Posts Tagged ‘albinism’

Meeting report: 1st International Workshop on Oculocutaneous Albinism in Subsaharian Africa

Wednesday, July 29th, 2015
1st International Workshop on Oculocutaneous Albinism in Subsaharian Africa

1st International Workshop on Oculocutaneous Albinism in Subsaharian Africa

Last week, on 24-25 July, the 1st International Workshop on Oculocutaneous Albinism in Subsaharian Africa took place at the Sawa hotel, in Douala, the economic capital of Cameroon. This meeting was organized by Robert Aquaron (Univ. Aix-Marseille, France), Albert Mouelle (Univ. Douala, Cameroon) and Charlotte Baker (Lancaster Univ., UK) and counted with the participation of several additional scientists from different countries, including: Patricia Lund, Benoît Arveiler, Alain Taïeb, Alain Froment, Pierre Bey, Robyn Kerr, Jennifer Kromberg, Martial Zannou and Lluís Montoliu. The meeting was co-sponsored by Lancaster University, Wellcome-Trust, Avene/Pierre-Fabre laboratory and the European Society for Pigment Cell Research (ESPCR), among many other government (Yvonne Matuturu, from UNESCO, Burundi, several ministries in Cameroon) and non-government institutions (Jon Beale, Standing Voice). The meeting was attended by more than 120 participants coming from several countries in Africa, including: Cameroon, Burundi, Benin, Ivory Coast, Mali, Malawi, Zambia, South Africa, Niger, Nigeria and Republic of the Congo.

From left to right: Robert Aquaron, Charlotte Baker, the Rector of the University of Douala, Albert Mouelle and the President of ASMODISA

From left to right: Robert Aquaron, Charlotte Baker, the Rector of the University of Douala, Albert Mouelle and the President of ASMODISA

This meeting was in many ways unique and exceptionally successful and the organizers must be praised for having managed in bringing to Cameroon many different people with a common interest on albinism in Africa. Basic researchers, clinicians, anthropologists, dermatologists, ophthalmologists, experts in human rights, professors at universities, members of associations and organizations in support of people with albinism, advocating for albinism, people with albinism themselves, students and public in general gathered in Douala to discuss both scientific and social aspects of albinism, particularly focused into topics that affect people with albinism in Africa. Albinism is the same genetic condition present in Europe and Africa, and everywhere else in the world. However, whereas people with albinism in Europe can concentrate their efforts in the visual handicapping features of albinism, while protecting their skin from the sun with adequate creams and clothes, the absence of these simple materials in Africa makes these individual unfortunately and unnecessarily prone to develop skin cancer, and with fatal consequences if tumors are not treated in time. Hence, the dermatological aspects of oculocutaneous albinism, mainly OCA2, the commonest form of albinism in Africa, become extraordinarily relevant and, consequently, were the subject of many presentations and discussions throughout this workshop in Douala.

Two participants with oculocutaneous (OCA) albinism attending the conference in Douala. The person on the left is OCA2, the person on the right is OCA1.

Two participants with oculocutaneous (OCA) albinism attending the conference in Douala. The person on the left is OCA2, the person on the right is OCA1.

Raising positive awareness and advocating for people with albinism was a common aim for all organizations attending this workshop in Douala. ALBA and Genespoir, the Spanish and French associations in support of people with albinism, contributed with copies of the book on “Albinism. One genetic condition: two realities, Spain and Senegal”, originally published in Spanish by ALBA in 2009 and later translated to French by Genespoir in 2012. French copies of this book with many testimonials by people with albinism from both Europe and Africa were distributed among representative delegates from African associations in support of people with albinism. Two flyers, sponsored by ESPCR, dealing with the workshop and with oculocutaneous albinism type 2, OCA2, were distributed to all the participants.

