Imprensa Addressing rare diseases in a pandemic

Rare diseases and Primary Immunodeficiency (PID) in particular are a challenge to health systems and policymakers. Their diversity alone – there are over 250 identified PID disorders - makes it harder to develop effective treatment plans and to engage laboratories in the research and development of adequate pharmaceutical products. 

 These difficulties increase in health emergencies, such as the one we are experiencing, since most resources are being channelled to address the COVID-19 pandemic, while trying to maintain adequate levels of response to other common illnesses affecting the general population.

 It is hard to estimate the full impact this crisis had in patients with rare diseases. Lack of adequate treatment for many comes to mind, but also delays in diagnosis that could prevent unnecessary suffering.

 We need to pay special attention to this population in all our health policies, including vaccination programmes.  We must also ensure that policy makers, researchers and laboratories do not overlook rare diseases. 

Public funding for R&I involving rare diseases was a priority on Horizon 2020, a programme to which I contributed as rapporteur. More than 1.4 billion euros were invested in over 200 collaborative research projects in this field.  The launch of the European Joint Programme of Rare Diseases, as well as the International Rare Diseases Research Consortium, in which the EU cooperates with Africa, Australia, Asia and North America, were other examples of initiatives that need to be continued and further nurtured.