| Christian
P. Hamel |
 |
Function
:
MD, PhD, Ophthalmogeneticist, director of the INM and
of the team "Genetics and therapy of retinal blindness", and
the director of the center of reference for the inherited
sensory diseases.
Academic and research
track :
C Hamel had his residency in ophthalmology in Caen (France)
and spent his post doctoral fellowship (5 years) at the National
Institute of Health (USA) in the laboratories of Robert B
Nussenblatt and Gerald Chader. Upon return to France, he
joined Rémy Pujol’s laboratory in Montpellier (INSERM
U254) where he developed research programs on genetics of
the retina and on molecular biology of the inner ear. He was
appointed as an INSERM Chargé de Recherches and later
on became Directeur de Recherches. In the Ophthalmology Department
of Montpellier, he raised an outpatient clinic for hereditary
diseases of the retina and optic nerve and became the medical
coordinator of the Center of Reference for rare diseases “inherited
sensory diseases”. In the 2003, he created with Jean-Luc
Puel, Jean Valmier, Alain Privat and Jean-Philippe Hugnot,
the laboratory entitled “pathophysiology and therapy
of sensory and motor defects” (INSERM U583, INM) whose
he became the director.
Main achievements
:
• During his post doctoral fellowship, he discovered
and described the RPE65 protein (M Redmond’s lab) and,
back to France, he showed that mutations cause a particular
form of Leber congenital amaurosis (Hamel et al., J Biol
Chem 1993 ; Marlhens et al., Nature Genetics 1997). He then
worked in collaboration with F Rolling on the Briard dog
to establish gene therapy for RPE65 patients in Europe (Le
Meur et al., Mol Ther 2007).
• More recently, he showed that a mitochondrial dynamin-related
protein, OPA1, is responsible for the majority of cases of
Kjer disease, one of the leading cause of inherited optic neuropathy (Delettre
and Lenaers et al., Nature Genetics, 2000).
Research interests
:
• Discovery of the genes causing inherited diseases
of the retina and optic nerve, for their extraordinary potential
to improve our understanding of the physiology and pathophysiology
of vision, and more specifically
o characterize the retinal diseases due to impairment of the
visual cycle genes, and how can we modulate the visual cycle
to modify the visual function and the natural history of certain
diseases
o why are retinal ganglion cells vulnerable to certain mitochondrial
defects and how can we act on mitochondrial functions
• Use this knowledge to help patients by providing more
accurate informations, better genetic counselling, and by
planning strategies of treatment.
Selected publications
:
- Hamel CP, Tsilou E, Pfeffer BA, Hooks JJ, Detrick B,
Redmond TM (1993). Molecular cloning and expression of RPE65,
a novel retinal pigment epithelium-specific microsomal protein
that is post-transcriptionally regulated in vitro. J
Biol Chem 268, 15751-15757.
- Marlhens F, Bareil
C, Griffoin J-M, Zrenner E, Amalric P, Eliaou C, Liu S-Y,
Harris E, Redmond TM, Arnaud B, Claustres M, Hamel CP (1997).
Mutations in RPE65 cause Leber’s
congenital amaurosis. Nature Genetics 17,
139-141.
- Delettre C, Lenaers G, Griffoin J-M, Gigarel N,
Lorenzo C, Belenguer P, Pelloquin L, Grosgeorges J, Turc-Carel
C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B,
Ducommun B, Kaplan J, Hamel CP (2000). Nuclear gene OPA1
encoding a mitochondrial dynamin-related protein is mutated
in dominant optic atrophy. Nature Genetics 26,
207-210.
- Hamel CP, Griffoin J-M, Laesquellec L, Bazalgette
C, Arnaud (2001). Retinal dystrophies caused by mutations
in RPE65: assessment of visual functions. Br J
Ophthalmol 85, 424-427.
- Delettre C, Griffoin
J-M, Lenaers G, Belenguer P, Hamel CP (2001). Splicing
variants and spectrum of mutations in the OPA1 gene. Hum Genet 109,
584-591.
- Delprat B, Boulanger A, Wang J, Beaudoin V, Guitton
MJ, Ventéo
S, Dechesne CJ, Pujol R, Lavigne-Rebillard M, Puel J-L, Hamel
CP (2002). Downregulation of otospiralin, a novel inner
ear protein, causes hair cell degeneration and deafness. J
Neurosci 22, 1718-1725.
- Delprat B, Ruel J, Guitton
MJ, Hamard G, Lenoir M, Pujol R, Puel J-L, Brabet P, Hamel
CP (2005). Deafness and cochlear fibrocyte alterations
in mice deficient for the inner ear protein otospiralin. Mol Cell Biol 25,
847-843.
- Kamei S, Chen-Kuo-Chang M, Cazevieille C, Lenaers
G, Olichon A, Belenguer P, Roussignol G, Renard N, Eybalin
M, Micelin A, Delettre C, Brabet P, Hamel CP (2005). Expression
of the Opa1 mitochondrial protein in retinal ganglion cells;
its down regulation causes aggregation of the mitochondrial
network. Invest Ophthalmol Vis Sci 46,
4288-4294.
- Sénéchal A, Humbert G, Surget M-O,
Bazalgette C, Bazalgette C, Arnaud B, Arndt C, Laurent
E, Brabet P, Hamel CP (2006). Screening genes of the retinoid
metabolism: novel LRAT mutation in Leber congenital amaurosis. Am
J Ophthalmol 142, 702-704.
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