• Le 17 October 2018

Research Prize in Pediatric Pathology - Christian NEZELOF - IMAGINE 2018 awarded to Marion Lenglet for her project "Identification of new alteration mechanisms of the VHL (von Hippel-Lindau) gene responsible for VHL or familial erythrocytosis.

The Association  pour  l’Etude  de  la  Pathologie  Pédiatrique  et  l’Institut  des Maladies Génétiques Imagine offer prizes to honour work that contributes to the knowledge of childhood diseases.
This prize is intended for young pediatricians, pathologists, researchers or students at Master, Doctorate or Post-Doctorate level.

On october 2018, this 5,000€ prize was awarded to Marion Lenglet, a PhD student at the University of Nantes for her thesis work directed by Betty Gardie entitled "Identification of new alteration mechanisms of the VHL (von Hippel-Lindau) gene responsible for VHL or familial erythrocytosis".

Her thesis project, carried out within the Emerging Team, aims to identify and characterize the molecular mechanisms that lead to the development of hereditary erythrocytosis. She was particularly interested in the complexity of splicing the VHL gene in which she has identified a new cryptic exon. She was able to identify germline mutations of this new exon in patients with erythrocytosis or VHL disease.

Read more :

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B.
Blood. 2018 Aug 2;132(5):469-483.