Robert Aquaron distributing sun protection cream among participants (click on image for VIDEO)

Robert Aquaron distributing sun protection cream among participants (click on image for VIDEO)

The meeting closed with a Gala Dinner where sun protection creams (50+ SPF) generously donated by Avene/Pierre-Fabre laboratory, were distributed among people with albinism participating in this conference and the corresponding associations representing them. At this Gala Dinner we could enjoy performances by several groups with people with albinism sharing their talent dancing, singing or in a fantastic mannequin parade where a local fashion designer is using them to present his creations. Among these performances there was one outstanding, by John Chiti, from Zambia, a gifted music composer that uses the language of music and his rhythmic songs to talk about his albinism and albinism in general, advocating for this genetic condition and increasing positive awareness among the society.

Dances at the Gala Dinner of the Albinism Conference in Douala (click on image for VIDEO)

Dances at the Gala Dinner of the Albinism Conference in Douala (click on image for VIDEO)

Performance of John Chiti, music composer from Zambia, at the Gala Dinner of the Albinism Conference in Douala (click on image for VIDEO)

Performance of John Chiti, music composer from Zambia, at the Gala Dinner of the Albinism Conference in Douala (click on image for VIDEO)

In summary, this was a splendid conference where we all shared our progress into the understanding and treatment of albinism, where we could discuss, face to face, directly with people with albinism in Africa and their associations, listening to their needs and their requests for help and support. This should be the first of many additional workshops to come, in Africa, to keep this momentum and push forward the awareness on albinism in this continent where the priorities and requirements for life are somehow different from what we are used to hear in Europe. Attending a meeting in Africa is always a moving and very emotional experience, where you are directly confronted with the problems and the difficulties one usually reads in the books and journals, or watches on TV. But being there is something else. There is a saying that goes: “when you leave Africa, Africa doesn’t leave you any more”. Robert Aquaron told me about it some years ago, when I still didn’t have the chance to visit Africa. Now, after coming back from Cameroon I can only say: so true!.

Robert Aquaron near Mount Cameroon

Robert Aquaron near Mount Cameroon

Many thanks are due to Robert Aquaron and the rest of his colleagues for having promoted this conference on albinism in Africa.
Lluis Montoliu

Meeting Report: 2nd European Days of Albinism, Valencia, Spain, 5-6 April 2014

Tuesday, April 8th, 2014
Meeting Report: 2nd European Days of Albinism, Valencia, 5-6 April 2014

Meeting Report: 2nd European Days of Albinism, Valencia, 5-6 April 2014

During the past weekend, April 5-6, 2014, Valencia (Spain), could be considered the World Capital of Albinism, due to the 2nd European Days of Albinism (2EDA) that took place at the ONCE Foundation in Valencia, with great success, organized by ALBA, the Spanish association in support of people with albinism, and with the participation of several additional European associations and many specialists in the field, from Europe, USA and Japan. This meeting was co-sponsored by the European Society for Pigment Cell Research (ESPCR), and also received the support from the EU Commission, the Spanish Rare Disease Initiative (CIBERER-ISCIII) and a number of additional entities and firms.

The 2EDA meeting, devoted to all aspects of ALBINISM, from research to social, from the latest investigations to educative programs, was built following a successful pioneer 1EDA meeting held in Paris, in October 2012, and organized by Genespoir, the French association in support of people with albinism. Three concurrent sessions took place over the entire weekend, focused in three aspects of albinism: research, associations and young people with albinism. Anyone interested could grasp the intensity, committment and success of this 2EDA meeting by simply browsing these beautiful pictures taken by Ana Yturralde and Merce Montoliu.

The scientific sessions of the 2EDA meeting gathered different professionals working directly on albinism: molecular biologists, cellular biologists, biochemists, human geneticists, ophthalmologists, neurobiologists, dermatologists, experts in rehabilitation medicine, clinicians and researchers in general, rarely coinciding at the same meeting but discussing in Valencia on albinism, with a multidisciplinary view, and across fields, a real privilege and a wonderful and most rewarding experience for those attending this focused meeting. The 26 invited speakers present at 2EDA in Valencia included ESPCR members as Alain Taïeb (Bordeaux, France), Vittoria Schiaffino (Milan, Italy), Robert Aquaron (Marseille, France), José Carlos García-Borrón (Murcia, Spain), Mónica Martínez-García (Madrid, Spain) and Lluís Montoliu (Madrid, Spain), as well as PASPCR members as Murray Brilliant (Marshfield, WI, USA) and Esteban Dell’Angelica (Los Angeles, CA, USA) and a JSPCR member, Tamio Suzuki (Yamagata, Japan). Shari Parker, from Sydney (Australia), representing the Albinism Fellowship of Australia also generously attended this meeting and share with the participants her experience and knowledge on rehabilitation

