Archive for the ‘albinism’ Category

13 June: International Albinism Awareness Day

Saturday, June 13th, 2015
13 June: International Albinism Awareness Day

13 June: International Albinism Awareness Day

People with albinism are visually handicapped and show variable alterations in pigmentation. In our first world, people with albinism can protect their skin from the sun rays, with sun creams, hats and adequate clothes. Unfortunately, in Africa, where usually sunscreens and protective clothes are not universally available, people with albinism suffer from sunburns that often develop into skin tumours and eventually to death, if not treated and removed in time. This is terrible and absolutely unnecessary and could be easily prevented, as it already happens in the first world, where people with albinism can protect their skins from sunlight and can receive support for their visual impairment, which constitutes their most important problem in their everyday’s life.
Furthermore, in some countries in Africa, people with albinism are kidnapped, hunted, killed and cut into pieces, aberrantly and stupidly used in magic rituals associated to a profound ignorance and lack of humane culture, which should be banned, prosecuted, condemned and erradicated.
Today, as the International Albinism Awareness Day, from the International Federation of Pigment Cell Societies, we would wholeheartedly appreciate if everyone of you could dedicate at least some minutes to think about the situation and problems affecting people with albinism all over the world. Joining or supporting any of the many campaigns launched today by the associations in support of people with albinism could be a fantastic first step!.
… and many more associations and initiatives in support of people with albinism!
The ESPCR supports a conference on oculocutaneous albinism in sub-saharian Africa, which will be held in Douala, Cameroon, on 24-25 July, promoted by Prof. Robert Aquaron (Honorary member of ESPCR) and Prof. Albert Mouelle (Cameroon), where a number of IFPCS members will be there presenting our research projects and scientific progress aiming to better understand albinism.
Thanks for joining and spreading the word!.

Updated information about the IPCC2014 in Singapore

Wednesday, February 5th, 2014
Updated information about the IPCC2014 in Singapore

Updated information about the IPCC2014 in Singapore

New types of oculocutaneous albinism

Saturday, September 28th, 2013
New types of oculocutaneous albinism. Pictures taken from figures published in Montoliu et al. (Pigment Cell & Melanoma Res., 2013 Sep 21. doi: 10.1111/pcmr.12167). Top panel: OCA5 subjects; Middle panel: OCA6 subjects; Bottom panel: OCA7 subjects.

New types of oculocutaneous albinism. Pictures taken from figures published in Montoliu et al. (Pigment Cell & Melanoma Res., 2013 Sep 21. doi: 10.1111/pcmr.12167). Top panel: OCA5 subjects; Middle panel: OCA6 subjects; Bottom panel: OCA7 subjects.

Three new types of oculocutaneous albinism have been reported recently. OCA5 was first described by Zubair Ahmed’s lab in a Pakistani family and has been associated with a region within human chromosome 4 (4q24). OCA6 was first described by Wei Li’s lab in a Chinese family and is associated with mutations in the SLC24A5 gene. OCA7 was first described by Karen Gronskov and Thomas Rosenberg’s labs in a Denish family and is associated with mutations in the C10orf11 gene. These three new types of oculocutaneous albinism have been discussed in a collaborative review just published online in Pigment Cell & Melanoma Research:

Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W.
  • 4q24 ==> OCA5
  • SLC24A5 ==> OCA6
  • C10orf11 ==> OCA7

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