While not all rare diseases are genetic, individual genetic disorders are rare. But despite individual genetic disorders being rare, collectively they affect 1 in 25 children. Furthermore, 80% of rare diseases are caused by faulty genes. Therefore when we discuss genetic diseases it is in essence a discussion on rare diseases.
Today marks Jeans for Genes Day, a fundraising event organized by Genetic Disorders UK to raise money for causes that help children with genetic diseases. There are more than 6,000 known genetic disorders, and this number is constantly increasing as patient sequencing technologies become more accessible. Genetic diseases can affect a person’s senses, movement, ability to learn or appearance, and can range from split-hand/split-foot malformation, a congenital limb deformity, to Chediak-Higashi syndrome, an immunodeficiency caused by disruption of a lysosomal trafficking protein.
Genetic (rare) diseases inherently need to be treated differently to common diseases, often requiring increased global collaboration for clinical trials and knowledge sharing. But despite these specific requirements it has classically been the case that less attention is given to these patients in terms of training for medical staff, specialist centres and pharmaceutical investment into new treatments.
The European Union Committee of Experts on Rare Diseases (EUCERD) was a 3-year initiative entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in the future, in addition to helping strengthen liaison at both European and International levels in the field of rare diseases. A 2014 Editorial in Orphanet Journal of Rare Diseases by Ségolène Aymé and Charlotte Rodwell describes the EUCERD’s efforts and achievements, and their recommendations on key areas of interest for the rare disease community, including centres of expertise; European Reference Networks; patient registries and databases; newborn screening; and indicators for national rare disease plans/strategies.
A complementary Editorial by Stephen Groft, former Director of the Office of Rare Diseases Research (National Institutes of Health, USA), provides a USA perspective on rare disease research. There has been an increase in national collaborative efforts in USA rare disease research in order to make it possible to attain sufficient preclinical and clinical information for orphan drug development and approval. This increases the likelihood of potentially useful trial orphan drugs reaching the clinic. In addition, there has been an increase in the total number of orphan products at different stages of development, which is certainly encouraging.
While innovation of rare disease policy is rapidly evolving in some parts of the world, it is true to say that other regions are further behind. A new Letter to the Editor in Orphanet Journal of Rare Diseases describes the need for action to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region. With an estimated 92 million people in the Asia-Pacific region affected by rare diseases, this is clearly too large a number to not be given further attention. Swee-Sung Soon et al. identify major areas that require development, including legislative definitions; establishing policies by objectively measuring the impact brought about by rare diseases; establishing platforms to reach out to the rare disease community; and fostering collaboration.
We hope that campaigns such as Jeans for Genes Day will help to improve the care given to patients with genetic disorders all over the world, and that the knowledge learned so far on effective rare disease strategy and policy can be shared.