Andrea Accogli
McGill University, McGill University Health Centre, University of Genoa
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Fetal and Pediatric Neurological Disorders
0000-0001-8724-6721
About
I am a medical geneticist and clinician-scientist at McGill University and the Research Institute of the McGill University Health Centre (RI-MUHC) in Montréal, Canada. I trained in pediatrics and medical genetics, with subsequent research training focused on disorders of brain development.
My clinical and research activities focus on rare neurogenetic disorders, particularly neurodevelopmental disorders. My research program integrates detailed clinical phenotyping and genomic sequencing to identify novel disease genes and define emerging genetic disorders, functional studies to elucidate their underlying molecular mechanisms, and the development of therapeutic strategies. I use complementary experimental models, including patient-derived cells, multi-omics analyses, neuronal models, and in vivo systems, to translate genetic discoveries into mechanism-based therapies for rare neurogenetic disorders.
Employment
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McGill University Medical Geneticist2025 - Present
Education
- 2021 - 2026
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McGill University Health Centre Residency in Medical Genetics and Genomics2020 - 2024
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McGill University Fellowship in Neurogenetics2017 - 2018
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University of Genoa Residency in Medical Genetics2016 - 2020
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University of Genoa Residency in Pediatrics2011 - 2016
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University of Genoa Medical Degree2003 - 2009
Projects & Funding
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RNA Helicase Dysfunction in Epilepsy: The Role of DHX15 Savoy Foundation2026 - 2027
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From Variant to Function to Therapeutics: An Integrative Framework for Neurodevelopmental Disorders McGill University Health Centre2026 - Present
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Rare Diseases: Models & Mechanisms (RDMM) Network – DHX15 CIHR2026 - Present
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Unveiling New Genetic Players in Axon Guidance and neuronal migration Defects Canadian Institutes of Health Research2024 - 2027
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Découverte de nouveaux facteurs génétiques impliqués dans les défauts du guidage axonal et de la migration neuronale Fonds de Recherche du Québec - Santé2024 - 2028
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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation CIHR2024 - 2024
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Research training award - Characterization of the genetic landscape of schizencephaly Supported my Neurogenetics McGill Fellowship. Value: Euro 10,000 Italian Society of Pediatrics2017 - 2018
Publications (130)
- Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features. Save
- Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC-Related Disorder. Save
- Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases. Save
- Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes. Save
- A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders. Save
- Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling. Save
- Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome. Save
- Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder. Save
- BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations. Save
- Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity. Save
- Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders. Save
- Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation. Save
- Clinical and molecular characterization of patients with YWHAG-related epilepsy. Save
- De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Save
- A second hotspot for pathogenic exon-skipping variants in CDC45. Save
- Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. Save
- Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder. Save
- Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals. Save
- Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Save
- Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. Save