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Rare disease digital hope – Active research participation by patients and caregivers lead knowledge sharing – A truly global effort for change

Reviewer: Ms Aleena Raza

A rare disease is a health condition that affects fewer than 200,000 people in the US and in the European Union, a rare disease is one that affects no more than 1 person in 2,000 as per its definition. 

The global body on health, World Health Organisation’s position on rare disease states that all health conditions should deserve due attention and affected individuals should not be left behind than diseases that affect millions with the excuse of the relatively small number of individuals suffering from rare diseases, this reason alone should not result to make it any less relevant or significant.

The position adopted by a global health organisation is welcomed, but the reality is that beyond this statement efforts required for managing the rare disease crisis is at best a drop in the ocean that has been seen on the ground. There’s a steep hill to climb for patients whose diseases are not widely recognised and disregarded based on the terms of its likelihood to appear in more of the population. For a number of reasons we seem to be losing this battle against the fight to save and improve patients’ lives that suffer on a daily basis from these conditions.

Rare diseases present a number of different challenges from those of more common health conditions. As health care professionals in general have a better handle on commonly occurring medical problems however fail to recognise therefore treat such problems due to lack of any experience in dealing with rare disease conditions. As the name suggests rare diseases are overlooked as potential diagnosis due to a small number of patients if affects. Additionally then there are issues of lack of validated biomarkers, surrogate end-points, and the lack clinical expertise as mentioned, as well as expert centres, resources for research, the logistics involved in reaching widely dispersed patients all presenting significant barriers.

Lack of awareness on these rare conditions and factors mentioned, results in further delays in patients receiving a diagnosis of their condition let alone the treatment. For a sizeable portion of patients their diagnostic journey takes them anywhere from 5 to 30 years before they are made aware of their diagnosis and have passed through a number of health care reviews and practitioners with multiple erroneous diagnosis through their journey.

The development and continuation of the harmful effects of rare diseases are a bigger problem which many physicians fail to realise, valuable time spent wasted in misdiagnosing a patient throughout the prime period of time required for receiving treatment is often misused in the least of necessary ways conducting to the overall deterioration of the patient’s condition until it’s too late for redeeming early on mistakes.

Medical expertise for each of these diseases is a resource that is not available in most countries and where it is, these are few and far between. Knowledge of rare diseases is sparse and the limited funding that is available in research has to go along with investments dedicated for infrastructure and international networks such as biobanks, registries and networks of expertise. Where required these networks are critical in provision of opportunities to train health care professionals on rare diseases. We are at present faced with significant challenges in our fight against the management of these important health conditions unless we think of innovative ways to approach this problem.

How many rare diseases are there?

Based on information from the US, it is estimated that there may be as many as 7,000 rare diseases. The total number of people in US living with a rare condition is estimated at between 25-30 million. This demonstrates that although the disease itself may be considered rare it does not take away from the fact that the total number of people with a rare disease is large and is likely to rise if not addressed.

The above figures that have been provided are conservative measures, since in the United States, only a few types of rare diseases are tracked when a person is diagnosed which mostly relate to certain infectious diseases, birth defects, and cancers. In most cases rare diseases are not tracked, it is difficult to determine the exact figures of rare diseases or how many people are actually affected.

Considering the challenges of recording the correct numbers of individuals in the US, therefore when we are asked about global estimates of rare conditions, we can only provide rough estimates which have been reported as one out of 15 people worldwide could be affected by a rare (“orphan”) disease – 400 million people worldwide, of whom 30 million are in Europe.

What causes rare diseases?

Causes of rare disease are varied. Majority are considered to be genetic, referring to changes in genes or chromosomes. Rare diseases, include neurological conditions, rare cancers, metabolic abnormalities and autoimmune diseases, which are not inherited. The exact cause of many rare diseases still remains unknown and with the limited funding available research on this continues.

What is being done to develop treatments for rare diseases?

There are government supported programs both in US and EU. Government bodies like the National Institutes of Health (NIH) supports research to improve the health of people with rare diseases amongst other health conditions. Many of the 27 Institutes and centers at the NIH fund medical research for rare diseases. 

One of these Centers, the National Center for Advancing Translational Sciences (NCATS), focuses on getting new cures and treatments to all patients more quickly. NCATS supports research through collaborative projects to study common themes and causes of related diseases. This approach aims to speed the development of treatments that will eventually serve both rare and common diseases.

The NCATS Office of Rare Diseases Research (ORDR) guides and coordinates NIH-wide activities involving research for rare diseases. Some of the NCATS programs for rare diseases include:

Similarly in Europe, a proposed European Partnership on rare diseases is expected to catalyse a systemic transformation in the area, with the goal of improving the quality of life for people living with a rare disease.

Other collaborative programs in the EU were launched in January 2019 of the European Joint Programme on Rare Diseases (EJP RD). Aim of EJP RD is creating a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation. It gathers research funders, universities, research organisations and infrastructures, hospitals and patient organisations from more than 135 institutions in 35 countries, including 26 out of 27 EU countries.

A study on rare disease legislation, looked at the policies, regulations, and programs across a diverse sample of countries on the key needs of the rare disease community. Substantial differences were noted in rare disease infrastructure across countries. There is a further need for assessments to determine whether there are policies that support the ongoing rare disease programs and do these have meaningful effects on patient care.

There is also a need to define best practices in rare disease management and harmonize efforts across the globe in improving patient care. Research faces a multitude of challenges, including factors of geographical distribution of cases, research sites, health services and funding which are just a few of the critical elements that are of mention.

Rules determining approval for marketing authorization and reimbursement for rare disease condition requires the acceptance of evidence generated during drug development may need to be considered differently than that required for the common health conditions. Treatment is more likely to be provided at an early stage where the medical need is great with strong evidence of its impacts on the patient however even this is limited.

There is a need for evidence generation for small populations that meet the regulatory requirements for approval of medicines. Funding is required for large multidisciplinary networks to stimulate collaboration and bring together medical experts, reference centres and patients’ groups. This infrastructure is necessary for performance of clinical trials and subsequent monitoring of newly authorized products.

How can each individual bring a change?

For these types of health conditions the role of patient organisations and patient participation plays a critical role in progressing the disease related knowledge and the success of both observational and therapeutic research studies (interventional research).

Another hope is patients’ engagement with the social media such as forums on facebook and digital health platforms, forming and participating in sharing of their diagnostic journey and helping other patients find a hope, supporting health research by coming together would be a step towards making a different. You can also support the work that has been taken by the team at medsearch global with their launch of, where patients are not only able to identify the research studies once they have received their diagnosis but also engaging with other patients on friends of rare disease forums to communicate and help other patients support the research efforts in this area, making the task to finding effective medicines sooner.

Patients can substantially alter the course of generation of scientific evidence we desperately require to build our knowledge in order to develop effective and life changing treatments. By engaging with health research and supporting the recruitment efforts in the clinical trials they can help the health scientists and health research based pharmaceutical and biotech companies seeking to develop these medicines. Let all of us play our roles in making health research a matter of priority so that we have a cure available so that each individual can achieve their full potentials at a chance in life.

Here we share with you a few of the resources for those seeking assistance with rare disease conditions which you may find useful:

Resources :


Friend of Rare Disease


Rare diseases | European Commission (

MedlinePlus Genetics


 PubMed search 


1. WHO | Statement for Rare Disease Day

2. FAQs About Rare Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (

3. Rare diseases | European Commission (

4. Review of 11 national policies for rare diseases in the context of key patient needs | Orphanet Journal of Rare Diseases | Full Text (

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