新浪博客
2013年，患者和医疗机构以“罕见病无国界”（'Rare
Disorders Without
Borders'）为主题举行活动纪念“国际罕见病日”。
罕见病的患病人数仅占人口比例极小一部分，大约每2，000人，甚至每5,000人中只有一人患罕见病。对一座城市或一个国家而言，这是一个小数字。但对于整个世界而言，数千万人口遭受7,000多种不同寻常的疾病带来的痛苦，这些疾病通常是遗传性的。
以前，这些疾病的患者和他们的家庭都各自承受着苦痛，有时甚至不能见容于社区。但在2008年，覆盖 51个国家的罕见病患者联盟，欧洲罕见病组织（EURODIS）发起“国际罕见病日”，唤起人们在更大程度上关心这个群体的社会和医疗需求。63个国家的民众参加了2012年的纪念活动。
今年，美国国家卫生研究院（U.S. National Institutes of Health）于2月28日到3月1日举行了为期两天的会议，要求提高对此问题的认识，鼓励合作研究，并将注意力集中到罕见病领域的新举措上。
国家卫生研究院在其有关此次会议的公告中说：“罕见病往往反复发作，迁延不愈，伤人元气，使人丧失行动能力，可发展成重症并危及生命。有关此类疾病的信息往往缺乏，研究通常不足。受影响的群体面临着诸多挑战，例如诊断延迟、误诊、心理负担等，而且患者及其家属缺乏支持性服务。
美国采取行动改善对此类患者需求的反应可追溯到1983年，那一年美国通过了《孤儿药物法案》（Orphan Drug Act）。该法案创造激励机制，鼓励制药公司开发罕见病的治疗方法，尽管这类药品潜在消费者的人数可能很少。
社会活动人士为该项法案的通过发挥了推动作用。他们在那次运动获得成功后成立了“全国罕见病组织”（ National Organization for Rare Disorders），今年是该组织成立30周年。
据全国罕见病组织报告，在《孤儿药物法案》通过前的数十年中，业界只研发出10种治疗罕见病的新药。自1983年以来，有超过2,700种的潜在治疗方法进入研究管道，其中400多种已被美国食品和药品管理局（U.S. Food and Drug Administration）批准。
美国政府通过国家卫生研究院罕见病研究办公室（Office of Rare Diseases Research）支持对罕见病持续进行研究。该研究办公室致力于支持并协调研究人员的工作，提供有关这类疾病的信息。鉴于疾病的罕见性，这项功能至关重要。
国家卫生研究院还为促进罕见病的治疗努力加快治疗药物的研发过程。药物的研发过程通常时间很长，复杂且昂贵。“罕见病和被忽视疾病治疗计划”（Therapeutics for Rare and Neglected Diseases program）通过发挥科学界、非政府组织及制药公司等所有方面的专长，激励药品开发和合作研究。罕见病研究办公室致力于克服药品开发遇到的风险和高额成本，弥补基础研究发现与新药人体临床试验之间的差距。
国家卫生研究院还设有基因与罕见病信息中心（Genetic and Rare Diseases Information Center），帮助患者和公众更好地了解这些疾病。
Read more: http://iipdigital.usembassy.gov/st/chinese/article/2013/03/20130304143642.html#ixzz2MirLlOaB
Children were part of a Rare Disease Day event in New Delhi, where
families rallied for more government support.
Washington — There is strength in numbers when it comes to rare diseases, and that fact has led to recognition of Rare Disease Day every February 28 since 2008.
The occasion is marked by patient and medical organizations in 2013 under the banner of “Rare Disorders Without Borders.”
Rare diseases strike only tiny percentages of the population: 1 person in 2,000 or maybe even 1 in 5,000. That’s a small number of a people in one city or country, but worldwide, tens of millions of people suffer from more than 7,000 unusual diseases, usually genetic in nature.
Until recently, these people and their families bore their conditions alone and were sometimes even shunned by communities. But in 2008, EURODIS, a patient organization alliance reaching 51 countries, began Rare Disease Day to focus greater attention on both the social and medical needs of this population. People in 63 countries were involved in events in 2012.
