SYNLAB Medical Innovation Awards 2024

The last update in 2024 showcases this year’s winners and runners-up of the prestigious SYNLAB Medical Innovation Awards: a collection of ten inspiring research articles in the field of medical diagnostics. The four winning articles, recognised for their exceptional contributions to medical innovation, cover a diverse range of topics including histopathological staining techniques, single-cell analysis in early embryo development, prognostic biomarkers for paediatric B-cell acute lymphoblastic leukaemia (B-ALL), and the role of reference intervals in clinical chemistry.

Jeyrroy Gabriel and colleagues introduce Haematoxylin X, a novel haematoxylin dye utilising a chromium-based mordant, demonstrating its superior performance in histopathological staining compared to traditional dyes. Xavier Vendrell and colleagues present a pioneering single-cell transcriptomic analysis of human androgenotes, providing unprecedented insights into paternal gene expression dynamics during early embryo development. Filomena Altieri et al. identify circWASHC2A, a circular RNA isoform of WASHC2A, as a promising prognostic factor for high-risk paediatric B-ALL patients. Finally, Nathan Timbrell provides a comprehensive review of reference intervals (RIs) in clinical chemistry, highlighting their significance, limitations, and potential for improvement.

In addition to these award-winning articles, this update includes summaries of six noteworthy runner-up articles that explore critical advancements in various medical disciplines, further enriching the understanding of key diagnostic and therapeutic approaches. These articles examine topics such as the epidemiology of non-tuberculous mycobacteria in Germany, the development of a rapid metagenomic method for microorganism detection, strategies for improving newborn screening for isovaleric acidemia, the influence of breast cancer extracellular vesicles on lung cells and immune cell activation, and a rare chromosomal deletion syndrome.

SYNLAB Medical Innovation Awards 2024: WINNERS

Technical Implementation

Evaluation of a New Mordant Based Haematoxylin Dye (Haematoxylin X) for Use in Clinical Pathology. Br J Biomed Sci 2023; 80:11591. Gabriel JA, D'Amico C, Kosgodage U et al.

Link to full article: http://www.ncbi.nlm.nih.gov/pubmed/?term=37818105

The development of Haematoxylin X represents a groundbreaking advancement in histopathological staining, introducing a chromium-based mordant (Chromium Sulphate) as a novel alternative to traditional alum-based haematoxylins. This study rigorously evaluates its performance against established dyes—Carazzi’s, Harris’, and Mayer’s—across diverse applications, including FFPE tissue, immunohistochemical counterstaining, and frozen sections. By employing stringent UKNEQAS Cellular Pathology criteria, the analysis highlights Haematoxylin X’s superior sensitivity and specificity in frozen tissue staining, along with its comparable efficacy in FFPE contexts. These findings underscore its potential to enhance diagnostic accuracy and staining versatility in clinical pathology.

Women’s Health

Longitudinal profiling of human androgenotes through single-cell analysis unveils paternal gene expression dynamics in early embryo development. Hum Reprod 2024; Vendrell X, de Castro P, Escrich L et al.

Link to full article: http://www.ncbi.nlm.nih.gov/pubmed/?term=38622061

The study presents a pioneering analysis of single-cell transcriptomic profiles in haploid human androgenotes, providing unparalleled insights into paternal gene contributions during early embryonic development. By investigating dynamic gene expression across the first four cell cycles, this research highlights critical paternal influences on processes such as zygote genome activation, cell differentiation, and RNA biosynthesis. The findings, which emphasise key transcriptomic distinctions from biparental embryos, lay a robust foundation for understanding paternal genomic roles in human developmental biology. These results have broad implications for advancing reproductive technologies and embryological research.

Oncology

Identification of a circular RNA isoform of WASHC2A as a prognostic factor for high-risk paediatric B-ALL patients. Biomed Pharmacother 2024; 177:116903. Altieri F, Smaldone G, Sarnacchiaro G et al.

Link to full article: http://www.ncbi.nlm.nih.gov/pubmed/?term=38917755

The comprehensive characterisation of circRNA dynamics in paediatric B-cell acute lymphoblastic leukaemia (B-ALL) presented in this study identifies a novel circular RNA, circWASHC2A, as a pivotal biomarker for risk stratification and relapse prediction. Leveraging advanced transcriptomic analyses, the research elucidates the differential expression of circWASHC2A in high-risk versus standard-risk patients, highlighting its potential as a prognostic indicator. Functional studies further reveal its role in regulating leukaemic cell cycle progression and mitochondrial activity, providing mechanistic insights into its contribution to disease pathophysiology. These findings offer transformative implications for personalised diagnostic and therapeutic approaches in paediatric oncology.

Young Scientist

The Role and Limitations of the Reference Interval Within Clinical Chemistry and Its Reliability for Disease Detection. Br J Biomed Sci 2024; 81:12339. Timbrell NE.

Link to full article: http://www.ncbi.nlm.nih.gov/pubmed/?term=38481978

Reference intervals (RIs) are an essential tool in clinical chemistry, transforming numerical laboratory measurements into clinically meaningful information. However, their utility is often constrained by methodological limitations, variability in population characteristics, and the challenges of standardisation across laboratories. This review from Nathan Timbrell rigorously examines the historical evolution, establishment processes, and the inherent limitations of RIs, offering insights into alternative approaches like indirect methods and clinical decision limits. By addressing these challenges, the study underscores the critical need for enhanced training and methodological innovation to optimise the reliability of RIs for disease detection and patient care.

