新型国际计划“全球球蛋白2020年挑战”即将开启

  日前，人类基因变异组计划宣布他们将发起一项名为“全球球蛋白2020年挑战”（GG2020）的新型国际计划，旨在解决人类的遗传性血液障碍，研究者们已经在近日在马来西亚吉隆坡举办的人类基因组大会上宣布了这项研究计划。

  GG2020将会提供人类基因组学研究的最新进展，尤其是系统性地收集及共享遗传突变数据，从而为开发治疗名为溶血性贫血(Hemolytic anemias)的血液障碍的疗法提供一定的帮助；这项计划将会建立一个数据库来对局部疗法、护理进行有效管理，从而达到最终治疗疾病的目的。

  GG2020计划的主要目标就是在低等收入和中等收入国家帮助发展基因组药物的技术和一系列专业知识，人类基因组变异计划主席Chris Arnold说道，溶血性贫血往往是引发个体重大死亡率和发病率的主要原因，尤其是对于健康系统不是很完善的不发达国家而言，情况更为严重，而且儿童一般是受溶血性贫血症最严重的群体；目前解析溶血性贫血发生的遗传性和生物学发病机体的知识已经被阐明，而且有些国家已经开始采取一定的措施来有效降低该疾病带来的负担，但对于低收入和中等收入的国家而言却还并不清楚如何有效应对溶血性贫血的发生。

  来自墨尔本大学的研究者Helen Robinson指出，目前我们正在加大致力于系统性收集突变数据的频率，而这项工作在大部分的发达国家也正在进行中，而且这些国家目前已经有一些诊断和检测手段了；然而一些疾病负担最严重的低收入及中等收入的国家或许会被落在后边而不能及时或许信息，因此一旦获取突变的数据就需要存储起来以便可以在全球进行共享，尤其可以帮助那些低收入及中等收入的国家。

  GG2020将由马来西亚的研究者Zilfalil bin Alwi及南非的研究者Raj Ramesar共同领导开展，他们都是人类基因变异组计划委员会的成员。（转化医学网360zhyx.com）

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The Human Variome Project today announced that it has launched a new international initiative called the Global Globin 2020 Challenge (GG2020) to address genetic blood disorders. The announcement came at the Human Genome Organisation meeting inKuala Lumpur, Malaysia.

GG2020 will apply recent developments in human genomics, especially the systematic collection and sharing of data on genetic variation, to the treatment of blood disorders known as hemolytic anemias. The project plans to build a base of evidence for the better management and local delivery of treatment, care, and eventually cures for the diseases, the organization said in a statement.

A major goal of the project is to develop skills and expertise in genomic medicine in low- and middle-income countries.

"The hemolytic anemias collectively are cause for significant morbidity and mortality, especially in parts of the world where health systems are often less well-developed," Human Variome Project International Chairman Chris Arnold said in a statement, adding children are the most severely affected. While knowledge about the genetics and biology of hemolytic anemias have existed and been used in some countries for some time to reduce the burden of disease, "low- and middle-income countries have remained practically untouched by this knowledge and [these] innovations," he said.

Helen Robinson, of the University of Melbourne added, "Commitment to systematic variant data collection is increasing, but this is occurring mostly in high-income countries where much of the diagnosis and testing takes place. There is a risk that countries where the burden of these diseases is highest — low- and middle-income countries — are being left behind in a form of 'genomic divide.' The capacity to generate quality data on variants, [and] to store it so that it can be shared internationally, needs to be built in these countries."

GG2020 will be lead by geneticists Zilfalil bin Alwi of Malaysia and Raj Ramesar of South Africa, who are both members of the Human Variome Project Board.