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