Presentation
Anne graduated from University Pierre and Marie Curie (France) obtaining a Master degree in Biotechnology. She discovered her passion in gene therapy during an internship at uniQure (Netherlands) in 2017. Here, she worked on the implementation of a quantitative assay for AAV detection and the improvement of the packaging quality of transgenes in AAVs. In 2018, she joined the laboratory of Dr. Annarita Miccio as an junior research assistant working on the development of lentiviral and genome editing strategies for β-hemoglobinopathies. She is also working on the follow-up of gene-therapy treated patients in the Laboratory of Cellular and Gene Therapy led by Prof. Marina Cavazzana.
Resources & publications
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2019Journal (source)ElifeHigh N-glycan multiplicity is critical for neuronal adhesion and sensitizes t...
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2019Journal (source)Brain
Biallelic mutations in neurofascin cause neurodevelopmental impairment and pe...
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2019Journal (source)Brain
De novo mutation screening in childhood-onset cerebellar atrophy identifies g...
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2017Journal (source)Orphanet J Rare Dis
Utility of whole exome sequencing for the early diagnosis of pediatric-onset ...
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2020Journal (source)Am. J. Hum. Genet.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,...
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2018Journal (source)Hum Mutat
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
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2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2021Journal (source)Blood
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl...
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2016Journal (source)Am J Hum Genet
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spec...
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2015Journal (source)Nat Genet
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and...
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2013Journal (source)Cell
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neuro...
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2014Journal (source)Cell
CLP1 founder mutation links tRNA splicing and maturation to cerebellar develo...
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2015Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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2021Journal (source)Nat Commun
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
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Journal (source)Nature Communications
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2022Journal (source)Am J Hum Genet
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...