Alberto Daniel-Moreno

Nanopore based RNA methylation profiling of a circulating lung cancer biomarker

Marta Sánchez-Delgado, Maurice Frank, Tomáš Šišmiš, Mustafa Kahraman et autres

The characterisation of circulating nucleic acid biomarkers in liquid biopsy based diagnostics holds great potential to transform the landscape of early cancer detection and screening. These tests are increasingly incorporating information beyond the primary sequence, to include epigenetic, fragmentomic, and other chemical …

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Synergies between Small RNA and Protein Biomarkers for Early Detection of Cognitive Impairment – results from EPAD

Tobias Sikosek, Marco Heuvelman, Jagoda Mika, Mustafa Kahraman et autres

Abstract Background Alzheimer's disease (AD), the most common form of dementia, is typically diagnosed using the AT(N) framework, which assesses amyloid, tau, and neurodegeneration biomarkers. However, this framework has limitations, particularly in predicting cognitive decline among amyloid‐positive individuals. Method This study explores …

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Early detection of Alzheimer’s disease using small RNAs. Results from the EPAD cohort

Tobias Sikosek, Marco Heuvelman, Mustafa Kahraman, Julia Jehn et autres

BACKGROUND: Alzheimer's disease (AD) is the most common form of dementia, and early diagnosis is crucial to enable effective interventions. Currently, Alzheimer's disease is diagnosed through cognitive assessments, brain imaging and fluid biomarkers focused on determining amyloid (A) and, tau (T) protein …

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miR-Blood – a small RNA atlas of human blood components

Julia Jehn, Franziska Christina Trudzinski, Rastislav Horos, Judith Schenz et autres

miR-Blood is a high-quality, small RNA expression atlas for the major components of human peripheral blood (plasma, erythrocytes, thrombocytes, monocytes, neutrophils, eosinophils, basophils, natural killer cells, CD4+ T cells, CD8+ T cells, and B cells). Based on the purified blood components from …

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B-375 Mer-idpcr: A Method for Sequence-specific Measurement of Small RNA Expression and Methylation in Liquid Biopsies

Rastislav Horos, Alberto Daniel-Moreno, C Bieg-Salazar, Jasmin Skottke et autres

Abstract Background Small RNAs are an important class of biomarkers in liquid biopsy for cancer diagnostics. New discoveries in the field of “epitranscriptomics” have uncovered further functional layers of tumor biology that are ignored by standard gene expression measurement methods. Therefore, there …

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Early Detection of Lung Cancer Using Small RNAs

Tobias Sikosek, Rastislav Horos, Franziska Christina Trudzinski, Julia Jehn et autres

INTRODUCTION: Lung cancer remains the deadliest cancer in the world, and lung cancer survival is heavily dependent on tumor stage at the time of detection. Low-dose computed tomography screening can reduce mortality; however, annual screening is limited by low adherence in the …

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Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9

Anne S. Schmitz, Milena Korneck, Janani Raju, Andrés Lamsfus‐Calle et autres

Mutations in Colony-stimulating factor 1 receptor (CSF1R) lead to CSF1R-related leukoencephalopathy, also known as Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rapidly progressing neurodegenerative disease with severe cognitive and motor impairment. In this study, a homozygous and a heterozygous …

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Automated Good Manufacturing Practice-Compatible CRISPR-Cas9 Editing of Hematopoietic Stem and Progenitor Cells for Clinical Treatment of β-Hemoglobinopathies

Guillermo Ureña-Bailén, Milena Block, Tommaso Grandi, Faidra Aivazidou et autres

Cellular therapies hold enormous potential for the cure of severe hematological and oncological disorders. The forefront of innovative gene therapy approaches including therapeutic gene editing and hematopoietic stem cell transplantation needs to be processed by good manufacturing practice to ensure safe application …

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Challenges in Gene Therapy for Somatic Reverted Mosaicism in X-Linked Combined Immunodeficiency by CRISPR/Cas9 and Prime Editing

Yujuan Hou, Guillermo Ureña-Bailén, Tahereh Mohammadian Gol, Paul Gerhard Gratz et autres

X-linked severe combined immunodeficiency (X-SCID) is a primary immunodeficiency that is caused by mutations in the interleukin-2 receptor gamma (IL2RG) gene. Some patients present atypical X-SCID with mild clinical symptoms due to somatic revertant mosaicism. CRISPR/Cas9 and prime editing are two advanced …

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A blood-based miRNA signature with prognostic value for overall survival in advanced stage non-small cell lung cancer treated with immunotherapy

Timothy Rajakumar, Rastislav Horos, Julia Jehn, Judith Schenz et autres

Immunotherapies have recently gained traction as highly effective therapies in a subset of late-stage cancers. Unfortunately, only a minority of patients experience the remarkable benefits of immunotherapies, whilst others fail to respond or even come to harm through immune-related adverse events. For …

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CRISPR Medicine: Advance, Progress and Challenges

Guillermo Ureña-Bailén, Justin S. Antony, Yujuan Hou, Janani Raju et autres

The CRISPR/Cas breakthrough has greatly improved the biomedical research field and has accelerated the development of effective cellular therapies for the treatment of infectious and genetic diseases. Thanks to its simplicity, versatility, and easy access, this technology has widely spread around the …

A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy

Justin S. Antony, Alberto Daniel-Moreno, Andrés Lamsfus‐Calle, Janani Raju et autres

Metachromatic leukodystrophy (MLD) is a rare genetic disorder caused by mutations in the Arylsulfatase-A ( ARSA ) gene. The enzyme plays a key role in sulfatide metabolism in brain cells, and its deficiency leads to neurodegeneration. The clinical manifestations of MLD include …

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