Mauro Pala

I am a computational geneticist working at the interface between human genetics, functional genomics and immunology. My research asks how genetic variants shape gene expression, immune cells and, ultimately, susceptibility to complex diseases, with a particular focus on multiple sclerosis and other autoimmune conditions.

I combine large-scale genetic association studies (GWAS) with quantitative trait mapping (eQTL, sQTL and immune-cell QTL), single-cell transcriptomics and immune-receptor repertoire profiling. Computational findings are taken to the bench through CRISPR/Cas9-based functional validation, with the aim of identifying causal genes and new therapeutic targets.

Much of my work builds on the genetically distinctive Sardinian population. I produced the first catalogue of genetic variants regulating gene expression and splicing in Sardinians, and contributed to studies linking immune-cell traits to autoimmunity, including the transcriptional role of the BAFF variant associated with multiple sclerosis and lupus.

As Principal Investigator

• HUBIOMICS – A Computational Hub for the Integration and Analysis of GWAS and Multi-Omics Data (2026 – ongoing)
  Role: Principal Investigator
  Topic: Computational platform integrating GWAS/QTL data with single-cell transcriptomics and immune-receptor repertoires, with CRISPR/Cas9-based functional validation.
• BLUE-MS – B Lymphocytes Unveil Etiopathogenesis in Multiple Sclerosis through genetic and transcriptomic analyses (Jun 2024 – Aug 2025, completed)
  Funding: PNRR M4C2 Inv. 1.3, MNESYS Extended Partnership (PE00000006), Spoke 7, cascade call by the University of Verona
  Role: Principal Investigator (co-PI: M. Pitzalis)
  Topic: Identifies B-cell subsets genetically linked to multiple sclerosis risk (GWAS and immunophenotypes). Includes single-cell RNA-seq with BCR profiling of cerebrospinal fluid from treatment-naïve patients at onset, and CRISPR/Cas9 validation of risk variants.
• ICSC – National Centre for HPC, Big Data and Quantum Computing, Spoke 8 (Sep 2022 – 2026)
  Funding: PNRR M4C2 Inv. 1.4, CN00000013
  Role: Principal Investigator, IRGB-CNR Operational Unit (IRGB-CNR is the CNR lead institute for Spoke 8)
  Topic: In-silico medicine and omics data analysis. Builds a standardized GWAS/QTL data platform for post-GWAS analysis and therapeutic target identification.

As Scientific Coordinator

• e.INS – Ecosystem of Innovation for Next Generation Sardinia (Nov 2022 – 2026)
  Funding: PNRR, Innovation Ecosystems, Spoke 1
  Role: Scientific Coordinator, IRGB-CNR Operational Unit
  Topic: Sardinian population cohort of about 100,000 individuals, extending the ProgeNIA study. Covers genetics, immunophenotyping and clinical data integration to identify new drug targets.

