Each year, Rare Disease Day is celebrated on the last day in February, a rare 28 day month that once in every four years has an even rarer day, the 29th February. This year, 2020, Rare Disease day falls on the 29th February. The main objective of today is to raise awareness amongst the general public and the policy decision makers about rare diseases and their impact on patient’s lives and their families and caregivers.

What is a Rare Disease?

Rare diseases as a group are not that rare, 1 in 20 people will live with a rare disease at some point in their life. In fact, there are over 300 million people living with one of the over 6000 identified rare diseases. That means that roughly 3.5 – 5.9% of the worldwide population are currently affected by a rare disease. However, of this large group of rare diseases, only 1 in 2,000 people in Europe are affected by any one disease (in the USA a disease is defined as rare when it affects fewer than 200,000 people at any given time).

Due to the infrequency of their occurrence, there is often scant information and scientific knowledge about many rare diseases, leading to delays in diagnosis or misdiagnosis. This is further compounded by the broad diversity of disorders, which frequently display relatively common symptoms that can mask the underlying rare disease. Even when a correct diagnosis is made, there are often no existing cures.

By raising awareness of rare diseases and providing support at the local, national or international level, you can help to advocate for better access to treatment, diagnosis, health and social care. To find out more about rare diseases in Europe, to find national patient organisations or to get involved with events on Rare Disease Day 2020 visit:



Advanced Therapy Medicinal Products (ATMPs) are a potential game changer in health care, aiming to cure chronic diseases rather than simply treat disease symptoms. They include cell and gene therapies and tissue engineering approaches to try to stimulate the regeneration of health. ATMPs provide a new hope for rare disease patients, particularly gene therapies, given that currently around 72% of rare diseases are thought to originate from a single gene defect. Advances in gene editing techniques, for example CRISPR/Cas9, are further boosting research into and progress towards treatment of a whole host of genetic diseases, including the rare disorders, sickle cell disease and β-thalassemia, for which two patients were recently reported (although not yet in a peer reviewed journal) as being successfully treated by CRISPR mediated gene editing1. However, a key issue for patients is the affordability and accessibility of these potentially curative treatments. It is not simply a question of reducing prices, as “Patients and caregivers have the most to lose if innovation is stifled”2. That said, “A treatment that is unavailable to patients who need it has no value at all”3. Below is an interesting review article from the patient/caregiver perspective on the complexities of pricing and access to gene therapies for patients with rare diseases.


RESTORE aims to connect all the players, including patients, in the ATMP development pipeline to make these advanced therapies affordable and accessible to all those in need. Pricing is a complex and tricky issue within the field of Advanced Therapies and is not a task that will be easily accomplished. That is why European large scale research initiatives such as RESTORE will be essential for navigating the complex and multi-disciplinary field of Advanced Therapies.

  1. https://www.nature.com/articles/d41587-019-00035-2
  2. https://doi.org/10.1038/s41434-019-0110-7
  3. https://doi.org/10.1016/j.ymthe.2018.10.017