Pietro Spitali
Also known as: Pietro Spitali
Leiden University Medical Center, University of Ferrara, University of Parma
Research areas: Biochemistry, Genetics and Molecular Biology · Molecular Biology · Muscle Physiology and Disorders · Neurogenetic and Muscular Disorders Research · Genomics and Rare Diseases
About
Pietro Spitali received his M.Sc. at the University of Ferrara in 2007 cum laude. He received his PhD in 2010 for the work he did on Duchenne Muscular Dystrophy (DMD) at the University of Ferrara on the developed of antisense oligonucleotides (ASOs) targeting dystrophin pre-mRNA.
In 2010 he moved to the group of prof. Annemieke Aartsma-Rus at the Human Genetics department of the Leiden University Medical Center in the Netherlands, first as post-doctoral researcher and later as 2014 as assistant professor. During this period Pietro focused on understanding the regulation of the DMD gene and on the identification of non-invasive biomarkers for patients affected by DMD and other neuromuscular disorders.
Since 2023 he leads his own research group as associate professor at the Human Genetics department of the LUMC. His lab focuses on identification of biomarkers in neuromuscular disorders in pre-clinical and clinical studies. He is also actively researching the basic mechanism of gene expression regulation in muscle by studying RNA binding proteins, pre-mRNA synthesis and gene expression at spatial resolution. He is currently co-coordinator of Fluid Biomarker workgroup of the Duchenne Regulatory Science Consortium (D-RSC) of the Critical Path Institute, member of the TREAT-NMD Neuromuscular Disease Advisory Committee (NMDAC) and founding member of the Netherlands single-cell network.
His research has been funded by patients organizations such as the Prinses Beatrix Spierfonds, the AFM-Téléthon, the Duchenne Parent Project and Parent Project Muscular Dystrophy, as well as by EU and NIH grants and by companies such as Entrada Therapeutics and Edgewise Therapeutics.
Employment
-
Leiden University Medical Center Associate Professor - Principal Investigator2023 - Present
-
Leids Universitair Medisch Centrum Assistant Professor2014 - 2023
-
Leids Universitair Medisch Centrum Post-doc researcher2010 - 2014
Education
-
Universita degli Studi di Ferrara PhD in Human Genetics2007 - 2010
-
Universita degli Studi di Ferrara Master in Molecular Biology2003 - 2006
-
Universita degli Studi di Parma Bachelor in Biotechnology2000 - 2003
Projects & Funding
-
Integration of –omic biomarkers to non-invasively monitor disease progression and response to therapy Duchenne Parent Project2017 - 2019
-
Identification of blood derived transcriptomic biomarkers for Duchenne muscular dystrophy Association Francaise contre les Myopathies2016 - 2017
-
Duchenne Expert Centre Netherlands Spieren voor Spieren2016 - 2020
-
Aptamer-based serum biomarker profiling in DMD longitudinal samples Parent Project Muscular Dystrophy2015 - 2016
-
Samples coordination to validate non-invasive biomarkers Duchenne Parent Project NL2014 - 2015
-
Validation of serum biomarkers to monitor disease progression and response to therapy in DMD and other Muscular Dystrophies Association Francaise contre les Myopathies2014 - 2016
-
Elucidating mRNA-protein complexes to facilitate therapeutic approaches for DMD Prinses Beatrix Spierfonds2014 - 2018
-
Identification of serum biomarkers for monitoring progression and early corticosteroid effect in Duchenne Muscular Dystrophy Association française contre les myopathies2011 - 2014
Publications (139)
- Spatial transcriptomics maps region and isoform specific brain alterations in mdx and mdx4cv models of Duchenne muscular dystrophy Save
- High-Resolution Spatial Transcriptomics Reveals Interferon-Associated Immune Niches and Antigen Presentation Programs in Inclusion Body Myositis Save
- Evaluation of a serum protein signature as monitoring biomarker for Duchenne muscular dystrophy in a long-term clinical trial with corticosteroids. Save
- Creatine/Creatinine Ratio and Myostatin as Biomarkers to Monitor Muscle Function in Duchenne Muscular Dystrophy Patients Save
- Quantitative tandem mass tag-based serum proteomics for longitudinal biomarker monitoring in Duchenne muscular dystrophy. Save
- Understanding the neurobehavioural impact of Duchenne muscular dystrophy: A multicentre European study. Save
- The complexity of dystrophin transcription and processing: implications of transcript imbalance on dystrophin gene targeting strategies Save
- Evaluation of a serum protein signature as monitoring biomarker for Duchenne Muscular Dystrophy in a long-term clinical trial with corticosteroids Save
- Screening for brain-related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener. Save
- MDBiomarkers: A queryable biomarkers database integrating multiple serum and tissue datasets for Duchenne muscular dystrophy Save
- Quantification of a serum titin fragment reflects dystrophin restoration in mdx mice and disease severity in patients with dystrophinopathies Save
- Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies Save
- Circulating protein biomarkers identified in two independent clinical trial cohorts of glucocorticoid-naive Duchenne muscular dystrophy patients. Save
- Correlation of C-Reactive Protein With Severe Fatigue in Patients With Myasthenia Gravis Save
- Exploring the evidence for the use of protein biomarkers of muscular damage and disease progression in Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis protocol Save
- Large-scale serum protein biomarkers discovery associated with function and clinical milestones in Duchenne muscular dystrophy Save
- Sensitivity of Different Clinical Outcome Measures in Assessing Adults With Becker Muscular Dystrophy Save
- Evaluating exon-skipping therapies targeting the central nervous system in Duchenne muscular dystrophy using high-resolution spatial transcriptomics Save
- Regional Expression of Dystrophin Gene Transcripts and Proteins in the Mouse Brain Save
- Creatine/creatinine ratio and myostatin as biomarkers to monitor muscle function in Duchenne Muscular Dystrophy patients Save