1. Diana MA, Onano S, Masala M, Murrau D, Cucca F, Santoni F, Pala M. COLSTATS: an interactive web platform for systematic colocalization of GWAS and QTL summary statistics. bioRxiv 2026 (preprint). doi:10.64898/2026.01.28.702279
2. Marini MG, Mingoia M, Steri M, …, Pala M, …, Cucca F. Reduced cyclin D3 expression in erythroid cells protects against malaria. Nature 2026;651(8106):698-706. doi:10.1038/s41586-026-10110-9
3. Orrù V, Marongiu M, Steri M, …, Pala M, …, Fiorillo E. Genetic co-regulation of neopterin and Parkinson’s disease. NPJ Parkinsons Dis 2026;12(1):69. doi:10.1038/s41531-026-01279-x
4. Serra V, Orrù V, Lai S, …, Pala M, …, Cucca F. FlowCLOc, a new tool for selecting the most appropriate antibodies in flow cytometry. Int J Mol Sci 2026;27(4):1664. doi:10.3390/ijms27041664
5. Piperni E, Nguyen LH, Manghi P, …, Pala M, …, Asnicar F. Intestinal Blastocystis is linked to healthier diets and more favorable cardiometabolic outcomes in 56,989 individuals from 32 countries. Cell 2024;187(17):4554-4570.e18. doi:10.1016/j.cell.2024.06.018
6. Forabosco P, Pala M, Crobu F, …, Cucca F. Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset. Front Immunol 2024;15:1350111. doi:10.3389/fimmu.2024.1350111
7. Manchinu MF, Pala M, Palmas MF, …, Carta AR. Region-specific changes in gene expression are associated with cognitive deficits in the alpha-synuclein-induced model of Parkinson’s disease: a transcriptomic profiling study. Exp Neurol 2024;372:114651. doi:10.1016/j.expneurol.2023.114651
8. Simbula M, Manchinu MF, Mingoia M, …, Pala M, …, Ristaldi MS. miR-365-3p mediates BCL11A and SOX6 erythroid-specific coregulation: a new player in HbF activation. Mol Ther Nucleic Acids 2023;34:102025. doi:10.1016/j.omtn.2023.09.002
9. Kanoni S, Graham SE, Wang Y, …, Pala M, …, Peloso GM. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. Genome Biol 2022;23(1):268. doi:10.1186/s13059-022-02837-1
10. Palmas MF, Etzi M, Pisanu A, …, Pala M, …, Carta AR. The intranigral infusion of human-alpha synuclein oligomers induces a cognitive impairment in rats associated with changes in neuronal firing and neuroinflammation in the anterior cingulate cortex. Cells 2022;11(17):2628. doi:10.3390/cells11172628
11. Ramdas S, Judd J, Graham SE, …, Pala M, …, Brown CD. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. Am J Hum Genet 2022;109(8):1366-1387. doi:10.1016/j.ajhg.2022.06.012
12. Sidore C, Orrù V, Cocco E, …, Pala M, …, Zoledziewska M. PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity. Mult Scler 2021;27(9):1332-1340. doi:10.1177/1352458520963937
13. Busonero F, Steri M, Orrù V, …, Pala M, …, Cucca F. A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia. Br J Haematol 2020;191(5):e124-e128. doi:10.1111/bjh.17090
14. Orrù V, Steri M, Sidore C, …, Pala M, …, Cucca F. Complex genetic signatures in immune cells underlie autoimmunity and inform therapy. Nat Genet 2020;52(10):1036-1045. doi:10.1038/s41588-020-0684-4
15. Balliu B, Durrant M, Goede O, …, Pala M, …, Montgomery SB. Genetic regulation of gene expression and splicing during a 10-year period of human aging. Genome Biol 2019;20(1):230. doi:10.1186/s13059-019-1840-y
16. Narayanan A, Gagliardi F, Gallotti AL, …, Pala M, …, Galli R. The proneural gene ASCL1 governs the transcriptional subgroup affiliation in glioblastoma stem cells by directly repressing the mesenchymal gene NDRG1. Cell Death Differ 2019;26(9):1813-1831. doi:10.1038/s41418-018-0248-7
17. Teumer A, Chaker L, Groeneweg S, …, Pala M, …, Medici M. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. Nat Commun 2018;9(1):4455. doi:10.1038/s41467-018-06356-1
18. Silverman M, Kua L, Tanca A, Pala M, …, Mathis D. Protective major histocompatibility complex allele prevents type 1 diabetes by shaping the intestinal microbiota early in ontogeny. Proc Natl Acad Sci U S A 2017;114(36):9671-9676. doi:10.1073/pnas.1712280114
19. Pala M, Zappala Z, Marongiu M, …, Montgomery SB. Population- and individual-specific regulatory variation in Sardinia. Nat Genet 2017;49(5):700-707. doi:10.1038/ng.3840
20. Steri M, Orrù V, Idda ML, Pitzalis M, Pala M, …, Cucca F. Overexpression of the cytokine BAFF and autoimmunity risk. N Engl J Med 2017;376(17):1615-1626. doi:10.1056/NEJMoa1610528
21. Davis JR, Fresard L, Knowles DA, Pala M, …, Montgomery SB. An efficient multiple-testing adjustment for eQTL studies that accounts for linkage disequilibrium between variants. Am J Hum Genet 2016;98(1):216-224. doi:10.1016/j.ajhg.2015.11.021
22. Danjou F, Zoledziewska M, Sidore C, …, Pala M, …, Cucca F. Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. Nat Genet 2015;47(11):1264-1271. doi:10.1038/ng.3307
23. Nance T, Smith KS, Anaya V, …, Pala M, …, Montgomery SB. Transcriptome analysis reveals differential splicing events in IPF lung tissue. PLoS One 2014;9(3):e92111. doi:10.1371/journal.pone.0092111
24. Mazzoleni S, Jachetti E, Morosini S, …, Pala M, …, Galli R. Gene signatures distinguish stage-specific prostate cancer stem cells isolated from transgenic adenocarcinoma of the mouse prostate lesions and predict the malignancy of human tumors. Stem Cells Transl Med 2013;2(9):678-689. doi:10.5966/sctm.2013-0041
25. Gagliani N, Magnani CF, Huber S, Gianolini ME, Pala M, …, Roncarolo MG. Coexpression of CD49b and LAG-3 identifies human and mouse T regulatory type 1 cells. Nat Med 2013;19(6):739-746. doi:10.1038/nm.3179
26. Ranzani M, Cesana D, Bartholomae CC, …, Pala M, …, Montini E. Lentiviral vector-based insertional mutagenesis identifies genes associated with liver cancer. Nat Methods 2013;10(2):155-161. doi:10.1038/nmeth.2331
27. Corno D, Pala M, Cominelli M, …, Galli R. Gene signatures associated with mouse postnatal hindbrain neural stem cells and medulloblastoma cancer stem cells identify novel molecular mediators and predict human medulloblastoma molecular classification. Cancer Discov 2012;2(6):554-568. doi:10.1158/2159-8290.CD-11-0199
28. Magri L, Cambiaghi M, Cominelli M, …, Pala M, …, Galli R. Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions. Cell Stem Cell 2011;9(5):447-462. doi:10.1016/j.stem.2011.09.008
29. Mazzoleni S, Politi LS, Pala M, …, Galli R. Epidermal growth factor receptor expression identifies functionally and molecularly distinct tumor-initiating cells in human glioblastoma multiforme and is required for gliomagenesis. Cancer Res 2010;70(19):7500-7513. doi:10.1158/0008-5472.CAN-10-2353