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 marksJeans for Genes Day, a fundraising event organized byGenetic Disorders UKto 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分脚/分脚畸形，先天性肢体畸形，Chediak-Higashi综合征, 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社论inorphanet稀有疾病杂志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社论史蒂芬·格罗夫特（Stephen Groft）是稀有疾病研究办公室（美国国立卫生研究院）的前主任，对稀有疾病研究提供了美国的观点。美国罕见疾病研究的国家合作努力有所增加，以便能够获得足够的临床前和临床信息来获得孤儿的药物开发和批准。这增加了潜在的有用试验孤儿药物到达诊所的可能性。此外，在不同开发阶段，孤儿产品总数增加了，这肯定令人鼓舞。

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给编辑的信inOrphanet罕见疾病杂志》描述了东北ed foraction 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等。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.

由山姆·罗斯（Sam Rose）撰写（@Rosenovich), Journal Development Editor oforphanet稀有疾病杂志