ABOUT THE RESEARCHER

OVERVIEW

Sarah Ducamp’s research is focused on identifying new genes responsible for Congenital Sideroblastic Anemias (CSAs) and on developing new models of these diseases using different approaches such as genome editing. CSAs’ genes are involved in different mitochondrial pathways, including heme biosynthesis, iron-sulfur cluster assembly, oxidative phosphorylation and translation. Sarah aims to understand why iron accumulates inside the mitochondria of CSAs patients’ erythroid cells and to develop new strategies to cure those diseases.

BACKGROUND

Sarah Ducamp earned her PhD in 2011 at the Pierre and Marie Curie University in Paris, France. Her thesis was conducted in the Beaumont Lab and notably allowed the identification of new genes responsible for erythropoietic protoporphyria (EPP). After her defense, she joined the Mayeux Lab at the Cochin Institute in Paris and focused her research on human normal and pathological erythropoiesis. In 2016, she joined the Fleming Lab to continue her work on rare inherited and erythroid diseases at Boston Children’s Hospital. Meanwhile, Sarah also joined the BCH Postdoctoral Association. She served as co-chair of the Career Development Committee for 18 months, and she is currently co-chair of the Public Affair Committee.

PUBLICATIONS

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  1. A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria. Haematologica. 2021 07 01; 106(7):2030-2033. View abstract
  2. p53 activation during ribosome biogenesis regulates normal erythroid differentiation. Blood. 2021 01 07; 137(1):89-102. View abstract
  3. Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. J Clin Invest. 2020 10 01; 130(10):5245-5256. View abstract
  4. Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria. Genet Med. 2021 01; 23(1):140-148. View abstract
  5. XPO1 regulates erythroid differentiation and is a new target for the treatment of ß-thalassemia. Haematologica. 2020 09 01; 105(9):2240-2249. View abstract
  6. XPO1 regulates erythroid differentiation and is a new target for the treatment of ß-thalassemia. Haematologica. 2019 Nov 21. View abstract
  7. The molecular genetics of sideroblastic anemia. Blood. 2019 01 03; 133(1):59-69. View abstract
  8. Finely-tuned regulation of AMP-activated protein kinase is crucial for human adult erythropoiesis. Haematologica. 2019 05; 104(5):907-918. View abstract
  9. Dyserythropoiesis evaluated by the RED score and hepcidin:ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromes. Haematologica. 2019 03; 104(3):497-504. View abstract
  10. Mutation in human CLPX elevates levels of d-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proc Natl Acad Sci U S A. 2017 09 19; 114(38):E8045-E8052. View abstract
  11. Comprehensive Proteomic Analysis of Human Erythropoiesis. Cell Rep. 2016 08 02; 16(5):1470-1484. View abstract
  12. Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release. Biochemistry. 2015 Sep 15; 54(36):5617-31. View abstract
  13. Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria. Am J Hum Genet. 2014 Apr 03; 94(4):611-7. View abstract
  14. Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP). Hum Mol Genet. 2013 Apr 01; 22(7):1280-8. View abstract
  15. Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly. J Invest Dermatol. 2013 Jun; 133(6):1688-90. View abstract
  16. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood. 2011 Aug 11; 118(6):1443-51. View abstract
  17. Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. Hum Mutat. 2011 Jun; 32(6):590-7. View abstract
  18. [Inheritance in erythropoietic protoporphyria]. Pathol Biol (Paris). 2010 Oct; 58(5):372-80. View abstract
  19. Excessive erythrocyte PPIX influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria. Cell Mol Biol (Noisy-le-grand). 2009 Feb 16; 55(1):45-52. View abstract
  20. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet. 2008 Sep; 83(3):408-14. View abstract
  21. Similarity of the 5' and 3'-TAR secondary structures in HIV-1. Biochem Biophys Res Commun. 1993 Sep 15; 195(2):565-73. View abstract
  22. [Computer-assisted diet therapy in pediatric kidney diseases]. Pediatrie. 1989; 44(3):197-202. View abstract