SYNLAB Medical Innovation Awards 2024: RUNNERS-UP

Technical Implementation

Development of prevalence and incidence of non-tuberculous Mycobacteria in German laboratories from 2016 to 2020. Emerg Microbes Infect 2023:2276342. Corbett C, Finger P, Heiß-Neumann M et al.

Link to full article: http://www.ncbi.nlm.nih.gov/pubmed/?term=37883336

The comprehensive analysis of non-tuberculous mycobacteria (NTM) prevalence and incidence in Germany between 2016 and 2020 offers critical insights into the epidemiology of these pathogens, emphasising their clinical and public health significance. This study systematically evaluates data from 22 laboratories, encompassing 11,430 NTM isolates, to provide robust estimates of laboratory-based prevalence and incidence. The findings reveal stable NTM detection rates over the study period, with regional variations in species distribution and an increase in drug susceptibility testing, reflecting evolving clinical guidelines. These results underscore the importance of targeted diagnostic strategies and standardised treatment protocols to address the growing burden of NTM-related diseases.

Unified metagenomic method for rapid detection of microorganisms in clinical samples. Commun Med (Lond) 2024; 4:135. Alcolea-Medina A, Alder C, Snell LB et al.

Link to full article: http://www.ncbi.nlm.nih.gov/pubmed/?term=38972920

This study introduces a unified metagenomic methodology that facilitates the rapid detection of a broad spectrum of microorganisms in clinical respiratory samples, including RNA and DNA viruses, bacteria, and fungi. Employing a novel mechanical host DNA depletion technique paired with nanopore sequencing, the method achieves high sensitivity and specificity, generating actionable diagnostic reports within a 7-hour workflow. Prospective validation demonstrates its ability to enhance pathogen detection rates, uncovering additional clinically relevant microorganisms in samples with high concordance to routine diagnostic methods. These advancements underline the potential for this innovative approach to transform microbiological diagnostics in clinical settings.

Women’s Health

Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK. Int J Neonatal Screen 2024; 10. Carling RS, Hedgethorne K, Chakrapani A et al.

Link to full article: http://www.ncbi.nlm.nih.gov/pubmed/?term=38535128

The introduction provides a detailed exploration of the retrospective evaluation of newborn screening for isovaleric acidemia (IVA) in the United Kingdom, highlighting significant advances and persistent challenges. Since the introduction of the screening programme, the study identifies a high false-positive rate influenced by maternal medication and laboratory variability, resulting in substantial psychosocial and economic burdens. By analysing data over eight years, the research proposes the implementation of a tiered approach to secondary testing, combining isobar analysis and adjusted cut-off values to enhance specificity without compromising early detection in high-risk cases. This work emphasises the need for continuous refinement of newborn screening methodologies to balance diagnostic accuracy with practical feasibility.

Triple-Negative Breast Cancer EVs Modulate Growth and Migration of Normal Epithelial Lung Cells. Int J Mol Sci 2024; 25. Leone I, Santoro J, Soricelli A et al.

Link to full article: http://www.ncbi.nlm.nih.gov/pubmed/?term=38892050

The investigation into extracellular vesicles (EVs) derived from triple-negative breast cancer (TNBC) cells offers compelling insights into their role in modulating the behaviour of normal epithelial lung cells. This study highlights how EVs from TNBC cell lines significantly enhance cellular growth, motility, and invasion, emphasising their role in pre-metastatic niche formation and tumour progression. By exploring the molecular mechanisms and cargo carried by these EVs, this research underscores their potential as biomarkers and therapeutic targets in oncology. These findings provide a foundation for developing innovative strategies to mitigate metastasis and improve clinical outcomes in aggressive breast cancer subtypes.

Oncology

Influence of Breast Cancer Extracellular Vesicles on Immune Cell Activation: A Pilot Study. Biology (Basel) 2023; 12. Santoro J, Carrese B, Peluso MS et al.

Link to full article: http://www.ncbi.nlm.nih.gov/pubmed/?term=38132355

The investigation into the role of extracellular vesicles (EVs) in the tumour microenvironment presents a compelling exploration of their influence on immune system dynamics. This study examines EVs derived from 2D and 3D cultures of luminal B and triple-negative breast cancer cells, revealing their differential effects on key immune cells, such as natural killer (NK) cells and T-regulatory cells. The findings underscore the potential of EVs to modulate immune activation and suppressive mechanisms, offering valuable insights into their contributions to tumour progression and immune evasion. By elucidating these interactions, the research paves the way for innovative diagnostic and therapeutic strategies in breast cancer management.

Young Scientists

An Unclassified Deletion Involving the Proximal Short Arm of Chromosome 10: A New Syndrome? Genes (Basel) 2024; 15. Santoro G, Incoronato M, Spagnoli E et al.

Link to full article: http://www.ncbi.nlm.nih.gov/pubmed/?term=38927586

This study investigates an unclassified chromosomal deletion on the short arm of chromosome 10 (10p11.2-p12), contributing to the understanding of rare contiguous gene syndromes. The analysis focuses on a five-year-old patient presenting with unique phenotypic characteristics, including dysmorphic features, speech delay, and behavioural abnormalities, yet notably without motor delay despite the absence of the WAC gene deletion commonly associated with such syndromes. By exploring the genotype-phenotype correlations and comparing with previously documented cases, this research highlights the complex role of genetic variations in clinical presentations. These findings underscore the importance of precise genetic mapping in advancing diagnostic and therapeutic strategies for rare genetic disorders.