中低收入国家罕见疾病的基础研究和转化研究：挑战与解决方案。

IF 1.5 Q4 GENETICS & HEREDITY

Journal of Community Genetics Pub Date : 2024-12-13 DOI:10.1007/s12687-024-00759-y

Graziella Rodrigues, Edina Poletto, Filippo Pinto E Vairo, Guilherme Baldo

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引用次数: 0

摘要

在本文中，我们讨论了低收入和中等收入国家（LMICs）研究人员面临的主要困难，并提出了可能的解决方案。面临的挑战包括罕见疾病专家缺乏、供应成本较高、资金不足以及患者倡导团体有限。在患者倡导团体、政府、调查人员和其他利益攸关方之间建立合作，制定行动计划，可以解决其中许多问题，并促进对罕见病的研究。

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Basic and translational research in rare diseases in low- and middle-income countries: challenges and solutions.

In this document, we discuss the main difficulties faced by investigators in low- and middle-income countries (LMICs) and propose potential solutions. Challenges include the scarcity of experts in rare disorders, higher costs of supplies, underfunding, and limited patient advocacy groups. Establishing collaborations among patient advocacy groups, governments, investigators, and other stakeholders to create action plans can address many of these issues and promote research into rare diseases.

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来源期刊

Journal of Community Genetics GENETICS & HEREDITY-

CiteScore

3.30

自引率

5.30%

发文量

期刊介绍： The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.