Véronique is the mother of a little boy of almost 12 years old who has BBS6 and lives in France in the Drôme Provençale. After a career in the press and then in Real Estate, Véronique had to give up her professional activity to stay close to her son with special needs. Appointed President of the Bardet Biedl France Association in 2018, she and her team are working to increase awareness of the syndrome and to raise funds and interact with the various French doctors in charge of research for BBS.
Francis leaves in France, he is an engineer and has participated in several international medical congresses, preparing abstracts for those who were unable to attend. He understands 11 languages and is the father of a 30 years old girl with BBS10.
Vice-president of BBS Italy. Association created in 2009 with 30 registered families.Patricia is a teacher, she is bilingual English/Italian and mother of Christopher, 31 years old, diagnosed with BBS 25 years ago by Phil Beales.
Grégory is Treasurer of the association Bardet-Biedl France. He also suffers from the syndrome.
Grégory lives in France and has his own company specialising in the field of event organisation (weddings, birthdays, lighting, etc.).
The Board OF DIRECTORS
Tim is Managing Director of the Financial Access Initiative. He is also Managing Director of the US Financial Diaries project.
Tim is the President of the Bardet Biedl Association USA. He is the father of Nathanael, a 14-year-old carrier of the syndrome.
Bendert DE GRAAF
Operations Manager at CCIC EUROPE Food Test BV Kampen (Overijssel), Province of Flevoland, The Netherlands.
Bendert is the president of the Bardet-Biedl Stichting Association and father of a little boy with the syndrome.
Tonia is the Service Manager for BBS UK Clinics Ltd. Tonia has two grown-up children, Daniel and Connor and lives in Harwich in Essex. The family attended their first conference in 1998 following the diagnosis of their son, Daniel, and were so grateful to the young people and adults with the syndrome for enabling them to picture a positive future. Tonia was happily coerced onto the Committee, where she stayed for the next 15 years, taking on the role of Fundraising Co-ordinator and then Newsletter Editor. Tonia assisted with the inception and development of the specialised BBS Clinics and was Children’s Service Manager from 2010 to 2017, when she took on the role of Service Manager.
The SCIENTIFIC ADVISORS
Phil Beales is head of Genetics and Genomic Medicine at ICH, Director of the Centre for Translational Genomics (GOSGENE) and head of the Cilia Disorders Laboratory (CDL). His research interests centre on rare diseases, especially the ciliopathies, a class of disorders caused by defects in the formation or function of the cilium.
Hélène Dollfus is University Professor and Hospital Practitioner (PU-PH) in medical genetics and ophthalmology. Head of the Medical Genetics Department at the University Hospitals of Strasbourg (HUS), she coordinates the CARGO (Affections rares en génétique ophtalmologique) reference center, as well as the SENSGENE national rare disease network. Director of the Medical Genetics Laboratory (Inserm/Unistra), she is also the driving force behind the Institut de Génétique Médicale d'Alsace (IGMA). Chairwoman of the Scientific Advisory Board of the Retina France patients' association. Hélène Dollfus is also coordinator of ERN-EYE, the European reference network for rare eye diseases.