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Research

Albinism is a condition for which there is currently no treatment. People with albinism are born and remain visually impaired all their lives.

Understanding this genetic condition, its causes, its consequences and the development of therapies is essential in order to give people with albinism the hope of future treatments thus enabling them to correct the impairments associated with the condition, especially the visual.

Key dates

Immediately following its creation, Genespoir was eager to promote scientific research into albinism. In 1997 its president, Fabienne Jouan, met Dr Marc Abitbol - the director of the CERTO, an ophthalmic research centre - at Paris Necker Hospital. This meeting led to the first research programme on albinism (supported by Genespoir) being launched in CERTO the following year. Under the supervision Marc Abitbol the organisation decided to grant a three-year PhD scholarship to Olivier Camand, a young researcher. Olivier Camand defended his dissertation Albinisms: genetic diagnoses and study of abnormal retinal development in 2003.

In 2006, Genespoir decided to invite tenders from different laboratories for albinism research projects (up to 15 000€).

The research projects currently supported by Genespoir

2007: a project by Bordeaux Human Genetic Research Laboratory managed by Prof. Benoît Arveiler: Research into new genes involved in oculocutaneous albinism.

This laboratory specialised in the diagnosis of the four known oculocutaneous albinism genes (OCA1, 2, 3 and 4) and of the X-linked ocular albinism gene (OA1). It recently set up the diagnosis of the HSP1 gene which is responsible for Hermansky-Pudlak syndrome type 1.

It is to be noted that today, about 20% of oculocutaneous albinism cases are genetically unexplained. In these cases, at the most, one mutated gene can be found. Based on these findings, Prof. Arveiler set up a genetic research project to find the molecular causes for these unexplained cases. Since 2010, this research work has been the topic of Fanny Morice-Picard’s PhD dissertation.


2009: Prof. Robert Aquaron’s project: Oculocutaneous albinism type 2 (OAC2) in sub-Saharan Africa and genetics of Bantu populations.

Prof. Aquaron has, for a long time, been the only French researcher working regularly on albinism. The research work he carried out in Marseilles led him to be in touch with a lot of people with albinism from Africa. Thus, he is regularly in contact with African organisations for albinism, especially the ASMODISA. Prof. Aquaron often goes to Africa for conferences and medical consultations. His research work notably deals with a peculiar form of albinism linked to a deletion of the OAC2 gene. This deletion is specifically African and Prof. Aquaron is currently studying its spread across the continent.

The cutaneous consequences of albinism are much more serious in Africa than in Europe due to the sunnier climate. One may then wonder about the higher frequency of albinism in some areas of Africa, that is why Prof. Aquaron is trying to establish whether one or several forms of albinism might endow heterozygous carriers with an advantage that would have favoured its transmission.

History of Genespoir’s support to albinism research

1998 beginning of the first dissertation on albinism funded by Genespoir
July 2003 Olivier Camand defends his dissertation Albinisms: genetic diagnoses and study of abnormal retinal development under the supervision of Marc Abitbol.
October 2006 Genespoir invites first tenders to albinism research projects (up to 15 000€).
February 2007 Genespoir scientific council selects the project of Prof. Arveiler from Bordeaux human genetic research laboratory: Molecular analysis of patients with oculocutaneous albinism.
February 2008 Judging from the results obtained by Bordeaux human genetic research laboratory and the project presented for 2008, Genespoir decides to renew its support to Prof. Arveiler.
February 2009 Genespoir reaffirms its confidence in Prof. Arveiler - the director of Bordeaux human genetic research laboratory - and presents him with a 15 000€ cheque again.
The same year, the organisation decides to support a second research project presented by Prof. Aquaron with the support of Prof. Grandchamp from the hormonal and genetic biochemistry service of Xavier Bichat Hospital in Paris. He is granted the amount of 10 000€ over a period of two years.
February 2010 Judging from the results and from the project presented by Prof. Arveiler, Genespoir once again reaffirms its confidence in Bordeaux human genetic research laboratory, presenting him with a 15 000€ cheque for 2010. The organisation also continues to support Prof. Aquaron’s research project. The responsibility of this project is transferred from Prof. Grandchamp to Dr Jean-Louis Bergé Lefranc from the biochemistry and molecular biology laboratory of Hôpital de la Conception in Marseilles. He is granted 5000€, in accordance with the commitment made by Genespoir in 2009.
2010 The research project on albinism carried out in Bordeaux human genetic research laboratory becomes the dissertation topic of Dr med. Fanny Morice-Picard, a hospital-university assistant in the laboratory.
January 2011 Six albinism research European laboratories gather and answer the European call for projects E-rare 2 (European Research Projects on Rare Diseases). The requested budget amounts to 1 377 340€.
February 2011 In addition to answering Genespoir’s yearly tender, Prof. Arveiler proposes an ambitious research programme on new genes involved in oculocutaneous albinism with a 173 000€ budget. Genespoir contributes to funding this project up to 15 000€.
February 2012 For the first time since 2007, four research projects were proposed to answer the tender invited by Genespoir:
  • Researching for new genes involved in oculocutaneous albinism
    presented by Prof. Arveiler, Bordeaux human genetic research laboratory.
  • Oculocutaneous albinism type 2 (OAC2) in sub-Saharan Africa and genetics of Bantu populations presented by Prof. Aquaron, biochemistry and molecular biology laboratory, la Timone, Marseilles.
  • Study of retinal defects in a murine model of albinism presented by Alexandra Rebsam, Institut du Fer à Moulins Unité 839, Inserm, Paris.
  • Contribution of retinal imagery to the improvement of phenotypical / genotypical characterization of oculocutaneous albinism presented by Dr Béatrice Roussaut, centre hospitalier des Quinze-Vingt, Paris.

The tenders received presented a variety of different programmes, however, Genespoir scientific council had to consider the limited financial means of the organisation, and after much deliberation decided to continue funding Prof. Arveiler’s and Prof. Aquaron’s projects. The organisation has pledged to grant them respectively 15 000€ and 5 000€ for 2012.

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