A5088214394- Hemoglobinopathies and Related Disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Prenatal Screening and Diagnostics
- Iron Metabolism and Disorders
- Alzheimer's disease research and treatments
- Nuclear Receptors and Signaling
- Parvovirus B19 Infection Studies
- Epigenetics and DNA Methylation
- CRISPR and Genetic Engineering
- Virus-based gene therapy research
- RNA regulation and disease
- Forensic and Genetic Research
- Neonatal Health and Biochemistry
- RNA Interference and Gene Delivery
- Erythrocyte Function and Pathophysiology
- Cultural Heritage Materials Analysis
- Folate and B Vitamins Research
- Identification and Quantification in Food
Memorial Sloan Kettering Cancer Center
2024-2025
Institut des Maladies Génétiques Imagine
2016-2020
Inserm
2017-2020
Délégation Paris 5
2016-2018
Sorbonne Paris Cité
2016-2018
Université Paris Cité
2016-2018
Délégation Paris 7
2018
Hôpitaux Universitaires Paris-Ouest
2017
Assistance Publique – Hôpitaux de Paris
2017
Museum Conservation Institute
2014
Sickle cell disease results from a homozygous missense mutation in the β-globin gene that causes polymerization of hemoglobin S. Gene therapy for patients with this disorder is complicated by complex cellular abnormalities and challenges achieving effective, persistent inhibition We describe our first patient treated lentiviral vector-mediated addition an antisickling into autologous hematopoietic stem cells. Adverse events were consistent busulfan conditioning. Fifteen months after...
Editing the fetal γ-globin promoters in hematopoietic stem cells from sickle cell disease patients induces therapeutic levels.
Sickle cell disease is characterized by chronic anemia and vaso-occlusive crises, which eventually lead to multi-organ damage premature death. Hematopoietic stem transplantation the only curative treatment but it limited toxicity poor availability of HLA-compatible donors. A gene therapy approach based on autologous lentiviral-corrected hematopoietic progenitor cells was shown be efficacious in one patient. However, alterations bone marrow environment properties red blood hamper harvesting...
Summary Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however few studies have investigated its role neurodegenerative processes such as Alzheimer’s Disease (AD). Here we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present neuronal, glia/stromal cells, or blood, patients with AD comparison to age-matched controls. Notably, microglia-specific AD-associated...
Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however, few studies have investigated its role neurodegenerative processes such as Alzheimer’s disease (AD). Here, we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present neuronal, glia/stromal cells, or blood, patients with AD comparison to age-matched controls. Notably, microglia-specific AD-associated variants...
Autologous transplantation of hematopoietic stem cells transduced with a lentiviral vector (LV) expressing an anti-sickling HBB variant is potential treatment for sickle cell disease (SCD). With clinical trial as our ultimate goal, we generated LV constructs containing transgene (HBBAS3), minimal promoter, and different combinations DNase I hypersensitive sites (HSs) from the locus control region (LCR). Hematopoietic progenitor (HSPCs) SCD patients were LVs either HS2 HS3 (β-AS3) or HS2,...
Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however few studies have investigated its role neurodegenerative processes such as Alzheimer’s Disease (AD). Here we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present neuronal, glia/stromal cells, or blood, patients with AD comparison to age-matched controls. Notably, microglia-specific AD-associated variants...
Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however, few studies have investigated its role neurodegenerative processes such as Alzheimer’s disease (AD). Here, we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present neuronal, glia/stromal cells, or blood, patients with AD comparison to age-matched controls. Notably, microglia-specific AD-associated variants...
Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however few studies have investigated its role neurodegenerative processes such as Alzheimer’s Disease (AD). Here we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present neuronal, glia/stromal cells, or blood, patients with AD comparison to age-matched controls. Notably, microglia-specific AD-associated variants...
Sickle cell disease (SCD) and β-thalassemia are severe anemias characterized by abnormal or reduced production of hemoglobin β-chains. Autologous transplantation genetically corrected hematopoietic stem cells (HSC) is an attractive therapeutic alternative for patients lacking a compatible HSC donor. Naturally occurring, large deletions in the β-globin locus result increased fetal (HbF) expression (HPFH, Hereditary Persistence Fetal Hemoglobin), condition that mitigates clinical severity...