ArticleGenetics and molecular biology2019
Population medical genetics: translating science to the community.
Article in Genetics and molecular biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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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.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Report of Mucopolysaccharidosis Type VI Disorder in Pakistani Patients Presenting Two Novel ARSB Variants.Biochemical genetics · 2026Article
- Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges.Journal of community genetics · 2025Review
- Newborn screening in Brazil: realities and challenges.Journal of community genetics · 2025Review
- Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil.Journal of community genetics · 2025Article
- The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).Journal of community genetics · 2024Article
- Training of community health agents - a strategy for earlier recognition of mucopolysaccharidoses.Journal of community genetics · 2024Article
- Clusters of rare disorders and congenital anomalies in South America.Revista panamericana de salud publica = Pan American journal of public health · 2023Review
- Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report.Journal of medical case reports · 2022Article
- Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.International journal of neonatal screening · 2020Review
- A large family with CYLD cutaneous syndrome: medical genetics at the community level.Journal of community genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as "population medical genetics", which integrates medical genetics, population genetics, epidemiological genetics and community genetics. In order to develop practical activities in this new discipline, the National Institute of Population Medical Genetics (INaGeMP) was created in 2008 in Brazil. INaGeMP has developed several tools and funded numerous research activities. In this review, we highlight three successful projects developed in the first 10 years of INaGeMP activities (2008-2018): a newborn screening pilot study for MPS VI in Northeast Brazil, the study of Machado-Joseph disease in Brazilian families with Azorian ancestry, and the high twinning rate in a small town in southern Brazil. The results of these projects in terms of scientific output and contributions to the affected communities highlight the success and importance of INaGeMP.
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What OpenQuestion holds
Registered trials
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.