This study identifies ATRX deficiency as a driver of aberrant type I interferon signaling via cGAS-dependent transcriptional dysregulation in patients with cerebral white matter disease.

Nature Communications · Oct 8, 2026Peer-reviewedImmunology

NAP1 switches from an activator to a limiter of interferon induction by trapping TBK1 in condensates

Damien Glon, Quentin Riller, Lucı́a Álvarez, Louise Gioja, Frédéric Rivière, Benjamin Léonardon, Zackie Aktary, Ariane Guillemot, Laïla Sago, Olivier Pellé, Nhat-Duong Ho, Karine Brochard, Camille Brunaud, Luís Seabra, Gillian Rice, , Yves Gaudin

This study shows NAP1 switches from enhancing to limiting TBK1 activity through condensate formation, affecting IFN induction and linking to interferonopathies.

Nature Communications · Aug 19, 2026Peer-reviewedImmunology

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

Charlie F Rowlands, Algy Taylor, Gillian Rice, Nicola Whiffin, Hildegard Nikki Hall, William G. Newman, Graeme Charles M. Black, kConFab Investigators, Raymond T. O’Keefe, Simon J. Hubbard, Andrew G.L. Douglas, Diana Baralle, Tracy Ann Briggs, Jamie M. Ellingford

The paper introduces MRSD, a metric to determine optimal RNA-seq depth and tissue for assessing splicing variants in Mendelian diseases, showing LCLs are best for most gene panels.

The American Journal of Human Genetics · Jan 21, 2022Peer-reviewedGenetic & Genomic Medicine

Novel intramolecular base-pairing of the U8 snoRNA underlies a Mendelian form of cerebral small vessel disease

Andrew P. Badrock, Carolina Uggenti, Ludivine Wacheul, Siobhan Crilly, Emma M. Jenkinson, Gillian Rice, Paul R. Kasher, Denis L. J. Lafontaine, Yanick Joseph Crow, Raymond T. O’Keefe

The paper identifies a novel base-pairing interaction in the U8 snoRNA that underlies a Mendelian form of cerebral small vessel disease by analyzing zebrafish models and patient fibroblasts.

bioRxiv · Dec 12, 2019 · PreprintGenetics