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