The number of genes whose mutations are associated with albinism has recently increased, hence the complexity of this group of genetic conditions and the definition of the albino phenotype, the common traits present in all people with albinism, need to be reviewed and discussed. Additional syndromes have been descrined, such as FHONDA, closely related to albinism, challenging our view on this rare disease. All these aspects, as well as biochemical, cellular, ophthalmological, dermatological, and, overall, clinical, aspects were discussed in depth during this fruitful 2EDA meeting in Valencia.

The Organizers from ALBA and the Scientific Committee need to be praised for their great work done and the success accomplished. The next 3EDA meeting will be taking place in Italy, in 1-2 years. Details will be announced in due time. Anyone interested on the EDA-meeting series initiative can contact Lluis Montoliu or ALBA, at: contactar@albinismo.es

The 2nd European Days of Albinism (2EDA) will be held in Valencia (Spain) on 5-6 April 2014

Thursday, January 16th, 2014
The 2nd European Days of Albinism (2EDA) will be held in Valencia (Spain) on 5-6 April 2014

The 2nd European Days of Albinism (2EDA) will be held in Valencia (Spain) on 5-6 April 2014

The European Society for Pigment Cell Research (ESPCR) is pleased to announce the co-sponsorship of the 2nd European Days of Albinism (2EDA), a conference organized by, ALBA, the Spanish Association in support of people with albinism, together with a scientific committee of researchers and physicians interested in albinism: Benoît Arveiler (Bordeaux, France), Karen Grønskov (Coppenhagen, Denmark), Barbara Käsmann-Kellner (Homburg, Germany), Vittoria Schiaffino (Milan, Italy) and Lluís Montoliu (Madrid, Spain).

At the 2EDA conference researchers, interested in albinism, will gather with patients and their associations, in order to discuss, in parallel, both scientific and social aspects of albinism, exchanging ideas, projects and initiatives, at the European level, with the collaboration of a number of international experts in the field. This 2EDA meeting, organized by ALBA, the Spanish Association in support of people with albinism, follows a previous successful edition, 1EDA, organized by Genespoir, the French Association in support of people with albinism, in Paris in October 2012, also co-sponsored by the ESPCR. The 2EDA meeting is planned over a weekend, 5-6 April 2014, to allow the participation of patients and their families. On the first day (Saturday, 5 April) scientists and members of the associations will meet separately and discuss their own topics and agendas. On the second day (Sunday, 6 April), first half of the morning is devoted to continue the concurrent sessions and, eventually, both scientists and members of the associations will gather together and summarize the topics discussed and the conclusions/recommendations achieved before all delegates. The aim of this conference series is to promote awareness of albinism, to trigger collaborative research projects on albinism, and to facilitate collaborative efforts between the different associations in support of people with albinism existing in Europe and represented at this meeting.

At the 2EDA conference, the invited speakers that have kindly confirmed their attendance, a number of them also members of the IFPCS,  include:

  • Robert Aquaron (Marseille, France)
  • Esteban Dell’Angelica (Los Angeles, CA, USA)
  • Benoît Arveiler (Bordeaux, France)
  • Murray Brilliant (Marshfield, WI, USA)
  • José Carlos García-Borrón (Murcia, Spain)
  • Maria van Genderen (Zeist, The Netherlands)
  • Karen Grønskov (Coppenhagen, Denmark)
  • Michael Hoffmann (Magdeburg, Germany)
  • Barbara Käsmann-Kellner (Homburg, Germany)
  • Herbert Kirchesch (Pulheim, Germany)
  • Valeria Marigo (Modena, Italy)
  • Lucia Mauri (Milan, Italy)
  • Lluís Montoliu (Madrid, Spain)
  • Fanny Morice-Picard (Bordeaux, France)
  • Frank Proudlock (Leicester, UK)
  • Alexandra Rebsam (Paris, France)
  • Vittoria Schiaffino (Milan, Italy)
  • Alain Taïeb (Bordeaux, France)
  • Pedro de la Villa (Alcalá de Henares, Madrid, Spain)

Registration at reduced fees will be possible until 15 February, and thereafter, standard registration fees will apply, until 15 March: registration deadline.

