Driving research, providing support and improving outcomes for patients and their families affected by rare conditions

The 11th European Conference on Rare Diseases & Orphan Products 2022 was held from 27th June to 1st July. We were delighted to attend and present at this event focused on putting rare disease policy into action. Over 840 participants from 61 countries came together with the overall goal of improving the quality of life of those with rare conditions. Although there are thousands of rare diseases, collectively they can be thought of as common. It is critical for our voices to be heard and together represent the rare disease community to drive change.

Patient Data

Several themes were raised throughout the event, however there was a strong focus on the use of patient data in research. It was stressed that it is necessary to ensure that the use of any patient data must lead to a direct impact on the patients themselves. Incorporation of patient health data into research can be approached in different ways.

Research and healthcare should not be thought of separately and need to be interlinked. Generating real world evidence through the use of patient registries is an important aspect of driving research. However, using patient health data to inform changes in healthcare policy is also critical. For this to happen, better integration of patient health data into healthcare systems is needed. Many rare conditions do not have their own ICD code. This can make rare disease patients appear invisible when it comes to informing healthcare policy. Work is being done to improve this at national levels, which is needed before change can happen on an international scale.


Another theme throughout the conference was collaboration. European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe. There are 24 ERNs, each one focused on a different theme. They enable discussions about rare conditions to inform policy or the development of clinical guidelines. A session was held focused on how ERNs can engage with industry to help address the unmet needs of the rare disease community. These needs may vary from improving diagnosis to developing new treatments. Another focus of ERNs has been the development of patient registries to generate high quality data . Registries can be critical in understanding the natural history of a rare condition. They can also be critical in identifying outcome measures needed for the development of new guidelines, treatments or in clinical trials.

Journey to Diagnosis

The importance of early diagnosis was also featured at the event. On average it takes 7 years for a rare disease to be correctly diagnosed.  Some initial results from the Global Rare Barometer Survey were presented. This survey ran from March to June 2022 and had 13000 respondents from around the world. The results showed there were multiple barriers and delays to obtaining a diagnosis. These included a lack of awareness at the primary care level and a lack of coordination of care. In many cases, patients find themselves coordinating their own care. However, the solutions to these problems are not simple. It is impossible for primary care practitioners to be aware of every rare condition. Instead, they need to be educated on how to find the right information to help an individual. Management of rare conditions could be improved through the creation of centres of expertise. These could coordinate the care a patient requires. However, it is still important to know what the journey through care should look like.

BHD Syndrome International Registry

Katie Nightingale, Charity Officer at the BHD Foundation and Myrovlytis Trust, presented her work developing the BHD Syndrome International Registry. This poster has been approved and published at the European Conference on Rare Disease & Orphan Products 2022 and republished here with their permission. Find out more about the registry and how to get involved.

We were delighted to be able to join these discussions and would like to thank the organisers of the conference for hosting such a thought-provoking event. We are committed to improving the quality of life of those with Birt-Hogg-Dubé syndrome. We look forward to what the future holds for improving diagnosis, care and treatment within rare diseases.