February 27 and 28, 2021: a weekend dedicated to rare diseases

On the occasion of the International Rare Diseases Day on Sunday, February 28th, Institut Imagine, together with Hôpital Necker-Enfants malades AP-HP and its rare diseases platform, opens its doors to you virtually. Throughout the weekend, Saturday 27 and Sunday 28 February, we invite you to participate in a dozen online conferences during which you will be able to exchange with researchers, physicians and patient associations on a variety of topics and diseases. Discover also our Institute in video, as well as some research advances explained to children.

Published on

Research Acceleration

JMR 2021
Journée Internationale des Maladies Rares 2021

A rich program of online conferences

The originality and strength of Institut Imagine is to bring together in the same place, around patients, all the expertise in research, clinical research and technology. At the heart of the Necker campus, the Institute benefits from the skills of the physicians, reference centers for rare diseases and affiliated clinical services of the Necker-Phildren's Hôpital Necker-Enfants malades AP-HP and patient associations will gather to answer your questions.

To participate, connect to the conferences you are interested in via this link :

https://us02web.zoom.us/j/89127987789?pwd=T2N6dERxNE8wdXJNUHB2cmlHanJlQT09  

Nº du webinaire : 891 2798 7789

Code secret : 598606

 

Saturday, 27th

10:00-10:45 : Immune deficiencies

With Dr. Frédéric Rieux-Laucat, director of the Immunogenetics of pediatric autoimmune diseases laboratory at Institut Imagine, Prof Despina Moshous, hospital practitioner within the Pediatric Immunology-Hematology Unit of Hôpital Necker-Enfants malades AP-HP et member of the Genome Dynamics and Immune System Laboratory at Institut Imagine

11:00-11:45: Inflammatory bowel diseases in children

With Dr. Nadine Cerf-Bensussan, director of the Intestinal immunity laboratory at Institut Imagine, Prof. Frank Ruemmele, coordinator of the Reference center for rare digestive diseases and Head of the pediatric inflammatory bowel disease at Hôpital Necker-Enfants malades AP-HP, and Anne Buisson, deputy director of the François Aupetit Association (AFA)

12:00-12:45: Genetic ophthalmic diseases and hereditary retinal dystrophies

With Dr Jean-Michel Rozet, director of the ophthalmic genetics laboratory at Institut Imagine, Pr Dominique Brémond-Gignac, coordinator of the OPHTARA rare diseases reference center and head of the ophthalmology department at Hôpital Necker-Enfants malades AP-HP, Dr Matthieu Robert, ophthalmologist, pediatric and adult ophthalmology department at Hôpital Necker-Enfants malades AP-HP, Dr Alejandra Daruich-Matet, ophthalmology department at Hôpital Necker-Enfants malades AP-HP, Luc Licari, director of communications at Retina France Association.

13:00-13:45: Congenital heart disease

With Dr. Audrey Desgrange, post-doctoral fellow in the Heart morphogenesis laboratory at Institut Imagine, Prof. Damien Bonnet, Head of the congenital and pediatric cardiology department at Hôpital Necker-Enfants malades AP-HP, coordinator of the Complex congenital heart defects (M3C) and Inherited heart diseases reference centres, Gaëlle Marguin, Association Petit Coeur de Beurre

15:00-15:45: Rare epilepsies

With Pr Rima Nabbout, neuropaediatrician at Hôpital Necker-Enfants malades AP-HP, head of the reference center for rare epilepsies (CRéER), coordinator of the epilepsy research project in the laboratory for translational research on neurological diseases at Institut Imagine, Sopkon Theo Teng, therapeutic education nurse, Nathalie Rudelle, vice-president of ASTB (Association Sclérose Tubéreuse de Bourneville), Mélissa Cassard, president of KCNB1, Elodie Marie-Conia, vice-president of Alliance syndrome de Dravet

Sunday, 28th

10:00-10:45: Inner language in children with ano-rectal and pelvic deformities and adults in their

With Stéphanie Smadja, lecturer in linguistics and stylistics at Université de Paris, Dr. Célia Crétolle, coordinator of the reference center for rare ano-rectal and pelvic malformations (MAREP) at Hôpital Necker-Enfants malades AP-HP, Dr. Giulia Disnan, clinical psychologist at the reference center for rare ano-rectal and pelvic malformations (MAREP) at Hôpital Necker-Enfants malades AP-HP.