This year, the U.S. National Institutes of Health (NIH) held a two-day conference February 28 and March 1 to raise awareness about the issues, to encourage research collaborations and to focus attention on new initiatives in the area of rare diseases.
'Rare diseases can be chronic, progressive, debilitating, disabling, severe and life-threatening. Information is often scarce and research is usually insufficient,' NIH reported in its announcement about the event. 'People affected face challenges such as delays in obtaining a diagnosis, misdiagnosis, psychological burden and lack of support services for the patient and family.'
U.S. action to improve its response to the needs of these patients dates back to 1983 with passage of the Orphan Drug Act. The law created incentives for pharmaceutical companies to develop cures and treatments for rare conditions, even though the number of potential consumers for those products might be small.
Activists were instrumental in passage of that legislation, and after that successful campaign they created the National Organization for Rare Disorders (NORD), celebrating its 30th anniversary this year.
In the decade before the law was passed, NORD reports, only 10 new drugs were developed by industry for people with rare diseases. Since 1983, more than 2,700 potential treatments have entered the research pipeline and more than 400 have been approved by the U.S. Food and Drug Administration.
The U.S. government supports ongoing research into rare diseases and possible treatments at the Office of Rare Diseases Research (ORDR) at the National Institutes of Health. The office works to support and coordinate the work of researchers and to provide information about these conditions, a critical function in view of their rarity.
NIH is also working to accelerate rare disease therapies through the drug development process, which is usually long, complicated and expensive. The Therapeutics for Rare and Neglected Diseases program stimulates drug discovery and research collaborations by tapping into the expertise of all sectors — science, nonprofit organizations and pharmaceutical companies. The office strives to overcome the risks and high costs that complicate drug development and bridge the gap between a basic research discovery and testing a new drug in humans.
NIH also maintains a Genetic and Rare Diseases Information Center to help patients and the public better understand these conditions.
Read more: http://iipdigital.usembassy.gov/st/english/article/2013/03/20130301143550.html#ixzz2MirNTApR
罕见病的患病人数仅占人口比例极小一部分，大约每2，000人，甚至每5,000人中只有一人患罕见病。对一座城市或一个国家而言，这是一个小数字。但对于整个世界而言，数千万人口遭受7,000多种不同寻常的疾病带来的痛苦，这些疾病通常是遗传性的。
以前，这些疾病的患者和他们的家庭都各自承受着苦痛，有时甚至不能见容于社区。但在2008年，覆盖 51个国家的罕见病患者联盟，欧洲罕见病组织（EURODIS）发起“国际罕见病日”，唤起人们在更大程度上关心这个群体的社会和医疗需求。63个国家的民众参加了2012年的纪念活动。
今年，美国国家卫生研究院（U.S. National Institutes of Health）于2月28日到3月1日举行了为期两天的会议，要求提高对此问题的认识，鼓励合作研究，并将注意力集中到罕见病领域的新举措上。
国家卫生研究院在其有关此次会议的公告中说：“罕见病往往反复发作，迁延不愈，伤人元气，使人丧失行动能力，可发展成重症并危及生命。有关此类疾病的信息往往缺乏，研究通常不足。受影响的群体面临着诸多挑战，例如诊断延迟、误诊、心理负担等，而且患者及其家属缺乏支持性服务。
美国采取行动改善对此类患者需求的反应可追溯到1983年，那一年美国通过了《孤儿药物法案》（Orphan Drug Act）。该法案创造激励机制，鼓励制药公司开发罕见病的治疗方法，尽管这类药品潜在消费者的人数可能很少。
社会活动人士为该项法案的通过发挥了推动作用。他们在那次运动获得成功后成立了“全国罕见病组织”（ National Organization for Rare Disorders），今年是该组织成立30周年。
据全国罕见病组织报告，在《孤儿药物法案》通过前的数十年中，业界只研发出10种治疗罕见病的新药。自1983年以来，有超过2,700种的潜在治疗方法进入研究管道，其中400多种已被美国食品和药品管理局（U.S. Food and Drug Administration）批准。
美国政府通过国家卫生研究院罕见病研究办公室（Office of Rare Diseases Research）支持对罕见病持续进行研究。该研究办公室致力于支持并协调研究人员的工作，提供有关这类疾病的信息。鉴于疾病的罕见性，这项功能至关重要。
国家卫生研究院还为促进罕见病的治疗努力加快治疗药物的研发过程。药物的研发过程通常时间很长，复杂且昂贵。“罕见病和被忽视疾病治疗计划”（Therapeutics for Rare and Neglected Diseases program）通过发挥科学界、非政府组织及制药公司等所有方面的专长，激励药品开发和合作研究。罕见病研究办公室致力于克服药品开发遇到的风险和高额成本，弥补基础研究发现与新药人体临床试验之间的差距。
国家卫生研究院还设有基因与罕见病信息中心（Genetic and Rare Diseases Information Center），帮助患者和公众更好地了解这些疾病。
