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At least 19 recordsLinked to original sources
PubMed2026

Genetic Research on Cardiac Channelopathies in African and African-Descent Populations: A Scoping Review.

Cardiac channelopathies are inherited arrhythmias that can lead to sudden cardiac death. Despite Africa's extensive genomic diversity, African and African-descent populations remain underrepresented in genetic research, creating gaps in variant interpretation and clinical care. This scoping review aims to map the extent, range, and nature of genetic research on cardiac channelopathies in these populations and to identify key geographic, thematic, and methodological gaps. Using the Joanna Briggs Institute scoping review methodology and the Population-Concept-Context framework, systematic searches in PubMed, Embase, and Web of Science identified original human studies on cardiac channelopathies with genetic data. Extracted variables included study characteristics, populations, types of channelopathies, and reported genes and variants. Forty-four studies met the inclusion criteria. Most studies originated from the United States and South Africa, while West, Central, and East Africa were largely underrepresented. US Black individuals and South African individuals of continental African or African-descended ancestry (excluding populations of European descent such as Cape Afrikaner people) were the most studied groups, with other continental African groups rarely included. Long QT syndrome was the predominant focus, and SCN5A, KCNQ1, and KCNH2 were the most frequently analyzed genes. Many of the genetic variants discussed remained of uncertain significance due to limited functional validation and the underrepresentation of African genomes in reference databases. Genetic research on cardiac channelopathies in populations of African ancestry is limited, restricting variant interpretation, counseling, and risk prediction. Broader African inclusion, expanded gene screening, and functional studies are essential to improve diagnostics and promote equity in genomic medicine.

Humans↗
PubMed2026

Optimizing Control Definitions in Opioid Use Disorder Genetic Research Using Electronic Health Records.

Amidst the opioid crisis, understanding the genetic basis of opioid use disorder (OUD) is crucial for identifying biological mechanisms and intervention points. However, genome-wide association studies (GWASs) have been hampered by inadequate sample sizes and often the use of control populations not assessed for prior opioid exposure. Because opioid exposure is a prerequisite for the development of OUD, consideration of exposure history in controls is important. Electronic health record data (EHR) paired with genomic information allow a broader sampling of patients with OUD and exposed controls. We leveraged data across two healthcare systems to evaluate the impact of using controls not screened for opioid exposure ('generic') versus minimally opioid-exposed control ('exposed'). First, at the phenotypic level, we conducted phenome-wide association studies (PheWAS) to compare the medical comorbidity profiles of OUD cases when using generic versus exposed controls. While PheWAS results for OUD-related comorbidities were more pronounced when using the generic group, 83% of the disease associations were overlapping and of similar effect sizes. Second, at the genetic level, we conducted GWAS (cases vs. generic; cases vs. exposed) and assessed differences in genetic correlations and degrees of phenotypic misclassification. Genetic results were concordant across control groups based on heritability (generic: 0.16 ± 0.07 vs. 0.10 ± 0.07), associations with the coding OPRM1 variant rs1799971 (pgeneric = 8.83E-03 vs. pexposed = 1.83E-02) and genetic correlations with prior OUD GWAS (rg-generic = 0.83 ± 0.26 vs. rg-exposed = 0.78 ± 0.27). Although GWASs were limited by sample size (Ngeneric = 6269, Nexposed = 6365), compared to an independent OUD GWAS (N = 425 944), the dilution value for the two GWAS was not different from 1, suggesting no major impact of phenotypic misclassification. This study represents the first effort to enhance OUD genetic research through optimization of control definitions using EHR data. Generic controls ascertained within the US health systems, where exposure to prescription opioids is high, offer a practical alternative for genetic studies of OUD.

Humans↗
PubMed2026

A workshop considering genetic research and data collection with American Indian and Alaska Native people outside of Tribal jurisdiction.

INTRODUCTION: In the United States (US), Tribes are sovereign nations and have the right to oversee research conducted with Tribal citizens. However, it is unclear who should approve research protocols when data from American Indian and Alaska Native (AIAN) people are collected off Tribal lands. As genetic research continues to advance and transform the delivery of healthcare, equitable inclusion of AIAN people is necessary, but oversight of research needs clarity. METHODS: We held a 3-day workshop with US thought leaders on genetic and other health research with AIAN people in urban areas to explore views and values on this issue and to discuss potential policy and practice solutions. RESULTS: Thirty-six individuals attended. Solidarity surfaced as a foundational motivation for Tribal Nations to review research conducted with AIAN people, whether on Tribal lands or not. Understanding data from Indigenous perspectives was identified as a way to ensure appropriate AIAN community protections are in place. Three discrete areas to improve policy were suggested-Tribal, Academic Institution, and National-to protect AIAN people participating in research both on and off Tribal lands. DISCUSSION: Researchers, whether Indigenous or not, must recognize Tribal sovereignty and operate in solidarity with the applicable and most appropriate ethical principles and regulations.

Alaska Native↗
PubMed2026

Beyond Earth: Recent Advancements in Microgravity Biomedical and Genetic Research in Saudi Arabia.

