Archive for the ‘pigmentary genes’ Category

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

18th ESPCR Meeting (ESPCR2013) – Lisbon (Portugal) – 9-12 September 2013

Saturday, December 8th, 2012
18th ESPCR Meeting (ESPCR2013) - Lisbon (Portugal) - 9-12 September 2013

18th ESPCR Meeting (ESPCR2013) - Lisbon (Portugal) - 9-12 September 2013

At the European Society for Pigment Cell Research (ESPCR), it is our pleasure to launch the first announcement of the 18th ESPCR meeting (ESPCR2013), which will be held in Lisbon (Portugal) on 9-12 September 2013. The ESPCR2013 meeting is organized by Prof. Miguel Seabra (CEDOC, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Portugal), Dr. Graça Raposo (Institut Curie, Paris, France) and Dr. Duarte Barral (CEDOC, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Portugal). The ESPCR2013 meeting venue will be at the Faculdade de Ciencias Medicas, historical central Lisbon, Portugal.

The Organizing Committee for the ESPCR2013 meeting includes the following scientists: Christine Baldeshi, Evry (FR); Dorothy C. Bennett, London (UK); Corine Bertolotto, Nice (FR); Anja Bosserhoff, Regensburg (DE); Véronique Delmas, Orsay (FR); Claire Futter, London (UK); Colin Goding, Oxford (UK); Valeria Marigo, Modena (IT); Lluis Montoliu, Madrid (ES); Liz Patton, Edinburgh (UK); Mauro Picardo, Rome (IT).

The main topics of the ESPCR2013 meeting will include:

  • cell biology of pigment cells
  • pigment cells in the eye and associated diseases
  • regulation of the pigmentation at the molecular level
  • melanocyte and melanoma stem cells.

Additional information will be published soon at the ESPCR2013 meeting official web page: http://www.espcr.org/ESPCR2013

Any question, comment, suggestion or request of information should be addressed to the ESPCR2013 meeting official email address: espcr2013@espcr.org

A meeting flyer with the first announcement of the 18th ESPCR meeting can be downloaded from here.

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

New ESPCR Bulletin published, nº 69 (April 2011)

Friday, April 8th, 2011
New ESPCR Bulletin published, nº 69 (April 2011)

New ESPCR Bulletin published, nº 69 (April 2011)

2011 Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous melanocytosis, 6-7 May 2011, Tübingen, Germany

Tuesday, March 22nd, 2011
2011 Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous melanocytosis, 6-7 May 2011, Tübingen, Germany

2011 Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous melanocytosis, 6-7 May 2011, Tübingen, Germany

The 2011 Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous melanocytosis will be held in Tübingen (Germany), on 6-7 May 2011. Here you can download a copy of the flyer for this meeting.

New ESPCR Bulletin published, nº 68 (December 2010)

Friday, December 10th, 2010

New ESPCR Bulletin published, nº 69 (December 2010)

Color Genes WEB

Tuesday, September 9th, 2008
Color Genes WEB

Color Genes WEB

The WEB page that contains the most updated information about COLOR GENES has changed its name to better reflect the wide variety of loci involved in pigmentation, including some that do not affect or involve coat color. Therefore, the old name of “Coat Color Genes” has been updated to COLOR GENES. This WEB page is available from the ESPCR WEB site.

Coat Color Genes WEB updated

Sunday, August 10th, 2008
Coat Color Genes WEB
Coat Color Genes WEB

The Coat Color Genes WEB has been updated. 79 new loci have been added as cloned and uncloned pigmentary genes. This site, hosted at the ESPCR WEB, now holds information of 210 genes that are directly or indirectly related to pigmentation, and also includes up to 84 mouse pictures, generously contributed by several ESPCR members and colleagues, illustrating the phenotype of some of these mutations.

This WEB is maintained by Lluis Montoliu and Dot Bennett and it is actively being updated with additional loci involved in pigmentation. If you are interested in coat color genes we suggest you to visit regularly the coat color genes web site and look for the most updated information. If you have any suggestion, comment, contribution, correction, idea, request, etc… regarding the coat color genes web please forward your message to: micemut@espcr.org
Thanks for your collaboration!