Friday, May 5, 2017

Life with a Rare Genetic Disease: The science, the suffering and the Hope

Life with  a rare genetic diseases sometime can be nasty, brutish and long. Taking the ordinary difficulties of getting through the day and add loss of motor function, a deteriorating memory or block vein in the liver and a body so swollen with lymphatic fluid that cloth  and shoe no longer fit. this is a life of family member with mysterious illness which cause by "the family gene" and occasionally beset by incorrect explanation of the science. BRCA1, for example , is not a gene variant but rather a gene that can harbor any one of hundreds of rare variant or DNA spelling error, that would raise the woman's risk of breast  or ovarian cancer. for it part," mercie in disguise" sometime suffer from general humorlessness and heavy handed prose  but the patient would have deal with. while the cost of  DNA sequencing has drop and  which also help many rare-disease patient and their families find answer to question "why me?". But the completion of the human genome project is not the answer however it would let human understand our history and genetic better and find the solution.

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