Pr Hélène Dollfus – Strasbourg University Hospitals – France
Pr Hélène Dollfus, MD, PhD, is a specialist in Medical Genetics and Ophthalmology. She is the head of the Medical Genetics Department at the Strasbourg University Hospital (HUS). She is the coordinator of the Rare Diseases in Ophthalmic Genetics Reference Center (CARGO). She coordinates the French rare diseases network dedicated to rare genetic sensory disorders FSMR SENSGENE. Since 2017, she is the coordinator of ERN-EYE, the European Reference Network dedicated to Rare Eye Diseases. Hélène Dollfus is also head of the Medical Genetics Research Laboratory INSERM -Université de Strasbourg UMRS_1112 and of the Institute of Medical Genetics of Alsace (IGMA). Her research focuses on genomic, pathogenesis and therapeutic aspects of rare syndromic retinal dystrophies including ciliopathies. As part of the European network endeavour, she leads the “SeeMyLife” project, focused on the quality of life for visually impaired children in Europe.
Current positions
- Professor and Consultant at the University Hospital of Strasbourg (Hôpitaux Universitaires de Strasbourg; HUS): Professeur des Universités-Praticien Hospitalier (PU-PH)
- Head of the UMRS_1112 research laboratory “Laboratoire de génétique médicale” (mixted INSERM & Université de Strasbourg)
- Head of the Medical Genetics Department of the University Hospital of Strasbourg (HUS)
- Coordinator of the rare diseases center for rare eye diseases “Centre de Référence National Maladies Rares (CRMR) pour les Affections Rares en Génétique Ophtalmologique” (CARGO) (HUS)
- Coordinator of the national network for rare sensorial diseases
“Filière de Santé Maladies Rares (FSMR) maladies sensorielles”: FSMR SENSGENE - Coordinator of the European Reference Network for rare eye diseases: ERN-EYE
Five most relevant and important publications
1. Kröll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bär S, Takamiya M, Kawakami K, Zieba, BA, Studer F, Pelletier V, Eyermann C, Speeg-Schatz C, Laugel V, Lipsker D, Sandron F, McGinn S, Boland A, Deleuze JF, Kuhn L, Chicher J, Hammann P, Friant S, Etard C, Krüger E, Muller J, Strähle U, Dollfus H. Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. EMBO Mol Med. 2020 Jul 7;12(7):e11861. PMID: 32500975.
2. Stoetzel C, Bär S, De Craene JO, Scheidecker S, Etard C, Chicher J, Reck JR, Perrault I, Geoffroy V, Chennen K, Strähle U, Hammann P, Friant S, Dollfus H. A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi Nat Commun.. 2016 Nov 24;7:13586. doi: 10.1038/ncomms13586. PMID: 27882921;
3. Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strähle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H.Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. Am J Hum Genet. 2015 Apr 2;96(4):666-74. PMID: 25817018
4. Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet. 2007 Jan;80(1):1-11 PMID: 17160889;
5. Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet. 2006 May;38(5):521-4 PMID: 16582908
Honors and awards
- 2017-2022: 5 major grants as CONSORTIUM PI (API, PFMG DEFIDIAG , EJPR-RD, NVX EPIGENRET) – LOCAL PI for 5 trials (ProQr, Rhytm, IMAGINE, SECOND SIGHT) & 6 associate investigator for HUS & INSERM (national & international)
- 2022: Special recognition award of RETINA international PUBLICATION ACTIVITY: H Index: 64 – SIGAPS (from 1995): 2569 RESEARCH ACTIVITY
- 2018: Christian Hamel Award of the SGOF
- 2016: Médaille d’argent du mérite Typhophile (Fédération des Aveugles de France)
- 2015: Prix Fond’action Alsace 2016: Officier de l’Ordre National du Mérite
- 2014: Prix recherche INSERM 2014: Membre Senior de l’Institut Universitaire de France (IUF)
- 2011: Chevalier de l’Ordre de la Légion d’Honneur 2014: Grand Prix Robert Debré
- 2007: Médaille Claude Worth. Prix international de la société Britannique d’Ophtalmo-pédiatrie. 2009 : Prix de la Fondation Dalloz (Institut de France).
- 2006 : Prix Régional Alsace de la Fondation pour la Recherche Médicale (FRM)