First BPAN disease symposium in France

The ENS of Lyon, the Association Autour du BPAN gather to organize the first symposium on BPAN disease in Lyon, France. This international symposium will bring together patient organization, scientific and medical experts to share the latest research in the field and to foster networking opportunities on BPAN disease research.

Keynote Speaker

Susan J. Hayflick

Oregon Health & Science University Hospital, USA

Susan Hayflick, MD completed training in medical genetics at Johns Hopkins in Baltimore and joined the faculty at Oregon Health & Science University in 1993. Dr. Hayflick is a professor of Molecular and Medical Genetics, Pediatrics, and Neurology and chair of the Department of Molecular and Medical Genetics. She has led a research program on neurodegeneration with brain iron accumulation disorders (NBIA) for more than 30 years. Her group’s achievements in basic, translational, and clinical science include: discovering 6 disease genes (PANK2, PLA2G6, FA2H, WDR45, MECR, and SLC39A14); delineating their associated disease phenotypes including molecular, biochemical, and cellular pathophysiologies, and clinical natural histories; developing new clinical molecular diagnostics; creating animal models of disease; and developing rational therapeutics for inborn errors of coenzyme A biosynthesis and related disorders. She is clinically active as a medical geneticist in direct patient care and laboratory diagnostics, with ABMGG certification in Clinical Genetics, Biochemical Genetics, and Molecular Genetics.

Invited Speakers

Ricardo Escalante

Instituto de Investigaciones Biomédicas Alberto Sols, Spain

Dr Ricardo Escalante started his scientific career at the University of Valencia, Spain, where he did his undergraduate thesis on the gene expression of transferrin in the mammary gland of the rat and its regulation by estrogens (1990). Later he moved to Madrid (Spain), where he did his PhD Thesis on the study of gene expression during the development of the crustacean Artemia franciscana at the Instituto de Investigaciones Biomédicas (IIBM) (1994). Subsequently, he carried out two postdoctoral stays, first at the University of San Diego (USA) and then at the IIBM (Spain), studying the developmental mechanisms of the social amoeba Dictyostelium discoideum (1995-2006). In 2007 he obtained a permanent position at the IIBM (Spain) and focused his interest on the mechanisms of autophagy, using Dictyostelium and cultured mammalian cells as biomedical models of rare diseases, specifically chorea-acanthocytosis and BPAN.

Mario Mauthe

University of Groningen, Netherland

Dr. Mario Mauthe is a senior scientist at the Department of Biomedical Sciences of Cells and Systems at the University Medical Center in Groningen, the Netherlands. His research focus lies in the mechanism and regulation of autophagy under physiological and pathological conditions. He is specifically interested in the relevance of autophagy in neurodegenerative diseases. He obtained his PhD at the University of Tuebingen, Germany on studying the role of WIPI1 and WIPI2 in the regulation of autophagy. Afterwards he joined the laboratory of Prof. Reggiori in the Netherlands. His research now focuses on understanding the contribution of autophagy, in particular the WIPI proteins, in specific pathologies. Because WDR45/WIPI4 belongs to the WIPI protein family and is associated with BPAN, he is now focusing his research on this disease to exploit autophagy as a potential treatment venue for BPAN. Furthermore, he is studying at the molecular level how autophagy, and more specifically a selective type of autophagy called aggrephagy, contributes to the clearance of protein aggregates, a hallmark of numerous neurodegenerative disorders.

Organizing Committee

Gaetan Lesca

HCL, Lyon

Member of the scientific council of the association Autour du BPAN, Professor Gaëtan LESCA is a geneticist at the Hospices Civils de Lyon and professor of genetics at the Lyon Est faculty (Université Claude Bernard Lyon 1). It is involved in the genetic diagnosis of neurodevelopment disorders and in particular epilepsies, brain malformations and intellectual disabilities. He also carries out research activities at the CHU and within the NeuroMyoGène Institute. He has contributed to the identification of several genes involved in these diseases and to numerous works on the characterization of genotype-phenotype correlations.

Bertrand Mollereau

LBMC, ENS de Lyon

cPr. Bertrand Mollereau is the head of the Apoptosis and Neurogenetics group at the Laboratory of Molecular Biology of the Cell at Ecole Normale Supérieure de Lyon (ENSL). In 1997, Dr. Mollereau received his Ph.D. on Immunology from the University of Paris XI in the laboratory of Anna Senik. He then conducted post-doctoral research with Dr. Claude Desplan in the Laboratory of Molecular Genetics at Rockefeller and New York Universities. In 2001, Dr. Mollereau was appointed Research Assistant Professor in the Strang Laboratory of Apoptosis and Cancer Biology under Dr. Hermann Steller at the Rockefeller University, USA. There, he obtained NIH grant support and headed a junior research group to study photoreceptor development and apoptosis in Drosophila. Dr. Mollereau joined the faculty as professor at the Ecole Normale Supérieure de Lyon in autumn 2006. In 2008, his group was awarded the ATIP (CNRS) and Fondation pour la Recherche Medical Equipe programmes. His group is interested in understanding the mechanism of cell death and pathophysiology of neurodegenerative diseases using Drosophila and mouse models.

