Maurizio Simmaco graduated in Medicine and Surgery in 1984, since 1989 he is specialist in Laboratory Medicine.
Since 1994 he is full professor of Biochemistry and Molecular Biology. He teaches at the Faculty of Medicine and Psychology of the Sapienza University of Rome. He is Director of the Clinical Biochemical Analysis Laboratory Unit of the Sant'Andrea University Hospital in Rome.
He is a member of the scientific bord of the European Society of Pharmacogenomics and Personalized Therapy (ESPT).
Scientific Activities:
- Primary structure of antioxidant proteins.
- Bioactive peptides with pharmacological and/or antibacterial activities from amphibian skin: structure, activity and identification of post-translational modifications in bioactive peptides.
- Phytotoxic lipodepsipeptides from Pseudomonas syringae.
- Proteomic studies on T lymphocytes (2DE/MALDI-ToF mass spectrometry) as biosensors.
- Pharmacogenomics and metabolomics.
- Personalized/Precision Medicine in clinical practice.
Publications:
EDUCATION
Academic career:
2003-present Full professor of Molecular Biology, Faculty of Medicine and Psychology, Sapienza University of Rome
2000-2003 Full professor of Biochemistry, II Faculty of Medicine, Sapienza University of Rome
1998-2000 Director of the Specialty School in Laboratory Medicine, University of Chieti
1994-2000 Full professor of Biochemistry, Faculty of Medicine, University of Chieti, Italy
1988-1994 Researcher at the National Research Council, Center of Molecular Biology
Hospital career:
2003-2017 Director of the Advanced Molecular Diagnosis Unit (DiMA), Sant'Andrea Hospital, Sapienza University of Rome
2017- present Director of Analytical Laboratory – Clinical Biochemistry and Advanced Molecular Diagnostics, Sant'Andrea University Hospital, Sapienza University of Rome
RESEARCH INTERESTS
- Primary structure of antioxidant proteins.
- Bioactive peptides peptides with pharmacological or antibacterial activities from amphibian skin: structure, activity and identification of post-translational modifications in bioactive peptides.
- Phytotoxic lipodepsipeptides from Pseudomonas syringae.
- Proteomic studies on T lymphocytes (2DE/MALDI-ToF mass spectrometry) as biosensors
- Pharmacogenomics and metabolomics
- Personalized/Precision Medicine
275
Scopus Publications
Scopus Publications
Investigating DRD2 and HTR2A polymorphisms in treatment-resistant schizophrenia: a comparative analysis with other treatment-resistant mental disorders and the healthy state Antonio Del Casale, Giovanna Gentile, Simone Lardani, Martina Nicole Modesti, Jan Francesco Arena, et al. European Archives of Psychiatry and Clinical Neuroscience, 2026 This study investigates treatment-resistant schizophrenia (TRS) by analysing genetic markers in dopamine and serotonin receptors. Conducted on a cohort of 221 patients with treatment-resistant mental disorders, the research focused on DRD2 and HTR2A gene variants—specifically, rs1801028, rs6314, rs7997012, and rs6311. The findings suggest specific associations between certain genetic variants and TRS. Notably, the HTR2A rs6314 A|G genotype and rs7997012 G|G genotype were significantly more prevalent in TRS patients compared to healthy controls (HCs). Haplotype analyses revealed associations between specific haplotypes—such as A|G (rs6314-rs7997012)—and TRS, indicating their potential predictive value for TRS versus HCs. The study underscores the involvement of the serotonergic system in TRS. These findings offer valuable insights into the genetic factors contributing to TRS, paving the way for future research and the development of personalised prevention and treatment strategies in psychiatry.