11:00-11:45: Mitochondrial diseases

With Dr. Agnès Rötig, director of the Genetics of mitochondrial diseases laboratory at Institut Imagine, Prof Arnold Munnich, pediatrician, geneticist and President of the Imagine Foundation, Prof Jean-Paul Bonnefont, coordinator of the CARAMMEL Mitochondriopathies reference center - Hôpital Necker-Enfants malades AP-HP, Dr. Giulia Barcia, hospital practitioner in the medical genetics department of Hôpital Necker-Enfants malades AP-HP, member of the neurodevelopmental disorders laboratory at Institut Imagine, Françoise Tissot, vice-president of the AMMI association  

12:00-12:45: Bone diseases

With Dr Laurence Legeai-Mallet, co-director of the molecular and physiopathological bases of osteochondrodysplasies laboratory at Institut Imagine, Prof Valérie Cormier-Daire, medical genetics at Hôpital Necker-Enfants malades AP-HP, coordinator of the reference center for constitutional bone diseases, co-director of the molecular and physiopathological bases of osteochondrodysplasies laboratory at Institut Imagine, and Dr Geneviève Baujat, medical genetics at Hôpital Necker-Enfants malades AP-HP, member of the reference center for constitutional bone diseases, and of the molecular and physiopathological bases of osteochondrodysplasies laboratory at Institut Imagine

13:00-13:45: The genetics of diseases: transmission, advice, tests...

With Prof Stanislas Lyonnet, Director of Institut Imagine, geneticist at Hôpital Necker-Enfants malades AP-HP, former co-director of the genetics and embryology of malformations laboratory at Institut Imagine, and Prof Julie Steffann, hospital practitioner in the genetics department, head of the preimplantation genetic diagnosis laboratory, Hôpital Necker-Enfants malades AP-HP.

14h-14h45: Genetics for children - DNA, genes, the cell

With Elodie Dandelot, PhD in Human Genetics, in charge of animation and training programs at Institut Imagine

15:00-15:45: Sickle cell disease

With Prof Marina Cavazzana, pediatrician, director of the biotherapy department at Hôpital Necker-Enfants malades AP-HP, director of the clinical investigation center for biotherapy, member of the human lymphohematopoiesis research laboratory at Institut Imagine, Dr Jean-Benoît Arlet, coordinator of the reference center for sickle cell diseases at Hôpital Européen Georges Pompidou, member of the molecular mechanisms of hematological disorders and therapeutic implications laboratory at Institut Imagine

16:00-16:45: Neurodevelopmental disorders, intellectual disabilities

With Dr. Valérie Malan, hospital practitioner, cytogenetics department of Hôpital Necker-Enfants malades AP-HP, member of the laboratory of genetic disorders of neurodevelopment at Institut Imagine, Dr. Marlène Rio, hospital practitioner, medical genetics department of Hôpital Necker-Enfants malades AP-HP, coordinator of the reference center for intellectual disabilities of rare causes, Isabelle Marchetti-Waternaux, President of APAC (Association de Porteurs d'Anomalies Chromosomiques).

Discover the Imagine Institute from the inside

As we are unable to open our doors to you this year, we invite you to discover the Institute through a virtual video tour.

 

Science and research advances explained to children

Knowledge transfer and public information are core missions of Institut Imagine. To help children (and grown-ups!) understand the complex and technical subjects of science, research, genetics and genetic diseases, we offer some educational explanations. Discover the mysteries of :