Myriam Fornage

Sep 8, 2024 | nature.com | Shahzad Ahmad |Aniket Mishra |Marisol Herrera-Rivero |Joshua C. Bis |Myriam Fornage |Gennady V Roshchupkin | +13 more

AbstractNeurofilament light chain (NfL) levels in circulation have been established as a sensitive biomarker of neuro-axonal damage across a range of neurodegenerative disorders. Elucidation of the genetic architecture of blood NfL levels could provide new insights into molecular mechanisms underlying neurodegenerative disorders.

May 6, 2024 | nature.com | Yash Pershad |Adrienne M. Stilp |Braxton D. Mitchell |Joshua Lewis |Nathalie Chami |Zhe Wang | +21 more

AbstractClonal hematopoiesis (CH) is characterized by the acquisition of a somatic mutation in a hematopoietic stem cell that results in a clonal expansion. These driver mutations can be single nucleotide variants in cancer driver genes or larger structural rearrangements called mosaic chromosomal alterations (mCAs). The factors that influence the variations in mCA fitness and ultimately result in different clonal expansion rates are not well understood.

Oct 30, 2023 | nature.com | Yasminka A. Jakubek |Adrienne M. Stilp |Justin Wong |Zuhal Özcan |Kathleen C. Barnes |Joshua C. Bis | +22 more

AbstractMegabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers for a host of human diseases. Here, to gain a better understanding of mCA rates in genetically diverse populations, we analyzed whole-genome sequencing data from 67,390 individuals from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine program.

Sep 28, 2023 | nature.com | Maryam Kavousi |Haojie Lu |Chani J. Hodonsky |Joris Deelen |Xiuqing Guo |Leo-Pekka Lyytikäinen | +31 more

AbstractCoronary artery calcification (CAC), a measure of subclinical atherosclerosis, predicts future symptomatic coronary artery disease (CAD). Identifying genetic risk factors for CAC may point to new therapeutic avenues for prevention. Currently, there are only four known risk loci for CAC identified from genome-wide association studies (GWAS) in the general population.

Apr 12, 2023 | nature.com | Joshua Weinstock |Bala Bharathi Burugula |Mesbah Uddin |Bence Daniel |Shaneice Mitchell |Cecelia Laurie | +41 more

AbstractMutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells (HSCs), leading to clonal haematopoiesis1. These lesions are precursors for blood cancers2,3,4,5,6, but the basis of their fitness advantage remains largely unknown, partly owing to a paucity of large cohorts in which the clonal expansion rate has been assessed by longitudinal sampling.