Reforms to improve reproducibility and quality must be coordinated across the research ecosystem: the view from the UKRN Local Network Leads

Many disciplines are facing a “reproducibility crisis”, which has precipitated much discussion about how to improve research integrity, reproducibility, and transparency. A unified effort across all sectors, levels, and stages of the research ecosystem is needed to coordinate goals and reforms that focus on open and transparent research practices. Promoting a more positive incentive culture for all ecosystem members is also paramount. In this commentary, we—the Local Network Leads of the UK Reproducibility Network—outline our response to the UK House of Commons Science and Technology Committee’s inquiry on research integrity and reproducibility. We argue that coordinated change is needed to create (1) a positive research culture, (2) a unified stance on improving research quality, (3) common foundations for open and transparent research practice, and (4) the routinisation of this practice. For each of these areas, we outline the roles that individuals, institutions, funders, publishers, and Government can play in shaping the research ecosystem. Working together, these constituent members must also partner with sectoral and coordinating organisations to produce effective and long-lasting reforms that are fit-for-purpose and future-proof. These efforts will strengthen research quality and create research capable of generating far-reaching applications with a sustained impact on society

Frequency of the HFE C282Y and H63D polymorphisms in Brazilian malaria patients and blood donors from the Amazon region

Malaria is an endemic parasitosis and its causitive agent, Plasmodium, has a metabolism linked to iron supply. HFE is a gene with the polymorphisms C282Y and H63D, which are associated with a progressive iron accumulation in the organism leading to a disease called hereditary hemochromatosis. The aim of the present study was to determine the allelic and genotypic frequencies of the HFE gene polymorphisms in malaria patients and blood donors from the Brazilian Amazon region. We screened 400 blood donors and 400 malaria patients for the HFE C282Y and H63D polymorphisms from four states of the Brazilian Amazon region by polymerase chain reaction and restriction fragment length polymorphism analysis. We did not find any C282Y homozygous individuals, and the only five heterozygous individuals detected were from Pará State. The most frequent genotype in the North region of Brazil was the H63D heterozygote, in both study groups. Our results contribute to the concept that the Brazilian Amazon region should not be regarded as a single entity in South America. These polymorphisms did not influence the symptoms of malaria in the population studied, as neither severe signs nor high parasitemia were observed. Therefore, different hereditary hemochromatosis diagnostic and control measures must be developed and applied within its diverse locations. Investigations are currently being carried out in our laboratory in order to determine the importance of the coexistence of hereditary hemochromatosis in patients affected by parasitic diseases, such as malaria. ©FUNPEC-RP

Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil

We describe a heterozygous case of Hb I-Philadelphia [alpha 16 (A14) LYS-->GLU] in a blood donor from the Acre State Blood Bank, in the Brazilian Amazon region. We confirmed the mutation by electrophoretic and chromatographic methods and by DNA sequencing. A literature search showed that this is the first description of this alpha globin mutant in a Brazilian Caucasian group. We also emphasize the importance of the hemoglobin study in blood donors for the purpose of the genetic counseling and quality assurance of the blood to be transfused. Screening tests for hemoglobin mutants are also important for gathering anthropological information about the Brazilian population