Awareness of the vast impact of rare diseases, which affect approximately 300 million people globally (1), has significantly increased over the years, leading to increased funding and investment in rare disease research and therapy development.  

Although more than half of the novel drug approvals by the FDA’s Center for Drug Evaluation and Research last year were for orphan drugs (2), some 95% of rare diseases still have no available treatments (3). Consequently, much remains to be done to address this unmet need. Patient advocacy groups are key raising awareness of this unmet need and supporting the case for change.  

For example, the “Rare Disease Moonshot”, “Aspire4Rare”, “European Patient Advocacy Groups” and “The International Rare Diseases Research Consortium Chrysalis Task Force” programs all bring together patient advocacy groups with other rare disease stakeholders such as rare disease patients, pharmaceutical and biotech companies, regulatory agencies, policy-makers, and healthcare providers, with the aim of progressing rare disease therapy development, reforming healthcare systems to address the needs of rare disease patients through policy change, and identifying ways of generating more investment into rare disease therapies.  

Patient advocacy groups can also play a key role in bridging the gap between individuals living with rare diseases and policymakers who construct the regulations and guidelines which will impact their care and quality of life. 

As highlighted in Aspire4Rare: A global guidance framework for rare disease policy, “Patient advocacy groups have a critical role to play in collecting the data needed to make effective policy for people living with rare disease.” – Rachel Sher, Former VP of Policy and Regulatory Affairs for NORD. 

Of particular importance are patient registries, which are a key component for patient advocacy and research. For rare diseases, patient registries are particularly valuable due to the challenges posed by the small and geographically dispersed patient populations. Such registries use observational study methods to collect clinical and other data to evaluate specified outcomes for a population with a particular disease. Studies based on well-designed patient registries can provide compelling real-world data on clinical practice, patient outcomes, safety, and cost-effectiveness, thereby supporting evidence development and decision-making. 

However, setting up and maintaining a patient registry is a significant undertaking, involving several complex and resource-intensive steps. But outside of these formal structures, there are many other ways that patient advocacy groups play a critical role in data collection. This often includes surveys and interviews to collect firsthand accounts of patient and caregiver experiences, and highlight gaps in the healthcare system and areas needing attention, as well as documenting the financial burden associated with medical treatments, ongoing care, and lost productivity, which can help advocate for financial assistance programs and insurance coverage improvements. Quality of life measures, such as assessing how the disease affects everyday activities, mobility, and independence, and the psychological impact of living with a rare disease, are also vital data collection points which can inform the development of comprehensive care plans. 

Epidemiological insights to support patient advocacy 

Further, advocacy organisations such as the EveryLife Foundation for Rare Diseases, and others, aim to generate evidence to support the case for policy change with reports that quantify the significant clinical and economic burden of rare diseases on patients, families, and healthcare systems across various populations (4,5). These data-driven insights provide crucial evidence to advocate for meaningful change for rare disease communities.   

However, determining accurate estimates of the patient population for many, if not most, rare diseases, remains challenging as outlined in our recent article. Furthermore, there is limited data available on the potential impacts of interventions on the clinical and economic burden of rare diseases. We aim to address both these issues at HealthLumen with our genetic datamining methodology and microsimulation modelling platform.  

Generating strong evidence to quantify the current and future rare disease burden – and stratifying epidemiological studies by ancestry across different populations using population genetic data – is critical for supporting patient advocacy efforts. This knowledge can drive impactful change in several ways:  

Policy change  

Accurate estimates regarding how many people are living with rare conditions, and projecting the clinical and economic consequences of delayed diagnosis or lack of available treatments, can encourage policymakers to respond to calls for action from rare disease patient advocacy groups regarding the need for earlier screening interventions and therapy development. Importantly, such data can also help to inform evidence-based, effective policies and regulations to optimally support rare disease patients and their families across different populations. This can bring rare disease communities closer to better and more accessible healthcare and diagnostic services, promote rare disease funding and research, and drive the development and approval of new orphan drugs.  

Awareness and visibility  

As rare diseases each affect a small proportion of the population, there is often limited general, and even medical, knowledge regarding their etiology and symptoms. Robust data regarding how many people live with rare diseases, and quantifying their projected future clinical and financial burden, can help to raise awareness and educate key stakeholders on the extensive impact that these conditions have on patients and their families, in addition to healthcare systems and society at large. With this increased visibility and evidence-based impetus, greater momentum can be generated to advocate for the needs of the rare disease community.  

Resource allocation  

Robust epidemiological data regarding the size of rare disease patient populations, and projections of the future burden of rare diseases, can help advocacy groups to determine where unmet need is particularly high, and to identify data-driven demands to ensure that rare disease communities receive an equitable share of healthcare resources over the long-term. Epidemiological data and related economic impacts of rare diseases can also highlight the need for increased funding for research, by demonstrating the health outcomes and economic savings that interventions can bring by reducing disease burden.  

Research prioritisation   

A detailed understanding of the current and future burden of rare diseases can help to support the case for investing in rare disease research, and direct research efforts to address the most pressing needs within the rare disease community. Detailed epidemiological data can thus support the development of strategic research agendas with a patient-centred approach, facilitating the collaboration between advocacy groups, researchers and funding bodies to address some of the key issues affecting rare disease communities. Such patient-centred research can also improve the impact of studies, ultimately leading to better clinical results for rare disease patients.  

Community building   

Greater awareness of rare diseases can help to strengthen and expand supportive community networks between rare disease patients, their families, caregivers, healthcare professionals, researchers and policy makers. In particular, collective action can be facilitated by identifying common priorities and pooling resources across borders, to more effectively campaign for shared goals and address the challenges facing the rare disease community around the globe.  


Combining expertise in rare genetic disease epidemiology with a strong foundation in the public sector,  HealthLumen’s solutions  can support advocacy groups with the data-driven insights necessary to drive change for the rare genetic disease community. Please contact us to discuss how we can support your patient advocacy program.  



  1. Rare diseases, common challenges
  2. New Drug Therapy Approvals 2023
  3. Delivering Hope for Rare Diseases
  4. The National Economic Burden of Rare Disease Study
  5. The Cost of Delayed Diagnosis in Rare Disease

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