New Dataset Provides a New Resource for Genetic and Epigenetic Insights into sporadic ALS

Feró O, Varga D, Nagy É, Karányi Z, Sipos É, Engelhardt J, Török N, Balogh I, Vető B, Likó I, Fóthi Á, Szabó Z, Halmos G, Vécsei L, Arányi T, Székvölgyi L. DNA methylome, R-loop and clinical exome profiling of patients with sporadic amyotrophic lateral sclerosis. Sci Data. 2024 Jan 24;11(1):123. doi: 10.1038/s41597-024-02985-y. PMID: 38267456.

Summary

The article presents a comprehensive epigenomic study by the labs of Drs. Lóránt Székvölgyi and Tamás Arányi. It focuses on analyzing molecular factors in sporadic ALS patients using techniques like Clinical Exome Sequencing, DNA-RNA hybrid immunoprecipitation sequencing, and Reduced Representation Bisulfite Sequencing. The study aims to uncover genetic and epigenetic changes associated with ALS, potentially aiding in understanding the disease's causes and developing new therapies.

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Multi-Center GENFI Study Validates NfL as a Reliable Biomarker in Genetic FTD Research

Linnemann C, Wilke C, Mengel D, et al. NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study

Journal of Neurology, Neurosurgery & Psychiatry Published Online First: 19 January 2024. doi: 10.1136/jnnp-2023-332464

Summary

A multi-center study lead by Drs. Christoph Linnemann and Matthis Synofzik evaluates blood neurofilament light chain (NfL) as a biomarker for genetic frontotemporal dementia (gFTD) in multi-center trials. They examine NfL's lab-to-lab reliability, stage stratification capability in gFTD, comparability between blood matrices, and stability across recruiting sites. Analysis of 344 samples from a gFTD cohort shows high consistency and reliability of NfL across different labs, effectiveness in distinguishing gFTD stages, and robustness across multiple sites. The teams findings support NfL's suitability as a biomarker in gFTD multi-center trials.

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https://doi.org/10.1136/jnnp-2023-332464