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Genetic Disorder - Patientenfick


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Теги: Industrial Industriel EBM Wave Gothic Noise Genetic Disorder Patientenfick Extreme Störfrequenz

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

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

Sickle Cell Anemia -- Hope from Gene Therapy


This inherited red blood cell disorder is the most common genetic disease in America, and one of the most painful and debilitating. Until now, bone marrow and cord blood transplants have been the only treatment available to patients, and matched donors are hard to find. But an experiment at Genetix in Cambridge, Massachusetts is raising hopes. By treating the bone marrow of mice with anti-sickling gene therapy, scientists saw great improvement in normal red blood production.All 50 Secrets of the Sequence videos have an accompanying classroom-tested lesson that encourages students to further explore the video topics. Each lesson includes background information, state and national science standards, discussion questions and answers, teacher notes and an activity that will ensure a hands-on, "minds-on" experience. To see lessons for this series, visit www.pubinfo.vcu.edu
Теги: vcu virginia commonwealth university richmond rams blood gene dna science health cells sickle 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

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

Garrett: The Boy Beneath The Bandages. WINNER of the Rare Disease Day 2010 Video Contest.


Epidermolysis Bullosa, or EB, is a rare genetic skin disorder the the majority of people have never heard of, yet it affects 100000 children across the United States. Children born with this disease lack the ability to produce the collagen-7 protein that acts as a glue to bind the inner and out layers of skin together. This video is about Garrett and the disease he was born with, Epidermolysis Bullosa or, EB. This video is very unique compared to images you might normally see regarding EB, in that it gives the public an intimate, true to life view of what living day-to-day is like with a rare debilitating skin disease. Part 2 of this video can be viewed here: www.youtube.com
Теги: Rare Disease Day 2010 Epidermolysis Bullosa

Rare disease - causing patients to turn to stone


fopworld.blogspot.com Its the story of patients who have disease causing their soft tissue - muscle, ligaments, tendons - to turn to literal stone. It's like their skeleton is forming a skeleton, which will eventually immobilize them.
Теги: bone disease fibrodysplasia fop gene genetic medical mop muscle myositis ossificans progressiva skeleton tissue

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

THE BOY WHO WILL NEVER GROW


Jack seems like any other 8 year-old boy. He goes to school, he loves sport, and his favourite thing is swimming. The problem is that Jack has Morquiose, a rare genetic condition that means his skeleton will never grow. Now at the age of 8 Jack is the size of a 4 year-old and has almost reached the full height he'll grow. This film follows the life of Jack and his family as they face the uncertain future of life with this rare disease. Sky One 1 x 60mins www.firecrackerfilms.com
Теги: Morquiose rare genetic condition disease skeleton never grow
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