Evidence map›Paper›PMID 40793993›Full record

ArticleJournal of evaluation in clinical practice2025

Enhancing Rare Disease Awareness and Education Among Medical Professionals and Students in Türkiye.

Öznur Karagöz, Buşranur Tırtır, Dilek Güneş, Özge Özgen, Mustafa Özçetin, Gülbin Gökçay, Gülden F Gökçay, Abdolrahman S Nateri, Fatmahan Atalar

Abstract read
In one paragraph

Article in Journal of evaluation in clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Achalasia: Physician Practices and Knowledge in Türkiye.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2026
    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

9 authors.

Öznur KaragözDepartment of Family Health, Child Health Institute, Istanbul University, Istanbul, Türkiye.
Buşranur TırtırInstitute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Türkiye.
Dilek GüneşInstitute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Türkiye.
Özge ÖzgenRare Diseases Research Laboratory, Istanbul Medical School, Istanbul University, Istanbul, Türkiye.
Mustafa ÖzçetinDepartment of Family Health, Child Health Institute, Istanbul University, Istanbul, Türkiye.
Gülbin GökçayDepartment of Social Pediatrics, Child Health Institute, Istanbul University, Istanbul, Türkiye.
Gülden F GökçayRare Diseases Research Laboratory, Istanbul Medical School, Istanbul University, Istanbul, Türkiye.
Abdolrahman S NateriSchool of Medicine, Cancer Genetics & Stem Cell Group, BioDiscovery Institute, Academic Unit of Translational Medical Sciences, Nottingham, UK.ORCID 0000-0002-6422-6813
Fatmahan AtalarDepartment of Family Health, Child Health Institute, Istanbul University, Istanbul, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeRare diseases (RDs), which are often chronic, degenerative, and life-threatening conditions, pose significant challenges due to their complexity and limited awareness among healthcare professionals. This study assessed the knowledge, awareness, and educational needs related to RDs among 5th- and 6th-year medical students at Atatürk University, Başkent University, and Istanbul University, as well as pediatric and non-pediatric specialists in Türkiye, with a focus on differences between these groups. MATERIALS AND

methodsA total of 258 physicians and 132 medical students participated. Data were collected through surveys examining demographics, self-assessed knowledge, awareness, and perceptions of RD-related education. Statistical analyses evaluated differences in knowledge and awareness across the groups.

resultsPediatric specialists reported significantly higher self-assessed RD knowledge than non-pediatric specialists. However, both groups showed notable gaps in awareness, particularly concerning RD prevalence and diagnostic timelines in Türkiye. Most participants expressed interst in further education but were unaware of available resources. Among students, 65.9% rated their RD knowledge as 'Poor' or 'Very Poor,' with no significant differences observed across institutions despite curriculum variations.

conclusionThe findings highlight a critical lack of competence in RD-related knowledge among healthcare professionals, especially non-pediatric specialists. To address this gap, we recommend integrating integrating RD-specific into medical curricula, promoting continuous professional development through specialized training events, and enhancing the visibility of reliable RD information sources. These measures are crucial for improving early diagnosis and management of RDs, ultimately enhancing patient care and outcomes in Türkiye.

Indexed as

Health Knowledge, Attitudes, PracticeRare DiseasesStudents, MedicalAdultAwarenessClinical CompetenceCurriculumFemaleHealth PersonnelHumansMaleSurveys and QuestionnairesTurkeycliniciansinformation needsmedical curriculummedical educationrare diseasessurvey

Identifiers

PMID40793993
PMCPMC12341651

What OpenQuestion holds

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Registered trials

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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.