Ludivine Walter

LBMC, ENS de Lyon

Ludivine Walter is an Assistant Professor at Claude Bernard Lyon 1 University. She received her Ph. D in Physiology, Nutrition and Physiopathology from Paris VII University under the mentorship of Pr Eric Fontaine. Immediately following her Ph. D, she completed a post doctoral training in Pr. Gyorgy Hajnoczky's lab at the Jefferson Medical School inm Philadelphia, USA. Subsequently, she started using model organism in Pr Sylvia Lee's lab at Cornell University, Ithaca, USA, where she was awarded a United Mitochondrial Disease Fellowship to work on mitochondria in aging processes in the nematode C. elegans. An ERG Marie Curie fellowship allowed to pursue her research in Hugo Aguilaniu's lab. She joined Bertrand Mollereau's lab in 2016 to study the role of the mitochondria in cell death and physiopathology. She teaches undergraduate and graduate classes in molecular biology and genetics.

Program

Day One, Clinical and scientific program (in English)

Friday, May 13th, 2022

CHECK-IN

Check-in and coffee

9:00am - 10:00am

Autour du BPAN

Introduction

10:00am - 10:15am

Ricardo Escalante (IIB, Madrid, Spain)

Autophagy and ER stress in BPAN: insights from the Dictyostelium model

10:15am - 11:00am

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Marion Celle (ENS Lyon, France)

Establishing a Drosophila model of BPAN disease

11:00am - 11:30am

Coffee Break

11:30am - 12:00am

Olivier Vincent (IIB, Madrid, Spain)

Objet de la presentation

11:45am - 12:15am

Mario Mauthe (University of Groningen, Netherland)

Charaterization of the molecular functions of WDR45

12:00am - 12:45am

The WDR45 gene is localized on the X-chromosome and different variants in this gene are causative for the neurodegenerative disorder BPAN (ß-propeller protein associated neurodegeneration). WDR45/WIPI4 is a WD-repeat β-propeller protein that belongs to the WIPI (WD repeat domain, phosphoinositide interacting) family. The precise cellular function of WDR45 is still largely unknown, but deletions or variants in WDR45 can lead to macroautophagy/autophagy defects, malfunctioning mitochondria, endoplasmic reticulum stress and unbalanced iron homeostasis, suggesting that this protein functions in one or more pathways regulating directly or indirectly those processes. Our laboratory is studying the molecular functions of WDR45, particularly in autophagy and mitochondrial homeostasis, using a variety of cellular systems.

Lunch Break

12:45pm – 2:15pm

Autour du BPAN

Introduction

2:15pm - 2:30pm

Arcangela Iuso (Institute of Human Genetics, Germany)

A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse

2:30pm – 3:00pm

Apostolos Papandreou (University College, London, UK)

Small molecules restore autophagy flux on high-content screening in an iPSC-derived neuronal model of Beta-Propeller Protein-Associated Neurodegeneration (BPAN)

3:00pm – 3:30pm

Coffee Break

3:30pm – 4:00pm

Susan Hayflick (Oregon Health & Science University, USA)

The research landscape for BPAN

4:00pm – 5:00pm

Round table and conclusions

Objet de la presentation

5:00pm – 5:30pm

To Be Announced

Objet de la presentation

5:45pm – 6:15pm

Beer session

General discussion

5:30pm – 6:30pm

End of first day

06:30pm

Gala Dinner Brasserie Georges

08:00pm

30 Cours de Verdun Perrache, 69002 Lyon
Subway line A- Perrache station

Day Two, Families program (in French)g

Saturday, May 14th, 2022

CHECK-IN

Check-in and Coffee

8:30am - 9:15am

Autour du BPAN

Introduction

9:15am - 9:30am

Bertrand Mollereau (ENS Lyon, France)

Recent Scientific Advances in BPAN Disease

9:30am - 10:00am

Gaetan Lesca (HCL, Lyon, France)

BPAN: genetic aspects and translational research

10:00am - 10:30am

Coffee Break

10:30am - 11:00am

Lunch on your ownf

12:30pm – 2:00pm

Stephane Thobois (HCL, Lyon, France)

Deep brain stimulation and dystonia

11:00am – 11:30am

Alexandra Benchoua/Joanna Tournois (I-Stem, Evry, France)

Objet de la presentation

11:30am – 12:00am

JP Lasserre (University of Bordeaux, France)

The baker yeast used as a model to study the pathology of the human rare disease BPAN

11:30am – 12:00am

Pauline Burger (Genida, France)

GenIDA - participatory database to know the natural history and comorbidities of genetic forms of Neurodegenerative Disorders

12:00am – 12:20am

Round table and conclusions

General discussion

12:20am – 12:45am

End of meeting

12:45am

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	Optionnal : Access to the diner : cost 45.00 €
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Affiliation:
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	Access to the first day : cost 45.00 €
	Optionnal : Access to the diner : cost 45.00 €
	Access to the second day : cost 12.00 €

First Name:
Name:
Affiliation:
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	Access to the first day : cost 45.00 €
	Optionnal : Access to the diner : cost 45.00 €
	Access to the second day : cost 12.00 €

First Name:
Name:
Affiliation:
Email:
	Access to the first day : cost 45.00 €
	Optionnal : Access to the diner : cost 45.00 €
	Access to the second day : cost 12.00 €

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Access to the first day		45.00 €
Access to the diner		45.00 €
Access to the second day		12.00 €

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