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Aimee, 9, has a rare skin disorder which requires that she avoid sunlight. It's called xeroderma pigmentosum (XP).
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Dona Maria e sua família sofrem com as consequências do xeroderma pigmentoso há anos. Um de seus filho morreu em consequência da doença. Já o irmão da idosa, João, é considerado o homem mais velho do Brasil a portar a diagnóstico.
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The largest single group of people suffering a genetic disease known as xeroderma pigmentosum, or XP, live in Araras in central Brazil, where their skin rapidly breaks down under the tropical sun.
This disease places an enormous burden on this community that relies on farming and outdoor work to survive. UV rays can penetrate the skin's thick epidermis to reach inner skin cells.
While most individuals naturally recover from exposure to sunlight, people born with the skin disorder do not have the ability to repair UV damages. Those born with the skin disorder are highly sensitive to UV rays, developing freckles and small lumps at a young age. Many eventually die from skin tumors.
The village was founded by just a few families in which several members were carriers of the disease. Researchers say that the geographic isolation of the region made marriages between cousins common, greatly increasing the incidence of XP.
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Please watch: "Crying dog breaks the internet’s heart — but this sad dog story has a happy ending"
https://www.youtube.com/watch?v=4prKTN9bYQc
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L’albinisme oculo-cutané (AOC) est une maladie à transmission génétique qui se caractérise par un défaut de production de pigment (la mélanine) dans les cellules de la pigmentation (les mélanocytes).
Le xeroderma pigmentosum correspond à l’incapacité pour l’organisme de réparer certains accidents survenus sur notre matériel génétique (ADN). Les yeux, la peau et le système nerveux sont les organes les plus fragiles.
Découvrez sur cette vidéo éducative des conseils simples à appliquer au quotidien pour vous photoprotéger (crèmes solaires, temps d'exposition, vêtements de protection...).
Partenaires de cette vidéo :
Enfants de la lune
https://www.enfantsdelalune.org/
Genespoir - Association française des albinismes
https://www.assoconnect.com/ge....nespoir/page/69659-a
Plus d'informations sur les maladies rares en dermatologie :
https://fimarad.org/
Beautiful, clear, molecular biology. In this video you will master nucleotide excision repair, base excision repair, mismatch repair, nonhomologous end joining, and homologous recombination.
**ERRATA**
-5:32 - 6:54: Fanconi anemia and gynecological malignancy is associated with homologous end joining and ataxia telangiectasia is associated with nonhomologous end joining
Keep calm and watch Physeo.
Come watch the rest of our biochemistry library at https://physeo.com/