Microgravity research has emerged as a rapidly evolving field at the intersection of space medicine, genomics, biotechnology, and precision medicine. Exposure to the space environment induces complex physiological and molecular adaptations that affect multiple biological systems, including immune regulation, metabolism, musculoskeletal function, and gene expression. Recent advances in genomics, multi-omics technologies, artificial intelligence, and bioengineering have substantially improved our understanding of biological adaptation to spaceflight and expanded opportunities for translational biomedical research. This review summarizes recent advances in genetic and biomedical research under microgravity conditions, with particular emphasis on molecular mechanisms, omics technologies, genome editing, microbiome research, regenerative medicine, and personalized healthcare approaches. Major experimental platforms, landmark spaceflight studies, and translational applications in infectious diseases, cancer biology, aging, tissue engineering, and pharmaceutical development are discussed. The review also highlights Saudi Arabia's emerging contributions to genomic medicine and space biosciences through initiatives such as the Saudi Human Genome Program, the Saudi Pangenome Project, the Saudi Space Agency, and the BioGravity Initiative. Recent Saudi participation in human spaceflight and microgravity-associated biomedical research is discussed within the context of Vision 2030 and national investments in biotechnology and precision medicine. Collectively, advances in microgravity research are expected to contribute to the advancement of precision medicine and facilitate the development of innovative diagnostic and therapeutic strategies with significant implications for both human space exploration and terrestrial healthcare.

Humans↗
PubMed2026

PD GENEration: An International Parkinson's Disease Genetic Research Study.

BACKGROUND: PD GENEration (NCT04057794, NCT04994015), sponsored by the Parkinson's Foundation in partnership with Aligning Science Across Parkinson's (ASAP) through the Global Parkinson's Genetics Program (GP2), is an international, observational, clinical research study that offers genetic testing and counseling to people living with Parkinson's disease (PwP) at no financial cost. PD GENEration has aimed to empower PwP and their clinicians with knowledge of their genetic status, to accelerate recruitment into precision medicine trials, and to advance research through data sharing. Since its launch in 2019, the study has expanded to enroll over 32,000 PwP (as of March 31, 2026), from 10 countries across North, Central, and South America, the Caribbean, and Israel. METHODS: Over the course of 6 years, PD GENEration has evolved to accommodate the growing scientific and research needs of the Parkinson's community while also increasing the ability to return genetic test results to PwP at a greater scale. Participants with a diagnosis of Parkinson's disease (PD) may enroll in-person or virtually where informed consent and blood sample collection can occur. Samples are analyzed at a College of American Pathologists/Clinical Laboratory Improvement Amendments (CAP/CLIA)-certified laboratory using whole genome sequencing, with variants curated for a primary panel of seven PD-associated genes. Results are disclosed during a genetic counseling visit, where further testing is offered for two optional additional gene panels. Those who consent undergo analysis of additional genes, and results are returned during a genetic counseling visit for those that test positive for a variant. In addition to returning genetic results to PwP, a central pillar of the study design has been the open sharing of genomic data to advance discovery in PD research in partnership with ASAP and GP2. DISCUSSION: PD GENEration applies a flexible framework, allowing for country specific considerations and the integration of multiple site models, evolving based on participant needs and the prioritization of equity and accessibility. We summarize PD GENEration's implementation and scaling, highlight key accomplishments and lessons learned, and provide guidance for those interested in implementing large-scale clinical genetic testing studies across other diseases and therapeutic domains.

Parkinson’s disease↗
PubMed2026

RAREsim2: flexible simulation of rare variant genetic data using real haplotypes.

MOTIVATION: Realistic simulated data is critical for advancing methodological development and optimizing study design in genetics research. However, many genetic simulation tools are unable to replicate the distribution of rare variants or incorporate key genetic information, such as functional annotations and linkage disequilibrium. RAREsim, an accurate rare variant simulation algorithm that uses real genetic haplotypes, was developed to address these limitations. Here, we introduce RAREsim2, an update that provides both streamlined software and new functionalities for simulating individual-level differences (e.g., case-control status, technological or batch effects) and variant-level differences to represent a variety of causal models. RESULTS: We demonstrate RAREsim2's utility with three rare variant association methods (Burden, SKAT, and SKAT-O) across several simulation scenarios, including various genetic ancestries, gene sizes, strengths of association, and proportions of risk variants. Type I Error was maintained and the test with the highest power matched previously known patterns. Importantly, real genetic regions can be simulated to include known variant functions and disease associations. Ultimately, RAREsim2 offers additional flexibility and ease in simulating a multitude of realistic genetic scenarios. AVAILABILITY AND IMPLEMENTATION: The RAREsim2 Python package is publicly available on Github (https://github.com/Hendricks-Research-Team/RAREsim2), PyPI (https://pypi.org/project/raresim/), and Zenodo (https://doi.org/10.5281/zenodo.19442523). Code for the example demonstration can be found at https://github.com/JessMurphy/RAREsim2-demo.

Software↗
PubMed2026

Genome assembly and subgenomic interactions in Brassica napus additional lines with an alien B05 chromosome from B. juncea.

