在COVID-19大流行病开始时，宣布英国各地的遗传学实验室将被重新使用以支持更多的Covid-19-19。现在这很容易理解。毕竟，Covid-19曾经是和毕竟是更加紧迫的研究问题。

But what does this mean for all of the patients with rare, genetic conditions who were relying on the same laboratories for a diagnosis? Because of COVID-19, 6 in 10 patients have not been able to access testing for their（健康）状况。This has a direct effect on patient empowerment as they are left feeling poorly informed, often compounded by misdiagnoses and poor coordination of care.

随着越来越多的资金，时间和资源不可避免地涉足Covid-19的研究，稀有疾病（RD）研究提出了哪些挑战？

暂停临床试验和研究延迟

一个创造ive solution to the problem has been the rise of ‘virtual trials’ where trial data is collected using technology.

由于Covid-19的大流行，全球临床试验的入学率减少了65%和the number of clinical trials classified as ‘suspended’ on the US National Institute of Health’s registry hasskyrocketed。临床试验需要定期面对医院和专业指导的治疗干预。这在一个大流行中是不可能的，政府指南阻止了医院的社会互动和人流。

For RD patients who rely on clinical trials for access to treatment, this is a devastating prospect. 24% of participants in the EURODIS Rare Barometer COVID-19 survey said that they have had to discontinue one of their medicines or treatments since the pandemicbegan。For Amber Freed, a mother who fought tooth and nail for her child to receive an experimental drug treatment, it has been disheartening to hear that the trial has beensuspended。

一个创造ive solution to the problem has been the rise of ‘virtual trials’ where trial data is collected using technology. Trial design is reshaped to allow for therapies to be administered at home with training provided to caregivers. There are multiple benefits to this trial design. There is the potential to save money and overcome geographical barriers – which can be useful when studying a small population of RD patients.

资金和筹款

患者和家庭有责任为自己的治疗筹款

I am grateful to have been given the opportunity to speak to the European board representative of the International WAGR Syndrome Association (IWSA) – a non-profit organisation dedicated to raising awareness of, stimulating research for, and supporting families affected by WAGR syndrome. WAGR syndrome is a rare condition which increases patient risk of developing aWilms tumour. Patients may also have other cardinal features suchAniridia (absence of the iris),Genitourinary problems and aRange of developmentalabnormalities。

2019年，IWSA的总收入为70,000美元，而在2020年，IWSA的预计收入降低了25％。这将直接影响IWSA财务的WAGR综合征的研究。尽管虚拟筹款活动仍然保持活跃和运行，但人们担心筹款活动的范围不会像往年那样大。

However, the funding problem for RD research lies on a deeper scale than this. It should not be the responsibility of the patients and families to fundraise for their own treatment. In a fair world, all RD funding would be covered by the public sector. For many years, groups like the European Organisation for Rare Diseases (EURORDIS) and Rare Diseases International (RDI) have been lobbying for RD to be considered an imperative public health priority. Although RDs may individually affect less than 1 in 2000 people, they collectively affect 1 in 17 people – no small number.

In September 2019, the UN states accepted a milestone declaration to include rare diseases as part of the universal healthcare coverage (UHC）。此外，欧盟已经投资了超过14亿欧元，以支持RD的200多个合作研究项目field。这些突破表明我们对RD的认识正在提高，以及敦促政府向RD研究分配更多资金的重要性。

What have we learned from the current situation to carry into the future?

大流行有助于强调提高对RD的认识的重要性。有covid-19的风险歧视脆弱的RD患者不接受公平的整体护理。该护理的一部分涉及增强RD研究，因为在这个多样化的领域仍然可以发现很多。随着创造性策略的应用，例如虚拟试验以及游说，以使公共部门将更多资金分配给RD，我们可以希望改善未来的RD研究的交付。