Program 2017

8h30 – 8h50    Registration

 

8h50 – 9h00   Welcoming speech by Clarisse Ganier (President of the YR2I association)

                          Opening speech by Arnold Munich

 

 9h00 – 10h00    Session 1

Amine Bouafia A human primary antibody deficiency caused by impaired RhoA activity in lymphocytes as a result of mutations in ARHGEF1
Lara De Tomasi Identification of GREB1L as a novel causative gene for bilateral kidney agenesis
Sabrina Mechaussier Dominant mutations in tubulin cause sensorineural disease with severe retinal dystrophy and hearing loss
Michel Portafax Identification of a super-enhancer regulating the expression of KIT gene during human erythroid development

 

10h00 – 10h15  Pitch Poster #1

 

10h15 – 10h45      Coffee Break

 

10h45 – 11h45  Session 2

David Boutboul IKZF1 dominant negative mutations cause Combined Immune Deficiency with myeloid defects in humans
Akira Cortal MCXpress: An R Package for functional interpretation of single cell RNA-Seq data using multivariate analysis
Jing Xie 3D quantification of heart defects in a mouse model of ciliopathy
Mathilde Lamarque BID Cleavage Is a Novel Check-point of Human Erythroid Terminal Differentiation

 

11h45– 12h00   Pitch Poster #2

 

12h00 – 14h00      Lunch and Posters session

 

14h00 – 15h00  Jean-Jacques Hublin

Professor of Evolutionary anthropology at Max Planck institute of Leipzig

Honorary professor and International Chair of Paleoanthropology at the Collège de France

 

15h00 – 16h00  Session 3

Vivien Béziat Novel autosomal recessive deficiency in patients with chronic mucocutaneous candidiasis and severe eczema
Daniel Medina-Cano Proteomic consequences of a protein N-glycosylation defect in the developing brain
Nadjet Gacem Post-transcriptional regulation during the normal and pathological neural crest development
Sarah Winter Epstein-Barr virus susceptibility and defective T-cell proliferation in humans with inherited RASGRP1 deficiency

 

16h00 – 16h30      Coffee Break

 

16h30 – 17h30  Session 4

Claire Leveau A role of Ttc7a in haematopoiesis and immune homeostasis
Marie Dupont Novel IFT52 mutations in human ciliopathies uncover a new role of the protein in centriole cohesion
Maxence Cornille Phenotypic study of the first mouse model for Crouzon syndrome with acanthosis nigricans
Magda Cannata Serio Mutations in ATP6AP2 are associated to congenital disorders of glycosylation with autophagic defects

 

17h30 – 18h30  Shelly Masi

Primatologist and associate professor of National Museum of Natural History

 

18h30     Cocktail, awards and closing party

YR2I calendar

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