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.

Researcher Services

Researcher Areas

  • Congenital Sideroblastic Anemias
  • Erythropoiesis
  • Heme biosynthesis
  • Protoporphyrias

Research Departments

PUBLICATIONS

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  1. Guillem F, Dussiot M, Colin E, Suriyun T, Arlet JB, Goudin N, Marcion G, Seigneuric R, Causse S, Gonin P, Gastou M, Deloger M, Rossignol J, Lamarque M, Bellaid Choucair Z, Gautier EF, Ducamp S, Vandekerckhove J, Moura IC, Maciel TT, Garrido C, An X, Mayeux P, Mohandas N, Courtois G, Hermine O. XPO1 regulates erythroid differentiation and is a new target for the treatment of ß-thalassemia. Haematologica. 2019 Nov 21. View abstract
  2. Ducamp S, Fleming MD. The molecular genetics of sideroblastic anemia. Blood. 2019 01 03; 133(1):59-69. View abstract
  3. Ladli M, Richard C, Aguilar LC, Ducamp S, Bondu S, Sujobert P, Tamburini J, Lacombe C, Azar N, Foretz M, Zermati Y, Mayeux P, Viollet B, Verdier F. Finely-tuned regulation of AMP-activated protein kinase is crucial for human adult erythropoiesis. Haematologica. 2019 05; 104(5):907-918. View abstract
  4. Park S, Kosmider O, Maloisel F, Drenou B, Chapuis N, Lefebvre T, Karim Z, Puy H, Alary AS, Ducamp S, Verdier F, Bouilloux C, Rousseau A, Jacob MC, Debliquis A, Charpentier A, Gyan E, Anglaret B, Leyronnas C, Corm S, Slama B, Cheze S, Laribi K, Amé S, Rose C, Lachenal F, Toma A, Pica GM, Carre M, Garban F, Mariette C, Cahn JY, Meunier M, Herault O, Fenaux P, Wagner-Ballon O, Bardet V, Dreyfus F, Fontenay M. 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
  5. Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH. 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
  6. Gautier EF, Ducamp S, Leduc M, Salnot V, Guillonneau F, Dussiot M, Hale J, Giarratana MC, Raimbault A, Douay L, Lacombe C, Mohandas N, Verdier F, Zermati Y, Mayeux P. Comprehensive Proteomic Analysis of Human Erythropoiesis. Cell Rep. 2016 08 02; 16(5):1470-1484. View abstract
  7. Fratz EJ, Clayton J, Hunter GA, Ducamp S, Breydo L, Uversky VN, Deybach JC, Gouya L, Puy H, Ferreira GC. 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
  8. Oustric V, Manceau H, Ducamp S, Soaid R, Karim Z, Schmitt C, Mirmiran A, Peoc'h K, Grandchamp B, Beaumont C, Lyoumi S, Moreau-Gaudry F, Guyonnet-Dupérat V, de Verneuil H, Marie J, Puy H, Deybach JC, Gouya L. Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria. Am J Hum Genet. 2014 Apr 03; 94(4):611-7. View abstract
  9. Ducamp S, Schneider-Yin X, de Rooij F, Clayton J, Fratz EJ, Rudd A, Ostapowicz G, Varigos G, Lefebvre T, Deybach JC, Gouya L, Wilson P, Ferreira GC, Minder EI, Puy H. 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
  10. Livideanu CB, Ducamp S, Lamant L, Gouya L, Rauzy OB, Deybach JC, Paul C, Puy H, Marguery MC. Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly. J Invest Dermatol. 2013 Jun; 133(6):1688-90. View abstract
  11. To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood. 2011 Aug 11; 118(6):1443-51. View abstract
  12. Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B. 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
  13. Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H. 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