Xeroderma Pigmentosum

‘Vampire disease’ - People with extreme allergy to sun | @DOCUHUB
‘Vampire disease’ - People with extreme allergy to sun | @DOCUHUB administrator 7 Views • 2 years ago

Some people have to stay out of the sun at all cost, because sunlight can be deadly to them. It’s the result of an extremely rare genetic disorder called Xeroderma Pigmentosum, or XP. The condition makes their skin extremely sensitive to sunlight and unable to repair after UV light exposure.

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As a result, XP patients learn to live at night. There’s even a summer camp for children growing up with XP. They can have fun and meet other children facing the same challenges.

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Xeroderma pigmentoso no Brasil: Uma busca por efeitos fundadores e sua distribuição genética
Xeroderma pigmentoso no Brasil: Uma busca por efeitos fundadores e sua distribuição genética administrator 5 Views • 2 years ago

Semana do ICB Virtual (Segundo dia - manhã)
Dia e horário: 10 de setembro de 2021 - 10:30h às 11:30h
Descrição: Palestra do Profa. Dra. Ligia Pereira Castro intitulada “Xeroderma pigmentoso no Brasil:
Uma busca por efeitos fundadores e sua distribuição genética”.
Mediadora: Yris Nara da Silva Santos
Painelista:
Profa. Dra. Ligia Pereira Castro - Graduada em Ciências Biológicas pela Universidade Federal de São
Paulo (UNIFESP) e PhD em Biotecnologia pela Universidade de São Paulo (USP). Tem experiência na
área de Câncer com ênfase em Biologia Molecular, atuando principalmente com sequenciamento de
nova geração (NGS) para identificação de mutações responsáveis por Síndromes Genéticas
relacionadas a deficiências no reparo de DNA. O foco principal é Diagnóstico Molecular. Altamente
comprometida com a construção de uma forma empática de fornecer informações e conhecimento
aos pacientes.
Apoios/Parcerias: Sociedade Brasileira de Fisiologia (SBFis) e Reitoria Digital UFG.
Gestão de telas: Alice Tâmara de Carvalho Lopes
Gestão de chat: Welinton Ribamar Lopes
Gestão do Canal UFG Oficial:
Pablo Lisboa (Coordenador Reitoria Digital UFG)
Wesley Menezes (Gerente de lives do Youtube UFG Oficial)
Informe: As manifestações expressas por convidados que participam dos eventos e transmissões
online no canal UFG Oficial representam, exclusivamente, as opiniões dos seus autores e não,
necessariamente, a posição institucional da UFG.

Nucleotide Excision | Mismatch repair | Muir Torre | Cockayne | Xeroderma Pigmentosum | Werner |
Nucleotide Excision | Mismatch repair | Muir Torre | Cockayne | Xeroderma Pigmentosum | Werner | administrator 3 Views • 2 years ago

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Les malades de la lumière - La PPE, maladie orpheline | 36.9°
Les malades de la lumière - La PPE, maladie orpheline | 36.9° administrator 3 Views • 2 years ago

La protoporphyrie érythropoïétique (PPE) est une maladie ultra-rare, qui ne touche qu'une soixantaine de personnes en Suisse. Elles doivent fuir la lumière du jour, sous peine de douleurs insupportables. Pourtant un traitement existe, mais il n'est quasiment plus remboursé depuis que son prix a fortement augmenté. Des malades avaient commencé à revivre. Ils sont aujourd'hui renvoyés à leurs souffrances, jugées trop chères pour qu'on les soulage.

Extrait de 36.9° du 26 octobre 2016.

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Camp Sundown: A Camp for Kids Allergic to Sunlight [The Big Idea]
Camp Sundown: A Camp for Kids Allergic to Sunlight [The Big Idea] administrator 3 Views • 2 years ago

At 10:30 p.m., kids at most summer camps are winding down for the night. But at a camp in Craryville, New York, the fun is just beginning.

Kickball, Frisbee, and singalongs at Camp Sundown all happen after dark because that is the only time the kids can be outside. Most of them are allergic to the sun. Just a few seconds of sun exposure can cause immense pain or even life-threatening cancer.

Morgan McKillop, 8, was diagnosed with erythropoietic protoporphyria, or EPP, when she was 2. The rare genetic disorder, characterized by photosensitivity, is caused by an enzyme deficiency.

This is Morgan's third summer at Camp Sundown, a program founded by Caren and Dan Mahar in 1996 after their daughter Katie was diagnosed with xeroderma pigmentosum, known as XP. The rare disease affects just one in a million people, whose genes lack the ability to process sun-damage.

After Katie's diagnosis, the Mahars were devastated. They knew that if they didn't do something, their daughter might be alone for the rest of her life. That something came first in the form of the Xeroderma Pigmentosum Society, a support and information group, and a year later Camp Sundown was born. Days are spent doing crafts, yoga and playing games indoors. Nights outside stretch into the early mornings.

That is a shared reality here. Mary and Ray Ventrice's daughter Gia, 6, was diagnosed with EPP as a toddler. The condition has taken a toll physically and emotionally. Her father said it affected her spirit. But little more than 24 hours after Gia got to camp, her spirit seemed to soar.

Camp Sundown is a family affair, so the campers with sun sensitivities come with their entire families—moms, dads, siblings. Often those family members get just as much out of the experience as the campers do.

Cathy and Brent Macfarlane's son Jack has EPP. This is the second summer they've made the trip from Ontario. Like most families at Camp Sundown, they didn't know anyone else dealing with a condition like their son's until they came here. They said they felt a sense of extended family at the camp.

In addition to the endless activities, one-on-one visits with medical experts, and the campfire s'mores, the week-long session of Camp Sundown is completely free for every family.

So Camp Sundown relies entirely on charitable donations. The Mahars said that each week-long session costs about $20,000, which they scrape together. But it is worth it because each camp session is a bright spot in the campers' lives. They run free like every child is supposed to, the Mahars said, and they are happy to be alive and in each other's company.

--STACEY DELIKAT

Nucleotide Excision Repair|Molecular Biology|Dna Repair System Lecture 3|Xenoderma Pigmentosum|
Nucleotide Excision Repair|Molecular Biology|Dna Repair System Lecture 3|Xenoderma Pigmentosum| administrator 3 Views • 2 years ago

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