For those of you with interest in any aspect related to albinism, thanks for registering and looking forward to meeting you all in the beautiful city of Valencia!

Lluis Montoliu

1st European Days of Albinism

Tuesday, October 30th, 2012
1st European Days of Albinism, Paris, France, 27-28 October 2012

1st European Days of Albinism, Paris, France, 27-28 October 2012

Last weekend, 27-28 October 2012, the meeting on 1st European Days of Albinism, was held in Paris (France), hosted by the French Platform of Rare Diseases and organized by Genespoir, the French association in support of persons with albinism. This meeting was co-sponsored by the European Society for Pigment Cell Research (ESPCR). About 65 participants, representing various associations on albinism from various countries (France, Spain, Italy, Germany, Netherldans, UK and Ireland, Denmark, Norway) and scientists (ophthalmologists, geneticists, dermatologists, molecular biologists) gathered in Paris to discuss various aspects around albinism, from the latest research on genetics, animal models, diagnosis and therapeutic interventions, to the common problems, needs and demands faced by persons with albinism and their families. The meeting expanded over two days, with the first day devoted to two concurrent parallel sessions where scientists and associations discussed, at length and in details, their corresponding topics. Representatives from the researchers and the associations reported to all participants on the second day, where collaborative efforts were seeked and found, at the level of the associations and scientists participating. The meeting proved to be very successful and Genespoir must be praised for all their efforts. It was decided that this meeting will be organized again, for the second time, in Madrid (Spain), during the Spring of 2014, in collaboration between the laboratory of Dr. Lluis Montoliu (CSIC/CIBERER) and ALBA, the Spanish association in support of persons with albinism. Genespoir, inspiring and pioneering this excellent initiative, at European level, will be also contributing to the organization of the second European meeting on albinism in 2014.

1st European Days of Albinism, Paris, France, 27-28 October 2012

1st European Days of Albinism, Paris, France, 27-28 October 2012

1st European Days of Albinism, Paris, France, 27-28 October 2012, organized by Genespoir

Saturday, June 2nd, 2012
1st European Days of Albinism, Paris, France, 27-28 October 2012, organized by Genespoir

1st European Days of Albinism, Paris, France, 27-28 October 2012, organized by Genespoir

The First European Days of Albinism will take place in Paris on Saturday 27th and Sunday 28th October 2012, organized by Genespoir, the French Association in support of persons with albinism. This conference will gather representatives of European organizations of people with albinism, doctors and physicians specializing in fields related to albinism and scientists conducting research on albinism. For the first time, these three major actors of the European world of albinism will have the opportunity to meet, exchange and discuss potential future collaborations. This conference should allow the development of a European plan of action to help people with albinism. It should lead to:
 
•Developing programs that explain albinism to the general public
•Building a scientific and medical state of the art of albinism
•Improving clinical and molecular diagnosis
•Supporting therapy development programs
 
Conference place: “Plateforme maladies rares“, Hôpital Broussais, 96 rue Didot, 75014 Paris.
 
Organizing commitee: Genespoir, French organization of albinism
 
Scientific committee:

Robert Aquaron, Marseille, France
Benoît Arveiler, Bordeaux, France
Glenn Jeffery, London, UK
Barbara Käsmann-Kelner, Homburg, Germany
Lluis Montoliu, Madrid, Spain
Maria-Vittoria Schiaffino, Milan, Italy
Alain Taïeb, Bordeaux, France 
  
Contact address: conference@genespoir.org

In addition to the indicated researchers, from the scientific committee, it is confirmed the attendance as invited speakers of Enrico Surace (TIGEM, Naples, Italy) and Brian Brooks (NIH, Bethesda, MD, USA), responsible of the two pioneer experimental therapeutic attempts to potentially treat some types of albinism.

Don’t miss this opportunity to visit Paris to discuss about albinism!