Archive for the ‘phenotypes’ 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

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.

VETF: Vitiligo European Task Force

Wednesday, September 24th, 2008

Vitiligo European Task Force

The Vitiligo European Task Force, coordinated by Alain Taïeb and Mauro Picardo, has updated its WEB with new documents and minutes corresponding to their last meetings and workshops held this year in Bordeaux, Sapporo and Paris.

 

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!