Alien chromosome addition lines hold significant value for breeding and genetic research. However, the genetic interaction between the recipient genome(s) and the alien chromosomes remain largely unclear. Here, we analyzed the genomic composition and gene expression of two purple-leaved B. napus alien addition lines carrying chromosome B05 from B. juncea: the monosomic line ZYCB3 (MAAL, 2n = 39, AACC + 1B05) and the disomic line ZY52 (DAAL, 2n = 40, AACC + 2B05). We assembled a chromosome-level genome of the DAAL ZY52 disomic line and characterized its genomic variation and chromosome introgression patterns. In addition to chromosome B05, multiple introgressed fragments derived from the donor B. juncea line ZYJC were identified, revealing extensive genome remodeling during distant hybridization and backcross breeding. We then used multi-omics approaches to explore chromosomal interactions and the regulation of anthocyanin biosynthesis. Notably, the addition of chromosome B05 was associated with stronger repression of homoeologous genes on C-subgenome chromosomes than on A-subgenome chromosomes. In ZY52, homoeologous genes on chromosome C01 showed reduced expression, whereas in the ZYCB3 monosomic line reduced expression was observed on both C01 and C02. Comparative transcriptomic and metabolomic analyses further showed that highly expressed anthocyanin biosynthesis genes (ABGs) on chromosome B05contributed to anthocyanin accumulation and the purple-leaf phenotype in both addition lines. Overall, this study provides new insights into interchromosomal interactions, genome remodeling, and phenotypic variation in alien addition lines.

Journal Article↗
PubMed2026

Scaling up orphan crop research: genebank genetics highlight geographic structure in cultivated cowpea from 10 617 global accessions.

Vigna unguiculata (L.) Walp. is a dryland legume crop, providing essential food and nutritional security for millions of people across the semi-arid tropics, in Africa, Asia and Latin America. However, as a typical 'orphan crop', cowpea has long remained underrepresented in global genomic research to support crop improvement. Here, we conducted the largest genetic diversity analysis of cowpea to date, comprising 10 617 accessions sourced from seven international collections. Using genotyping-by-sequencing, we characterised the global patterns of genetic diversity, assessed redundancy within and across collections, and examined the geographic structure of the cowpea global allele pool. Our results revealed nine distinct genetic groups with clear geographic associations and fine-scale population differentiation, reflecting dispersal history, regional adaptation and the influence of modern breeding. Duplication across collections was detected, highlighting the need for improved curation and integration of germplasm resources. Landraces from sub-Saharan Africa do not fully capture the genetic diversity present in several other geographic regions, indicating the existence of abundant and untapped genetic resources worldwide. These findings not only provide insights into the genetic structure and evolutionary history of cowpea but also offer a valuable foundation for harnessing global germplasm diversity to enhance breeding potential and accelerate crop improvement.

Vigna↗
PubMed2026

Research note: Genetic background influences the relationship between age at first egg and long-term egg production in layers.

Age at first egg (AFE) is a key selection criterion in layers breeding. With the laying cycle being extended to 100 weeks, the relationship between AFE and long-term productivity and egg quality should be evaluated to ensure that selection for AFE aligns with current breeding objectives. In this study, Beijing-You chickens and White Leghorns were used to generate purebreds and crossbreds. Egg-laying performance was recorded including AFE, egg number and cumulative egg number at different stages from onset till 100 weeks, and egg quality traits at 32, 54, 72, 86, and 100 weeks. Genetic correlations were estimated, both in the combined population of purebreds and crossbreds and within each genetic group. In the combined population, a positive genetic correlation was observed between AFE and cumulative egg number till 100 weeks. Age-dependent genetic correlations between egg number at different stages and AFE further revealed that extremely early-maturing hens showed initial production advantages, but these advantages diminished at later stages. Importantly, the genetic and phenotypic correlations between AFE and egg quality traits were weak, with correlation coefficients ranging from -0.18 to 0.35. Within each genetic group, the relationships between AFE and egg production also showed consistent age-dependent patterns. For the long-term production targets, optimal AFE seems to differ by genetic backgrounds. White Leghorns showed higher egg production with earlier maturity, whereas in Beijing-You chickens, maintaining AFE at approximately 140-189 days appeared to be more favorable. Overall, these findings demonstrated that earlier AFE does not ensure higher egg production at extended laying cycles and has negligible influence on egg quality, highlighting the importance of optimizing AFE according to genetic background.

Age at first egg↗
PubMed1979

A review of research on genetic variation in physiological characteristics related to performance in dairy cattle.

Genetic influence on physiological characteristics ranges from single gene effects on amino acid substitutions in alternative forms of proteins to quantitative genetic effects on the amounts of enzymes and hormones. The number of loci involved in the control of quantitative variation in physiologically important substances is not known. A number of marker genes that affect blood antigens, serum and milk proteins, and enzymes have been identified in dairy cattle. However, relatively little is known about genetic effects on quantitative physiological traits in dairy cattle. Much more is known about the genetic control of hormones in laboratory animals. About 25% of the variation in milk production of dairy cows results from genetic differences. We need more studies of genetic influences on the various physiological and biochemical processes involved in the secretion of milk to reveal the mechanisms by which genetics influences the quantity and quality of milk produced by individual cows.

Animals↗