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Record W7117318193 · doi:10.1080/23995270.2025.2607961

The plight of rare diseases in Southern Africa: health and social services policy recommendations

2025· article· en· W7117318193 on OpenAlexaff
Aneth David, Mohamed Zahir Alimohamed, Grantina Modern, Sharifa Mbarak, Husna Mad-hy, B. Ozcan, Nomsa Mtshali, Hlumela Tshijila, Kelly du Plessis, Eda Selebatso, Matshediso Letsholo, Nthabeleng Ramoeli, Trudy Nyakambangwe, Reon Van Der Merwe, Vivian Joseph, Farhan Yusuf, Maximilian Godwin Kilipamwambu, Kilaza Samson Mwaikono, Siana Nkya

Bibliographic record

VenueFuture Rare Diseases · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsAga Khan Foundation
Fundersnot available
KeywordsSocial WelfareHealth servicesSocial policyGovernment (linguistics)Health policyPublic health

Abstract

fetched live from OpenAlex

Rare diseases impact approximately 300 million people globally, yet they receive minimal attention compared to infectious and non-communicable diseases. There are over 10,000 known rare diseases, most of which being hereditary and primarily affecting children. In sub-Saharan Africa (SSA), weak public health infrastructure exacerbates the challenges of diagnosis, management, and treatment of rare diseases. Further, the absence of a definition of rare diseases in the region and the lack of and/or unclear policy frameworks to manage the conditions further slow down the progress toward realization of universal healthcare and the Sustainable Development Goals. We propose harmonized policy recommendations for tackling rare diseases across the Southern African Development Community (SADC). These include establishing a common definition, centralizing healthcare services, promoting preventive measures, enhancing collaborative research and building healthcare workers’ capacity. We also recommend the adoption of shared cost models and specialized health insurance to ensure access to necessary services for those living with rare diseases. This is a starting point to discuss policy issues on healthcare and social services necessary for improving the quality of life of people living with rare diseases (PLRDs) in SSA. Harmonization will also promote effective utilization of resources for both research and care of rare diseases.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.539
Threshold uncertainty score0.491

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.005
GPT teacher head0.256
Teacher spread0.251 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2025
Admission routes1
Has abstractyes

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