Fiche médico-technique génétique (Grandchamp)

DHU FIRE
Fibrosis, inflammation and Remodeling
In Cardiovascular, Renal and Respiratory Diseases
Information file
Name of the partner Biochimie B hormonologie et génétique (UF de Génétique)
Localisation Hôpital Bichat-Claude Bernard, 75018 Paris
Coordinator Bernard GRANDCHAMP
Association with a Research Structure INSERMU773
Staff :
PUPH : 2
Prof Associés
Internes
MCUPH : 1
PH : 1
CCA/AHU…..
PHC : 1
HdR : 2
Area of Expertise
The laboratory of genetics is in charge of the diagnosis of rare monogenic disorders
(hemochromatosis, rare microcytic anemias, inherited diseases of the Phosphate-calcium metabolism,
inherited predisposition to cutaneaous malignancies,,CGD disorders, and more relevant for DHU
CARE: monogenic predisposition to diabetes (MODY) and familial idiopathic pulmonary fibrosis…).
Our main project, as participant to the DHU CARE is to study the genetic basis of fibrosis in
relationship with genetic disorders of the length of telomeres. Mutation in the telomerase gene TERT
or associated RNA TERC are found in about 30% of familial idiopatic pulmonary fibrosis(IPF) though
more affected subjects have shortened telomeres in blood cells. Our aims are to identify additional
genes in IPF as well as to better define the genotype-phenotype relationships in order to improve the
genetic counselling and care fro the patients and their relatives.
Activity during the last 4 years
1.
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3.
4.
Nombre de publications : 73
Nombre de thèses soutenues : 1
Nombre de brevets déposés : 0
Financements obtenus hors financements récurrents institutionnels (publics, privés, associatifs,
européens, etc…
1 PHRC, 1 European grant ‘E-RARE’
5. Coordination de réseaux nationaux ou internationaux, d’essais thérapeutiques,
6. Coordination d’enseignements universitaires ou extra-universitaires (master, doctorat, DU, DIU,
…)
Master1 mention génétique (Bernard Grandchamp), DIU oncogénétique (Nadem Soufir)
Ten Main Publications within the last 5 years
1. Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, et al. Missense SLC25A38
variations play an important role in autosomal recessive inherited sideroblastic anemia.
Haematologica 2011;96:808-13.
2. Denamur E, Delezoide AL, Alberti C, Bourillon A, Gubler MC, Bouvier R, et al. Genotypephenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney
disease. Kidney Int 2010;77:350-8.
3. Di Lucca J, Guedj M, Descamps V, Bourillon A, Dieudé P, Saiag P, et al. Interactions between
ultraviolet light exposure and DNA repair gene polymorphisms may increase melanoma risk. Br J
Dermatol 2010;162:891-3.
4. Pico F, Jacob MP, Labreuche J, Soufir N, Touboul PJ, Benessiano J, et al. Matrix
metalloproteinase-3 and intracranial arterial dolichoectasia. Ann Neurol 2010;67:508-15.
5. Silvestri L, Guillem F, Pagani A, Nai A, Oudin C, Silva M, et al. Molecular mechanisms of the
defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency
anemia. Blood 2009;113:5605-8.
6. Dumont B, Lasne D, Rothschild C, Bouabdelli M, Ollivier V, Oudin C, et al. Absence of collageninduced platelet activation caused by compound heterozygous GPVI mutations. Blood
2009;114:1900-3.
7. Kannengiesser C, Gérard B, El Benna J, Henri D, Kroviarski Y, Chollet-Martin S, et al. Molecular
epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31
novel mutations. Hum Mutat 2008;29:E132-49.
8. Guillem F, Lawson S, Kannengiesser C, Westerman M, Beaumont C, Grandchamp B. Two
nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency.
Blood 2008;112:2089-91.
9. Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, et al. 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;83:408-14.
10. Karim Z, Gérard B, Bakouh N, Alili R, Leroy C, Beck L, et al. NHERF1 mutations and
responsiveness of renal parathyroid hormone. N Engl J Med 2008;359:1128-35.
Significant productivity indexes
Score SIGAPS sur 4 ans 2007-2010 = 1011
Participation or coordination of a Reference center