The Impact of Concordance between Liquid and Tissue Biopsy for Actionable Mutations: Insights from the ROME Trial Andrea Botticelli, Chiara Cremolini, Simone Scagnoli, Mauro Biffoni, Sara Lonardi, et al. Clinical Cancer Research, 2026 Purpose: This analysis evaluated the influence of tissue and liquid biopsy concordance on outcomes in patients enrolled in the ROME trial. Patients and Methods: The ROME trial, a phase II multicenter study, enrolled 1,794 patients with advanced solid tumors. Next-generation sequencing was performed on tissue and liquid biopsies using FoundationOne CDx and FoundationOne Liquid CDx. A centralized molecular tumor board reviewed results to identify actionable alterations, with 400 patients randomly assigned to tailored therapy (TT) or standard-of-care groups. TT improved objective response rate and progression-free survival (PFS) in the intention-to-treat population. Concordance was defined as the detection of the same druggable alteration in both biopsy types; discordance indicated detection in only one. Results: Concordance was present in 49% of cases, with alterations detected exclusively in tissue (35%) or liquid (16%) biopsies. Patients in the concordant group receiving TT experienced improved survival outcomes. The median overall survival was 11.05 versus 7.70 months in the standard-of-care group [HR = 0.74; 95% confidence interval, 0.51–1.07], and the median PFS was 4.93 versus 2.80 months (HR = 0.55; 95% confidence interval, 0.40–0.76), respectively. In contrast, the survival benefit of TT was less pronounced or absent in patients with discordant results. Overall survival was higher in the T + L group (11.05 months), followed by tissue-only (9.93 months) and liquid-only (4.05 months) groups. PFS followed a similar pattern, with the longest PFS in the T + L group (4.93 months) versus 3.06 months in tissue-only and 2.07 months in liquid-only groups. Conclusions: The study highlights the potential value of integrating both biopsy modalities in selected clinical contexts. See related commentary by Saldanha and Siu, p. 7
The Era of Precision Psychiatry: Toward a New Paradigm in Diagnosis and Care Antonio Del Casale, Liliana Bronzatti, Jan Francesco Arena, Giovanna Gentile, Carlo Lai, et al. Psychiatry International, 2025 Mental disorders affect nearly one billion persons worldwide, having a substantial burden on individuals, families, and healthcare systems. Current diagnostic and therapeutic approaches could fail to reach optimal outcomes, highlighting the need for more effective and personalized interventions. Precision psychiatry aims to address this challenge by integrating multidimensional data, ranging from genomics and epigenomics to neuroimaging and psychometric assessments, through advanced computational tools such as machine learning and artificial intelligence. This transdisciplinary approach could allow the study of biologically informed endophenotypes, improve diagnostic accuracy, and support individualized treatment strategies. Emerging technologies, including pharmaco-neuroimaging, virtual histology, and large-scale consortia, are advancing the field by elucidating the molecular and circuit-level correlates of mental disorders. Although significant progress has been made, the translational gap between research and clinical practice remains a critical issue. Effective implementation will require the systematic integration of bioinformatic tools, big data analytics, and clinician-guided interpretation, in a context in which the evolving landscape of precision psychiatry continues to prioritize therapeutic alliance and individualized patient care.
Characterization of Gut Microbiota Profile in Lipedema: A Pilot Study Laura Di Renzo, Giulia Frank, Barbara Pala, Rossella Cianci, Gemma Lou De Santis, et al. Nutrients, 2025 Background: Lipedema is a progressive disorder of subcutaneous connective tissue, predominantly affecting women, and characterized by an increase in subcutaneous adipose tissue, particularly in the lower body. This study aims to explore the gut microbiota (GM) profile in lipedema patients to characterize the associated GM and compare it with the control group. Methods: A prospective randomized case–control pilot study was conducted from September 2023 to May 2024, involving 55 Caucasian women, aged 20–60. The participants were divided into two groups: 35 with lipedema (LIPPY) and 20 controls (CTRL). Body composition was assessed using Dual X-ray Absorbimetry (DXA), and GM analysis was performed through 16S rRNA gene sequencing. Results: LIPPY subjects showed increased Intramuscular Adipose Tissue (IMAT) and reduced Lean Mass (LM)/Fat Mass (FM) ratios. While alpha and beta diversity metrics did not differ significantly between groups, differential abundance analysis identified a significant reduction in Eggerthellaceae (Log Fold Change (LFC) = −0.19, p = 0.04) and enrichment of Propionibacteriaceae (LFC = +0.18, p = 0.009) and Acidaminococcaceae (LFC = +0.32, p = 0.013) in the LIPPY group. Genus-level analysis showed a significant reduction in Blautia and Ruminiclostridium (LFC = −0.32 and −0.02; p = 0.02 and 0.04) and enrichment of Anaerostipes, Propionibacterium, and Phascolarctobacterium (LFC = +0.07, +0.17, and +0.34; p = 0.02, 0.005, 0.005, respectively). In correlation analyses, within LIPPY, Eggerthellaceae correlated negatively with Body Mass Index (BMI) (ρ = −0.61, p < 0.05) and positively with Appenicular (Appen) LM/Weight and AppenLM/BMI (ρ = +0.43 and +0.41, p < 0.05), while Anaerostipes correlated positively with these lean mass indices (ρ = +0.40, p < 0.05). In CTRL, only Anaerostipes showed a significant negative correlation with BMI (ρ = −0.64, p < 0.05). Conclusions: This study provides the first evidence of a distinct GM profile in LIPPY, with notable links to adverse body composition markers such as IMAT. Trial Registration: Trial registered on 24 June 2013 with ClinicalTrial.gov (NCT01890070).
