Luigi Daniele Notarangelo, MD
|Hospital Title||Director, Research and Molecular Diagnosis Program on Primary Immunodeficiencies|
|Academic Title||Professor of Pediatrics and Pathology|
1 Blackfan Circle
Boston MA 02115
Dr. Notarangelo's research focuses of the characterization of the molecular and cellular bases of congenital immunodeficiencies as illustrated through the study of human patients and of suitable animal models. In particular, his lab is actively involved in understanding the essential signals that govern development and maturation of T and B lymphocytes. Defects in such processes are often responsible for life-threatening disorders, known as Severe Combined Immune Deficiencies (SCID). In the last years, Dr. Notarangelo and his colleagures have identified novel genetic defects responsible for SCID and other congenital immunodeficiencies in humans, such as SCID due to JAK3 deficiency, Omenn syndrome due to RAG genes defects, Omenn syndrome due to IL7R gene defect, immunodeficiency with hyper-IgM due to CD40L or to CD40 deficiency, isolated X-linked thrombocytopenia, and X-linked lymphoproliferative syndrome. They are also trying to define the genotype-phenotype correlation in such disorders, so that (if such correlation exists) it may be possible to predict the severity of the disease based on the specific gene defect identified in each family.
Dr. Notarangelo is also actively involved in exploiting novel and more effective forms of treatment for children affected with severe forms of congenital immunodeficiencies. In particular, his group has aimed at improving the long-term outcome after hematopoietic stem cell transplantation for SCID and other severe immunodeficiencies through the development of improved pre- and post-transplant strategies of clinical management.
About Luigi Notarangelo
He received an MD degree and completed post-graduate training in Pediatrics, Allergy and Cytogenetics at the University of Pavia. He chaired the Department of Pediatrics at the University of Brescia (Italy) from 2000 to 2006, when he was recruited at Children’s Hospital Boston, where he is Jeffrey Modell Chair of Pediatric Immunology Research, and Professor of Pediatrics and Pathology at the Harvard Medical School. He is member of the Manton Center for Orphan Disease Research. Dr. Notarangelo served as President of the European Society for Immune Deficiencies from 2002 to 2006, and co-chairs the Committee on Primary Immunodeficiencies of the International Union of Immunological Societies. He has participated at gene therapy trials for adenosine deaminase deficiency and is currently site Principal Investigator in a gene therapy trial for X-linked SCID and co-Investigator in a gene therapy trial for the Wiskott-Aldrich syndrome. He has authored more than 370 peer-reviewed manuscripts and several book chapters.
About the lab
The focus of the Notarangelo lab is on the characterization of the molecular and cellular basis of primary immunodeficiencies (PIDs) and on the development of innovative forms of treatment for severe forms of immunodeficiency. In particular, current investigations include the study of patient-derived induced pluripotent stem cells and of other cellular models to understand genotype-phenotype correlation in PID; generation of novel gene-targeted mice to model congenital immunodeficiencies; and, development of novel approaches to gene therapy based on gene editing by means of locus-specific nucleases.
|Kerry Dobbs||Research Technician|
|Kerstin Felgentreff||Research Fellow|
|Francesco Frugoni||Research Technician|
|Yu Nee Lee||Instructor|
|Maxim Lutskyi||Research Fellow|
|Francesca Rucci||Research Fellow|
|Irit Tirosh||Research Fellow|
|Stefano Volpi||Research Fellow|
|Jolan Walter||Research Fellow|
|Katja Weinacth||Research Fellow|
Macchi P., Villa A, Giliani S., Sacco M.G., Frattini A., Porta F., Ugazio A.G., Johnston J.A., Candotti F., O'Shea J., Vezzoni P., Notarangelo L.D.: Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature, 1995, 377:65-68.
Villa A., Santagata S., Bozzi F., Giliani S., Frattini A., Imberti L., Benerini Gatta L., Ochs H.D., Schwarz K., Notarangelo L.D., Vezzoni P., Spanopoulou E.: Partial V(D)J recombination activity leads to Omenn syndrome. Cell 1998, 93:885-896.
- Grunebaum E, Mazzolari E, Porta F, Dallera D, Atkinson A, Reid B, Notarangelo LD, Roifman CM: Bone marrow transplantation for Severe Combined Immune Deficiency. JAMA, 2006, 295:508-518.