No transfusion confusion
A genomics-based solution for identifying blood type has been launched in the US (https://bit.ly/3yDmHE1). The array-based assay offers extended blood typing – covering over 40 genes and 260 antigens over 38 blood group systems – to identify both common and rare blood types. The manufacturers commented, “Having access to a scalable, array-based blood typing solution may help blood services effectively screen extended blood types for more precise blood matching.” The assay was developed in collaboration with the Blood Transfusion Genomics Consortium, whose vision is to “one day make comprehensive blood typing for all donor and patient blood the standard of care.”
Infertility indicators
A European collaboration has trained a convolutional neural network (CNN) in the recognition of CD138-positive cells on whole slide images of endometrial biopsy samples (https://bit.ly/3yuSdUT). The study used the CNN tool to assess the relationship between the number of CD138-positive cells and specific reproductive disorders: polycystic ovary syndrome and recurrent implantation failure. The report states: “The algorithm reveals that the occurrence of CD138+ is influenced by PCOS phenotypes and menstrual cycle phases, whereas receptivity status in RIF did not seem to play a role.”
Into the imprintome
A US study has revealed a new risk factor for Alzheimer’s disease (AD) – methylation of DNA regions that regulate genomic imprinting (PMID: 38658973). These genetic aberrations are caused by environmental factors during early development, and could be used as an early warning sign for AD – decades before its onset. The team used whole-genome bisulfite sequencing to examine the methylation pattern of the genome. They identified variations in the area known as the “imprintome” in AD brain samples versus controls. Additionally, the team detected more methylated imprint control regions in the samples from black patients than white patients, which could account for racial differences in AD prevalence.
Subtypical
A study published in Nature Communications shows that idiopathic Parkinson’s disease (iPD) has two distinct molecular subtypes (PMID: 38684731). Further, these may be differentiated by the level of deficiency in a protein called neuronal respiratory complex 1 (C1). Not only could the findings explain anomalous results in previous iPD pathological studies, but they could also have implications for precision medicine studies for iPD. The report states, “to efficiently translate these findings into clinical practice requires the development of clinically applicable biomarkers, allowing us to classify individuals in vivo.”
Metastatic colonies
Researchers investigate the link between metastatic cancers and bacteria, using a combination of sequencing techniques to produce a pan-cancer microbiome atlas (PMID: 38599211).
In the family
A new ASCO guideline aims to standardize germline genetic testing of patients with cancer – from patient selection and recording the family cancer history to which multigene testing panels to use (PMID: 38759122).
High-risk melanoma
Study results validating a seven-panel IHC prognostic test for early-stage skin cancer are presented at ASCO. Link
Omics funding boost
The Bill & Melinda Gates Foundation continues to support omics research, issuing multiple grants to projects in the field through May and June this year. Link
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