Гинекология, акушерство и материнство
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Australian man with an unbearable genetic disease - Erythropoietic Protoporphyria (EPP)


Adrian was diagnosed with the genetic disease Erythropoietic Protoporphyria (EPP) when he was 5. Exposure to light causes him excruciating pain. He has absolute light intolerance. EPP is characterised by the accumulation of toxic compounds in the body of patients. Exposing an EPP patients skin to light, particularly blue light, causes excruciating pain, an intense burning, stinging heat. Adrian describes EPP as similar to having badly sunburnt skin scrubbed with a wire brush. Swelling and blistering can also form after extended sun exposure. Even artificial lights, such as those in supermarkets and laptop screens can cause acute pain. EPP is a lifelong disorder presenting in early childhood. The onset of the disease is traumatic for both children and parents. Sun avoidance is the mainstay of treatment for EPP patients who are often forced to remain indoors, severely affecting their quality of life. Eventually a nocturnal existence is the only way of life for many porphyria patients. Currently, there is no proven effective treatment or prevention method for EPP. View this video with German subtitles: www.youtube.com View this video with Hebrew subtitles: www.youtube.com For more information on EPP visit: www.clinuvel.com
Теги: Scenesse Erythropoietic Protoporphyria EPP Afamelanotide Photoprotection photoprotective Clinuvel Light UV Ultraviolet Melbourne Australia Pharmaceuticals Sun Sunlight Understanding sunsmart Skin cancer damage care burn pain intense rare disease genetic absolute intolerance sensitive sunburn swelling scaring heat traumatising depression stressful hands face nose condition medicinal vampire porphyria diagnosis treatment melanin tan disorder suffer severe expert

Genetic Disease, Porphyria (Also known as the Vampire Disease)


Know more about Porphyria, which is also known as the Vampire Disease.
Теги: porphyria genetic disease vampire sick illness health cure natural

Genetic Disorders


A mom shares her story of having a daughter with Turner's Syndrome. We also talk to a top doctor about this genetic disorder.
Теги: genetic disorder Turner's Syndrome Parents TV parenting children

Triad Girl Has Rare Genetic Disorder


Madison Potts has Williams Syndrome is a rare genetic disorder that can lead to problems with development and makes her overly happy...
Теги: Kimberly Van Scoy Williams Syndrome Triad Girl Has Happiness rare genetic disorder WXII12 Health Headlines Madison Potts

Genetic Heartache: Huntington's Disease


Huntington's is a genetic disease which slowly steals one from themselves. This piece is not only a reflection of one brave woman's journey but also a gift for those whose love, strength and devotion walked along side her.
Теги: Huntington's Disease HD genetic Janet Seaborn

Genetic Disorder - Patientenfick


Industriel sound Genetic Disorder - Patientenfick Found on: Extreme Störfrequenz 3
Теги: Industrial Industriel EBM Wave Gothic Noise Genetic Disorder Patientenfick Extreme Störfrequenz

Cracking Your Genetic Code


Using genetic information to diagnose and cure disease ''Know thyself.'' / ''The burden of knowing.'' Air Date 28 March 2012 Written, produced and directed by Sarah Holt PBS NOVA WGBH Educational Foundation
Теги: biology medicine science gene genome mutation DNA sequence disease Collins NIH National Institutes of Health genetic genomic cancer Alzheimer's Huntington's Cystic Fibrosis melanoma genechip Knome Illumina 23andme Vertex Pharmaceuticals

Repo! The Genetic Opera - Infected


Repo! The Genetic Opera Greatest movie EVER!!! lyrics SHILO I'm...infected I'm infected by your genetics Shilo, I'm the doctor Shilo, I'm your father Oh, Shilo, that was close! Take your medicine I'm infected by your genetics Shilo, you're my patient Shilo, be more patient You have limitations, don't go chasing flies I must be protective You cannot be reckless That's what is expected when you are infected I'm infected by your genetics I'm infected by your genetics And I don't think that I can be fixed No, I don't think that I can be fixed Tell me why, oh why are my genetics such a bitch? It's this blood condition Damn this blood condition! Mother can you hear me? Thanks for the disease! Now I am sequestered Part of the collection That's what is expected when you are infected That's what is expected when you are infected That's what is expected when you are infected How much of it's genetics? How much of it is fate? How much of it depends on the choices that we make? He says I have her eyes, did I also inherit his shame? Is heredity the corporate, 'cause stop it or am I a slave? I'm infected by your genetics I'm infected by your genetics What hope has a girl who is sick? My dream of a life past this fence It really makes no difference 'Cause I know that I'll never be fixed Tell me why, oh why are my genetics such a bitch? Oh, I want to go outside Outside Oh, I want to go outside Outside Song # 4 of 22
Теги: Repo! infected music

Primate Evolution and Human Disease


Ajit Varki is Co-Director of the newly established UCSD / Salk Center for Academic Research and Training in Anthropogeny, multidisciplinary approach to understanding human origins, which involves scientists from across San Diego and all over the world. Here he explores the genetic approach to understanding human disease, in the light of genetic changes that occurred during our evolutionary history.
Теги: evolution CARTA genetics

Philadelphia Phillies slugger Ryan Howard helped Josiah Viera, who has a rare genetic disorder


Facebook Page www.facebook.com Josiah Viera An Inspiration www.youtube.com
Теги: Josiah Viera
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