High-Throughput Molecular Characterization of the Microbiome in Breast Implant-Associated Anaplastic Large Cell Lymphoma and Peri-Implant Benign Seromas Evelina Rogges, Giorgio Bertolazzi, Davide Vacca, Marina Borro, Gianluca Lopez, et al. Cancers, 2025 Background: Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a mature T-cell lymphoma linked to textured breast implants. A leading hypothesis suggests that chronic inflammation, combined with immunological and genetic factors, drives its pathogenesis. Two previous studies investigating bacterial biofilms on breast implant capsules have produced conflicting results, particularly regarding the enrichment of Ralstonia spp. Methods: We analyzed the microbiota profiles in seroma samples from 10 BIA-ALCL patients and 12 patients with non-neoplastic effusion, subclassified into acute-, mixed-, and chronic-type based on cellular composition. We used two metagenomic approaches: 16S rRNA gene sequencing and Nanopore sequencing with the “What’s in My Pot?” (WIMP) taxonomic classifier. Our analyses included alpha and beta diversity metrics, as well as comparisons of Gram status and oxygen requirements. Results: Both sequencing methods identified Staphylococcaceae, Propionibacteriaceae, and Bradyrhizobiaceae as the most prevalent bacterial families in both BIA-ALCL and benign seroma samples. Notably, the Burkholderiaceae family was more abundant in some of the benign seromas according to the 16S rRNA sequencing, but Ralstonia spp. were not detected. BIA-ALCL showed higher richness (based on Nanopore data) and higher evenness (based on 16S rRNA data) compared to acute-type seromas, indicating a more homogenous representation of the different taxa identified. BIA-ALCL seromas did not cluster together based on Nanopore data, but they did form a distinct cluster with 16S rRNA data. This cluster was differentiated from the other two clusters by a relatively balanced presence of multiple families without overt dominance. We observed no significant differences in Gram staining between BIA-ALCL and benign samples using either method. However, non-aerobic bacterial families were enriched in BIA-ALCL cases only when analyzed with the Nanopore pipeline. Conclusions: Overall, our findings did not identify a distinctive microbial signature specifically associated with BIA-ALCL.
Epilepsy expands the phenotype of L-arginine:glycine amidinotransferase deficiency Alessandro Ferretti, Roberta Battini, Olga Gagliardo, Daniela Verrigni, Maria Beatrice Manca, et al. Epilepsia, 2025 ObjectiveL‐arginine:glycine amidinotransferase (AGAT) deficiency is a rare autosomal recessive disorder affecting creatine biosynthesis, leading to developmental delay, intellectual disabilities, and myopathy. Unlike other creatine deficiency disorders, its link to epilepsy remains uncertain. This study presents the first reported epilepsy cases in AGAT deficiency, analyzing seizure patterns and response to creatine monohydrate supplementation.MethodsWe retrospectively analyzed two AGAT‐deficient probands identified through a national collaboration. Biochemical assessments of creatine and guanidinoacetate (GAA) levels in plasma and urine were performed using electrospray ionization tandem mass spectrometry and high‐performance liquid chromatography methods. Brain magnetic resonance spectroscopy was conducted to evaluate cerebral creatine levels pre‐ and postsupplementation.ResultsBoth probands carried the homozygous c.446G>A, p.(Trp149Ter) mutation in GATM, classified as pathogenic. The first, diagnosed at birth and treated with creatine from 4 months, had normal psychomotor development but developed focal epilepsy at 6 years, controlled with carbamazepine. The second, diagnosed at 5 years, presented with psychomotor delay, behavioral disturbances, and nocturnal seizures with unknown origin from age 4 years, later developing focal tonic seizures while awake. Initially the proband was unresponsive to carbamazepine; seizure control was achieved with valproate and lacosamide. Definitive conclusions on the role of creatine supplementation in epilepsy associated with AGAT deficiency cannot be drawn, as it was not modified after seizure onset in the first proband and introduced only after seizure control in the second.SignificanceThis study presents the first cases of epilepsy in AGAT deficiency, suggesting its prevalence may be underestimated. AGAT‐related epilepsy appears to be part of the associated developmental encephalopathy, with focal seizures and minimal impact on psychomotor development. In AGAT deficiency, epilepsy is not linked to GAA accumulation as in other creatine deficiency disorders but rather to low brain creatine levels, which may affect γ‐aminobutyric acidergic neurotransmission and seizure thresholds. The role of creatine supplementation in seizure control warrants further investigation.
