Celebrating Research
The dictionary defines a "Hall of Fame" as a group of people whose achievements in a particular field are at the highest level. This year Rare Disease Day will be the occasion to highlight the achievements of outstanding scientists whose work has helped advance rare disease research. Read on to find out who has been nominated to the 2010 Rare Disease Hall of Fame. To nominate a researcher please fill out this form
(Please note: the hall of fame is not open to nominations from Industry).
Dr. Asbjørn Følling
Phenylketonuria (PKU)
Dr Richard Paisey
Alstrom Syndrome
Dr Graham Wallace BSc, PhD
Behcets Disease
Dr. Christian Beetz
Hereditary Spastic Paraplegia (HSP)
Prof Dr. Christian de Duve
Metabolic Diseases
Dr. Matthew Meyerson
Carcinoid and related Neuroendocrine Tumors
Dr. Paola Leone
Canavan Disease
Huda Y. Zoghbi, MD
Rett syndrome
Edwin Weeber PhD.
Angelman Syndrome
Prof. Ludmila A Livshits
Spinal Muscular Atrophy
Dr. Ian Krantz
Pallister-Killian Syndrome
Prof John Hopwood
lysosomal storage disorders
Michael Collins, MD
McCune-Albright Syndrome and Fibrous Dysplasia
Professor Claude Hamonet
Ehlers Danlos Syndrom (EDS)
Prof Robin Anthony Eady, DSc, FRCP, FMedSci
Epidermolysis Bullosa
Pr. Guy GOROCHOV
Elapsing Polychondritis
Professor Julian Sampson
Tuberous Sclerosis Complex
Dr Petrus deVries
Tuberous Sclerosis
Olivier DANOS, PhD
Mucopolysaccharidosis type 3 (LSD)
Jerry Schneider, M.D
Cystinosis
Prof Dr Jaak Jaeken
congenital disorder of glycosylation syndoms (CDGS)
Prof Dr. Gert Matthijs
congenital disorder of glycosylation syndoms (CDGS)
Dr. Dumitru Moldovan
Hereditary angioedema (HAE)
Arnold Munnich
Mitochondrial diseases
Luca Richeldi, MD PhD
Interstitial Lung Diseases | Pulmonary Infections
Dr. Karen Herbst
Dercums Disease
Professor John Rosendahl Østergaard
Angelman Syndrome
Jean Weissenbach
Les premières cartes du génome humain
Daniel Cohen
Les premières cartes du génome humain
Prof Alain Fischer
Les déficits immunitaires
Prof Marina Cavazzana Calvo
Les déficits immunitaires
Dr Maria Grazia Roncarolo
Les déficits immunitaires
Fabienne Rolling
L’amaurose de Leber
Prof Nicolas Lévy
La progéria
Prof Patrick Aubourg
L'adrénoleucodystrophie
Nathalie Cartier
L'adrénoleucodystrophie
Marc Peschanski
Maladies génétiques de la peau
Peter Merkel, , M.D, M.P.H
Churg Strauss Syndrome and Vasculitis
Britta Berglund
Ehlers-Danlos syndrome (EDS)
Michael R. Knowles, MD
primary ciliary dyskinesia
Professor Helmut Gadner
Langerhan’s Cell Histiocytosis (child cancer)
Dr. Ségolène Aymé
All Rare Diseases
Dr Etienne MORNET
Hypophosphatasia, a very rare genetic disease of bone and tooth
M. Alan Permutt, M.D.
Wolfram syndrome