VSOP, 3528 BO Utrecht, The Netherlands.
Kentalis International Foundation, 2716 NR Zoetermeer, The Netherlands.
Genes (Basel). 2024 Sep 3;15(9):1162. doi: 10.3390/genes15091162.
In 2023, the genetics scientific community celebrated two special anniversaries: the discovery of the double helix structure of DNA was published in 1953 and in 2003 the Human Genome Project was declared completed and made publicly available. To this day, genetics and genomics research is continuing to evolve at high pace and is identifying a steadily increasing number of genes as causal for distinct genetic diseases. The success story of genetics and genomics would not be complete without taking due account of the role of patient advocacy organizations in this process. This paper is based on the personal narrative (oral history) of a father whose daughter was born with a rare genetic disease (RGD) in the 1960s. The first-hand experience of living as a family with an RGD in those days made him a leading pioneer not only in the foundation of patient organizations at national, pan-European, and international levels but also in the development of multi-stakeholder co-operation and networking. Today, patient advocacy organizations play an active role in shaping health and research policies at national, EU, and international levels to ensure that their needs in regard to advancing RGD diagnostics, care, and treatment are addressed.
在 2023 年，遗传学科学界庆祝了两个特殊的周年纪念日：1953 年发表了 DNA 双螺旋结构的发现，2003 年人类基因组计划宣布完成并公开发布。时至今日，遗传学和基因组学研究仍在高速发展，不断发现越来越多的基因是导致特定遗传疾病的原因。如果不考虑患者倡导组织在这一过程中的作用，遗传学和基因组学的成功故事就不完整。本文基于一位父亲的个人叙述（口述历史），他的女儿在 20 世纪 60 年代出生时患有罕见的遗传疾病（RGD）。作为一个有 RGD 孩子的家庭，他在那个时代的第一手经验使他不仅成为国家、泛欧和国际层面上患者组织的主要先驱，而且还成为多方利益相关者合作和网络发展的先驱。如今，患者倡导组织在制定国家、欧盟和国际层面的健康和研究政策方面发挥着积极作用，以确保他们在推进 RGD 诊断、护理和治疗方面的需求得到满足。
