Genetic Variations and Disease


Lila Allou

Telephone: 0208-383-8331

Admin Contact

Helen Figueira
Research Administration Manager
Ext: 38336



“Intergenic structural variation is a critically understudied class of mutation, although it is likely to contribute significantly to unsolved genetic disease.”

Structural variants (SVs) are changes in the genome structure with a minimum size of 50 bp. They can include inversions, balanced translocations, or genomic imbalances (insertions, deletions, and duplications). Interpreting the impact of SVs, particularly intergenic SVs, on human health and disease is challenging. However, this is of particular importance to diagnose at least a subset of the 300 million undiagnosed patients with a rare disease and to develop novel therapeutic strategies for cancer patients.

We aim to unravel the molecular consequences of SVs in development and disease. We will combine computational biology and experimental manipulation tools to investigate the functional consequences of SVs in rare diseases and explore potential SV-derived therapeutic targets in cancer. Notably, we will employ synthetic genomics for mouse or human genome rewriting to study the functional consequences of SVs. This powerful tool allows us to better understand human pathologies and develop novel therapies by faithfully recapitulating human diseases in mice.

Selected Publications

Allou L, Mundlos S. Disruption of regulatory domains and novel transcripts as disease-causing mechanisms. Bioessays. 2023 Oct;45(10):e2300010. doi: 10.1002/bies.202300010. Epub 2023 Jun 29. PMID: 37381881.

Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schöpflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenço CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, Chiesa C, Niel-Bütschi F, Wittler L, Timmermann B, Spielmann M, Robson MI, Ringel A, Heinrich V, Cova G, Andrey G, Prada-Medina CA, Pescini-Gobert R, Unger S, Bonafé L, Grote P, Rivolta C, Mundlos S, Superti-Furga A. Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature. 2021 Apr;592(7852):93-98. doi: 10.1038/s41586-021-03208-9. Epub 2021 Feb 10. PMID: 33568816.

Allou L, Julia S, Amsallem D, El Chehadeh S, Lambert L, Thevenon J, Duffourd Y, Saunier A, Bouquet P, Pere S, Moustaïne A, Ruaud L, Roth V, Jonveaux P, Philippe C. Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. Clin Genet. 2017 Mar;91(3):431-440. doi: 10.1111/cge.12784. Epub 2016 May 11. PMID: 27062609.

Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C. 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. Eur J Hum Genet. 2012 Dec;20(12):1216-23. doi: 10.1038/ejhg.2012.127. Epub 2012 Jun 27. PMID: 22739344; PMCID: PMC3499785.