相关实验视频

Updated: Jul 5, 2025

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies

Published on: July 29, 2007

制定一个社区主导的罕见病ELSI研究议程

Courtney Berrios^1,2, Macy McBeth³, Andrea Bradley-Ewing⁴

¹Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA. cdberrios@cmh.edu.

Orphanet journal of rare diseases

|January 23, 2024

概括

社区的利益相关者共同创建了一个儿科罕见病研究议程. 这种以患者为中心的方法优先考虑基于生活经验的伦理,法律和社会影响 (ELSI) 研究,确保与家庭需求保持一致.

科学领域:

儿科罕见病研究儿科罕见病研究
参与社区研究的研究.
伦理,法律和社会影响 (ELSI) 研究研究.

背景情况:

社区参与对于确定研究优先事项至关重要,特别是在罕见疾病方面.
一个儿科罕见病社区利益相关者小组成立,以引起家庭的观点.
目标是将想法综合到一个研究议程中,专注于共同的ELSI关注点.

研究的目的:

建立一个儿科罕见病社区利益相关者小组.
让这个群体有能力从受影响的家庭中提取和合成观点.
制定一个研究议程,重点关注跨罕见疾病的共享ELSI.

主要方法:

一个为期两年的以社区为中心的方法涉及罕见病社区成员作为平等的合作伙伴.
成立了一个由患者,家长,临床医生和研究人员组成的22名利益相关者团体"Rare Voices" (RV).
在能力建设培训后,RV与患者和家长进行了倾听会议,综合了研究结果,并优先考虑了研究主题.

主要成果:

在14次听力会上,52名家长和13名青少年患者参与了听力会.
确定了八个核心研究主题:护理协调,沟通,资源获取,家庭影响,社区支持,心理健康,伦理方面和不确定性.
RV成员报告说,他们对这个过程和由此产生的研究议程有很高的参与度和满意度.

结论:

通过能力建设和真诚的参与,制定了社区主导的罕见病研究议程.
该议程与未来罕见病ELSI研究的患者和家庭优先事项保持一致.
平等伙伴关系促进了相互学习,并赋予社区成员以基于生活经验来塑造研究的权力.

关键词:

社区的参与社区的参与埃尔西·埃尔西是什么意思罕见疾病是一种罕见的疾病.研究议程研究议程

更多相关视频

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting

Published on: June 6, 2020

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

相关概念视频

EPS and iPS Cells in Disease Research

EPS and iPS Cells in Disease Research

Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...

Lysosomal Hydrolases

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...