medical community but also among the general public. Countless individuals expressed that for the first time, they were able to explain their rare disease condition to their families. These heartwarming moments served as a powerful reminder that this initiative goes far beyond the realm of Elsevier. It has become a beacon of understanding and hope for a community that had been in pursuit of answers and acknowledgment for an extended period."

Lindsey Smith

LS

Lindsey Smith

Director of Engagemet at Osmosis | Elsevier

Drug repurposing to fight rare diseases

A widely recognized means of addressing rare diseases is through drug repurposing, which is a cost-effective alternative new drug discovery for rare diseases. Issues within and examples of drug repurposing explored in Elsevier Connect in 2023 and early 2024 include:

Child in wheelchair, smiling

Collaborating to support the research community

In tandem with the launch of the Year of the Zebra initiative and our Rare Disease Hub, last February Elsevier’s Scientific Technical and Medical Journals division launched the new international, peer-reviewed, open-access scientific journal, Rare. Open Research in Rare Diseases. While focused on publishing the very latest research impacting the lives of patients, Rare highlights the patient experience through peer-reviewed articles from patients and caregivers themselves.  

The response to this initiative demonstrates a significant change from the research community to do more for this traditionally underserved field, and the appreciation for authors to submit their research and case reports. Within its first year, the journal received over 120 submissions to Rare and published 17 peer-reviewed articles which have been read 10,400 times.  

This year, in recognition of the substantial number of patients living with rare diseases that remain undiagnosed for extended periods of time, the journal is proud to become the Official Journal of the Undiagnosed Diseases Network International(opens in new tab/window).  

"The overwhelming response from the rare disease research community to our international open access journal, 'Rare. Open Research in Rare Diseases' underlines the critical importance of resources that seek to have a clinical impact on rare disease patients. Journals play a pivotal role in providing a platform for authors to share their latest findings, fostering international collaboration and advancing scientific knowledge for patients, clinicians, academics and policy makers. We recognise the ongoing efforts needed to raise awareness for people living with rare diseases and therefore invite the research community to continue contributing to Rare. Articles submitted to the journal before 28 February 2025 will have article publication costs waived if accepted, and for articles submitted by patients and caregivers, this will always be the case. Together, we believe we can make a difference to the wellbeing and quality of life of patients and families affected by these conditions."

Dr. Wendy van Zelst-Stams,

DWVZ

Dr. Wendy van Zelst-Stams

Editor-in-Chief of Rare and Open Reasearch in Rare Diseases at Rare

Elsevier partners with Every Cure

In the past year, we have also extended our support to the research community by aiding research into the use of generic drugs to treat rare diseases. We provided data and algorithms in partnership with the non-profit organization Every Cure(opens in new tab/window), which is developing an AI-driven tool using a variety of algorithms to scour all relevant knowledge databases to look for potential matches between each of the 3,000 FDA-approved drugs and all known diseases.

Every Cure logo

By leveraging novel AI techniques to analyze the world’s biomedical knowledge, Every Cure is working to identify 100 potential treatment opportunities in the next five years and advance 25 into further research, including clinical trials. Promising early leads include arginine for sickle cell disease, folinic acid for autism spectrum disorder, and bosutinib for ALS.

Hear from Every Cure President and Co-Founder, David Fajgenbaum, on how AI is driving drug repurposing

"I'm alive and in remission from my rare disease thanks to a repurposed drug that I discovered. However, my story is the exception, not the rule. Many patients with rare diseases are suffering while there may be a treatment sitting on the pharmacy counter that could be helpful for them and their disease. We're doing the work to unlock these additional lives saving uses of our existing medicines and we are so thankful for Elsevier's partnership. We are hopeful to build upon our pilot work to fully leverage the power and potential of Elsevier's unique data sources and analytic capabilities to help as many rare disease patients as possible."

Dr. David Fajgenbaum

DDF

Dr. David Fajgenbaum

Co-Founder and CEO at Every Cure

Our continued ambition

Though 2023 was the official Year of the Zebra, we know we cannot stop there. While our original goal of supporting and educating current healthcare professionals and those in training, we have seen first-hand how the positive impact of this initiative has resonated beyond the healthcare community, helping to support patients, families, caregivers, and researchers alike. 

This year, we are reaffirming our commitment to the rare disease community by pledging to cover at least 12 new conditions through various mediums such as videos, newsletters, and more. Additionally, we will launch 12 episodes of the "Raise the Line Podcasts: Rare Disease Edition," providing a platform to delve deeper into the unique challenges and stories within the rare disease community.

"We belive the 'Year of the Zebra' initiative, including our new open access journal and rare disease helthcare hub, coupled with Osmosis popular and effective educational videos, make us uniquely positioned to deliver meaningful content and resources for the benefit of these patients and their families. By working collaboratively with researchers and the patient advocacy community, we hope that these efforts continue to have an impact in creating awareness and driving action towards more research and quicker diagnoses and treatment options."

Portrait photo of Jan Herzhoff - President Health Markets at Elsevier

JH

Jan Herzhoff, PhD

President, Health Markets at Elsevier Health

At Elsevier Health, our ambition is to empower the clinicians of today and tomorrow to identify and address the diverse needs of every patient. Inclusive healthcare requires a deep understanding of the populations being served, including the unique needs and challenges faced by underrepresented groups. Building an inclusive world, where every patient is treated equally and fairly begins with a strong and inclusive culture.  

We believe that healthcare professionals must be equipped with the knowledge and skills to provide high-quality care to all patients, and through initiatives like the Year of the Zebra, we aim to champion the perspectives of all patients and promote inclusive care practices that bridge gaps in access and outcomes. 

By continuing to shine a light on rare diseases among the healthcare and research communities, and the impact it has on patients, families, and caregivers, we hope that we can help shape a landscape where every individual receives the quality care they deserve, regardless of the rarity. 

Hear from our own Elsevier family(opens in new tab/window) on how shining a light, supports them and their families.