Daniel Nachun

All Publications

• Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders Cell Zhou, B., Arthur, J. G., Guo, H., et al 2024; Published online September 30, 2024

  View details for DOI 10.1016/j.cell.2024.09.014

• Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients HUMAN MOLECULAR GENETICS Nachun, D., Gao, F., Isaacs, C., Strawser, C., Yang, Z., Dokuru, D., Van Berlo, V., Sears, R., Farmer, J., Perlman, S., Lynch, D. R., Coppola, G. 2018; 27 (17): 2965–77

  Abstract

  Transcriptional changes in Friedreich's ataxia (FRDA), a rare and debilitating recessive Mendelian neurodegenerative disorder, have been studied in affected but inaccessible tissues-such as dorsal root ganglia, sensory neurons and cerebellum-in animal models or small patient series. However, transcriptional changes induced by FRDA in peripheral blood, a readily accessible tissue, have not been characterized in a large sample. We used differential expression, association with disability stage, network analysis and enrichment analysis to characterize the peripheral blood transcriptome and identify genes that were differentially expressed in FRDA patients (n = 418) compared with both heterozygous expansion carriers (n = 228) and controls (n = 93 739 individuals in total), or were associated with disease progression, resulting in a disease signature for FRDA. We identified a transcriptional signature strongly enriched for an inflammatory innate immune response. Future studies should seek to further characterize the role of peripheral inflammation in FRDA pathology and determine its relevance to overall disease progression.

  View details for DOI 10.1093/hmg/ddy198

  View details for Web of Science ID 000444202300002

  View details for PubMedID 29790959

  View details for PubMedCentralID PMC6097013