Evidence map›Paper›PMID 39671061›Full record

ReviewJournal of community genetics2025

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

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

Abstract readReview
In one paragraph

Review in Journal of community genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Graziella RodriguesCasa dos Raros, R. São Manoel, 730 - Santa Cecília, Porto Alegre, RS, Brazil.
Edina PolettoStanford University, Stanford, CA, USA.
Filippo Pinto E VairoMayo Clinic, Rochester, MN, USA.
Guilherme BaldoCasa dos Raros, R. São Manoel, 730 - Santa Cecília, Porto Alegre, RS, Brazil. Guilherme.baldo@cdr.org.br.

Funding

Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul 22/2551-0000385-0
6 · The paper itself

Abstract

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.

Indexed as

DiagnosisLow-income countriesRare diseasesTherapy

Identifiers

PMID39671061
PMCPMC12321695

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.