Read more: http://iipdigital.usembassy.gov/st/chinese/article/2013/03/20130304143642.html#ixzz2MirLlOaB
Support Grows for Patients with Rare Diseases
01 March 2013
Children were part of a Rare Disease Day event in New Delhi, where
families rallied for more government support.Washington — There is strength in numbers when it comes to rare diseases, and that fact has led to recognition of Rare Disease Day every February 28 since 2008.
The occasion is marked by patient and medical organizations in 2013 under the banner of “Rare Disorders Without Borders.”
Rare diseases strike only tiny percentages of the population: 1 person in 2,000 or maybe even 1 in 5,000. That’s a small number of a people in one city or country, but worldwide, tens of millions of people suffer from more than 7,000 unusual diseases, usually genetic in nature.
Until recently, these people and their families bore their conditions alone and were sometimes even shunned by communities. But in 2008, EURODIS, a patient organization alliance reaching 51 countries, began Rare Disease Day to focus greater attention on both the social and medical needs of this population. People in 63 countries were involved in events in 2012.
This year, the U.S. National Institutes of Health (NIH) held a two-day conference February 28 and March 1 to raise awareness about the issues, to encourage research collaborations and to focus attention on new initiatives in the area of rare diseases.
'Rare diseases can be chronic, progressive, debilitating, disabling, severe and life-threatening. Information is often scarce and research is usually insufficient,' NIH reported in its announcement about the event. 'People affected face challenges such as delays in obtaining a diagnosis, misdiagnosis, psychological burden and lack of support services for the patient and family.'
U.S. action to improve its response to the needs of these patients dates back to 1983 with passage of the Orphan Drug Act. The law created incentives for pharmaceutical companies to develop cures and treatments for rare conditions, even though the number of potential consumers for those products might be small.
Activists were instrumental in passage of that legislation, and after that successful campaign they created the National Organization for Rare Disorders (NORD), celebrating its 30th anniversary this year.
In the decade before the law was passed, NORD reports, only 10 new drugs were developed by industry for people with rare diseases. Since 1983, more than 2,700 potential treatments have entered the research pipeline and more than 400 have been approved by the U.S. Food and Drug Administration.
The U.S. government supports ongoing research into rare diseases and possible treatments at the Office of Rare Diseases Research (ORDR) at the National Institutes of Health. The office works to support and coordinate the work of researchers and to provide information about these conditions, a critical function in view of their rarity.
NIH is also working to accelerate rare disease therapies through the drug development process, which is usually long, complicated and expensive. The Therapeutics for Rare and Neglected Diseases program stimulates drug discovery and research collaborations by tapping into the expertise of all sectors — science, nonprofit organizations and pharmaceutical companies. The office strives to overcome the risks and high costs that complicate drug development and bridge the gap between a basic research discovery and testing a new drug in humans.
NIH also maintains a Genetic and Rare Diseases Information Center to help patients and the public better understand these conditions.
Read more: http://iipdigital.usembassy.gov/st/english/article/2013/03/20130301143550.html#ixzz2MirNTApR