Genetics

Genetics

Study reveals molecular subtypes of Down syndrome, offering insights for personalized medicine approaches microbiologystudy

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Individuals with Down syndrome show variegated overexpression of genes encoded on chromosome 21. Credit: Nature Communications (2024). DOI: 10.1038/s41467-024-49781-1 A new study published in Nature Communications by researchers from the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz Medical Campus reports a significant breakthrough. The research, part of the […]

Genetics

Gene behind rare muscle disease discovered microbiologystudy

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Credit: Unsplash/CC0 Public Domain Researchers at the Harry Perkins Institute of Medical Research and The University of Western Australia (UWA) have discovered the genetic cause of a rare muscle disease that causes muscle weakness, droopy eyelids and difficulty swallowing. The disease known as oculopharyngodistal myopathy (OPDM) is an inherited muscle disease. Genes associated with OPDM

Genetics

Classifying molecular profiles for precision medicine microbiologystudy

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Schematic diagram of MT in GBM. Under the influence of many regulators represented by NF-κB, as well as many microenvironmental factors such as hypoxia, exosomes, and macrophages, GBM cells undergo mesenchymal transformation. Credit: Cancer Biology & Medicine Glioblastoma multiforme (GBM) stands as a formidable adversary in oncology, characterized by its molecular complexity and relentless progression.

Genetics

DNA fragments help detect kidney organ rejection microbiologystudy

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dd-cfDNA levels according to kidney allograft diagnoses. Mean level of dd-cfDNA according to the histological biopsy results. Each bar corresponds to one histological diagnosis with its mean dd-cfDNA value. Each dot corresponds to an individual dd-cfDNA value. Data are presented as mean ± s.e.m. The figure shows the increment of dd-cfDNA with active diseases (CA-TCMR, CA-AMR, active

Genetics

Cracking the code of life: new AI model learns DNA’s hidden language

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DNA contains foundational information needed to sustain life. Understanding how this information is stored and organized has been one of the greatest scientific challenges of the last century. With GROVER, a new large language model trained on human DNA, researchers could now attempt to decode the complex information hidden in our genome. Developed by a

Genetics

Research team reveals how TREM2 genetic mutation affects late-onset Alzheimer’s microbiologystudy

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MERFISH spatial transcriptomics enables spatial variation analysis of the transcriptome at the cell type level. A Dataset overview consisting of 15 samples, from WT, Trem2R47H, 5xFAD and Trem2R47H; 5xFAD mice. Cell counts in batch 1 are aggregated across two technical replicates, resulting in approximately double the cell counts of the other batches. B Integration of

Genetics

Age impacts pharmacogenomics and treatment outcomes for most common form of leukemia microbiologystudy

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Jun J. Yang, PhD, St. Jude Departments of Pharmacy and Pharmaceutical Sciences and Oncology and first co-authors Zhenhua Li, PhD, and Satoshi Yoshimura, MD, PhD, demonstrated that treatment and age impact outcomes for B-cell acute lymphoblastic leukemia.  Credit: St. Jude Children’s Research Hospital Acute lymphoblastic leukemia (ALL) affects both children and adults, but children have

Genetics

Scientists use DNA methylation patterns as roadmap for identifying causes of severe epilepsies in children microbiologystudy

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Description of the DNA methylation analysis and features of the study cohort. Credit: Nature Communications (2024). DOI: 10.1038/s41467-024-50159-6 To effectively treat a disease or disorder, doctors must first know the root cause. Such is the case for developmental and epileptic encephalopathies (DEEs), whose root causes can be hugely complex and heterogeneous. Scientists at St. Jude

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