Presentation
Annarita’s main research interests are the transcriptional control of hematopoiesis, and the development of therapeutic approaches to hematologic genetic disorders. As a PhD student with Giuliana Ferrari at TIGET (Italy), she acquired scientific expertise in hematology and in lentiviral (LV) vector technology for the genetic modification of hematopoietic stem cells (HSCs) and other cell types (Bonanomi, J Neurosci. 2005; Cattoglio, Blood, 2007). In this context, she generated a β-globin LV and demonstrated rescue of the thalassemic phenotype in a murine model of the disease (Miccio, PNAS, 2008). This LV has been successfully used in an early clinical trial for β-thalassemia and is currently under clinical development. During her postdoctoral period in Gerd Blobel's lab (CHOP, USA) and later as an assistant professor at University of Modena (Italy), she gained experience in epigenetics and the regulation of gene expression in erythroid development and in evaluating the safety and efficacy of gene therapy approaches for hematopoietic disorders (Miccio, EMBO J, 2010; Miccio and Blobel, Mol Cell Biol., 2010 and Gregory, Miccio, Blood, 2010; Moiani, J Clin Invest. 2012). In 2014, Annarita was appointed as a Lab Director at the Imagine Institute (Paris, France), where she pursued her studies on transcriptional regulation in normal and diseased stem cells and their progeny (Cavazza, Stem Cell Reports, 2016; Romano, Scientific Reports, 2016; Antoniani, Stem Cells Transl Med. 2017; Lagresle-Peyrou, Haematologica, 2018). These basic research studies were instrumental in developing novel LV- and genome editing-based strategies for the treatment of β-hemoglobinopathies. In particular, she has optimized the design of a LV expressing an antisickling transgene that is currently employed in a clinical trial for sickle cell disease expected to start in 2019 (Weber, Mol Ther Methods Clin Dev., 2018). In parallel, she developed CRISPR/Cas9 editing strategies for β-hemoglobinopathies (Antoniani, Blood, 2018; Weber, Science Advances, in press) and optimized the delivery of CRISPR/Cas9 in HSPCs (Lattanzi, Mol Ther. 2018).
Resources & publications
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Journal (source)J Biomed Inform
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
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Journal (source)Am. J. Hum. Genet.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Nat. Genet.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a...
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Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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Journal (source)Nat. Genet.
MMP21 is mutated in human heterotaxy and is required for normal left-right as...
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Journal (source)Am. J. Hum. Genet.
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ...
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Journal (source)Am. J. Hum. Genet.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin...
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Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
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Journal (source)Nat. Genet.
Highly conserved non-coding elements on either side of SOX9 associated with P...
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Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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Journal (source)Hum. Mol. Genet.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multi...
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Journal (source)Neuroimage Clin
Anatomical and functional abnormalities on MRI in kabuki syndrome.
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Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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Journal (source)Am. J. Hum. Genet.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
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Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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Journal (source)Blood
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl...
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Journal (source)Am J Hum Genet
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spec...
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Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
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Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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Journal (source)Clin Genet
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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Journal (source)Am J Hum Genet
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellec...
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Journal (source)J Clin Invest
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g...
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Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
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Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Am J Hum Genet
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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Journal (source)Am J Hum Genet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
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Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E2 receptors as potential first in class treatment ...
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...