Archive for the ‘albinism’ Category

IFPCS supports the 4EDA-Albinism meeting in Oslo with four registrations

Wednesday, December 20th, 2017
IFPCS supports the 4EDA-Albinism meeting in Oslo with four (4) registrations

IFPCS supports the 4EDA-Albinism meeting in Oslo with four (4) registrations

The Board of the International Federation of Pigment Cell Societies (IFPCS) has approved to support the 4th European Days of Albinism (4EDA) meeting, to be held in Oslo (Norway) on 7-10 March 2018, with four (4) standard registrations for IFPCS members willing to attend this conference. Researchers and clinicians interested to attend this meeting who are current IFPCS members can submit their applications (brief CV and letter of intent are mandatory, abstract is optional) by January 15, 2018, to Lluis Montoliu (montoliu@cnb.csic.es), IFPCS Secretary and co-organizer of the 4EDA meeting, indicating in the subject of the message: application for 4EDA meeting.

WELCOME NOTE to 4EDA

Dear colleagues and friends,
Albinism is a rare genetic condition which primarily affects vision. The visual impairments of people with albinism can be associated with problems with pigmentation. For an adequate multidisciplinary approach to albinism, several professional are required, including dermatologists, ophthalmologists, hematologists, neurologists and geneticists. The same holds true for research in albinism, where geneticists, cellular biologists, molecular biologists, biochemists and neuroscientists have to investigate in a cooperative manner. The European Days of Albinism (EDA) are unique occasions for scientists and medical practitioners in charge of patients with albinism and involved in research on this condition to meet the European patients’ associations. The EDAs include scientific sessions, during which the latest advances in the field are presented and discussed, covering all aspects of the disease, from dermatology, to ophthalmology, genetics, cell biology and therapy. In parallel, the EDAs also hold a Meeting of the European Patients’ Associations. The EDAs traditionally end with a half day plenary session where delegates from the scientists and patients’ association groups share the summary of the topics that were discussed in their corresponding meetings.
After the first three extremely stimulating EDAs; held in Paris 2012, Valencia 2014 and Milan 2016, we are pleased to announce that the 4th EDA will take place at the Hurdal Vision and Activity Center, near Oslo, Norway, on March 8th-10th, 2018. The format has been extended to three days, which will leave two full days for the scientific meeting, thus allowing for more in-depth presentations and discussions of the new findings and developments in this complex field.
Another novelty is that the European patients’ associations have now formalized a Network of associations called Albinism Europe (www.albinism.eu). They rely on a scientific committee of thirteen members to both assist them with medical and scientific issues and to prepare the scientific program of the EDAs.
We are looking forward to seeing you in Norway for the 4th European Days of Albinism!
Lluis Montoliu and Benoît Arveiler, for the Scientific Committee of Albinism Europe

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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