Cracking the Code PDF/EPUB Ü Cracking the Epub /

Cracking the Code The subject matter of this book was fascinating and I was amazed at what this family managed to achieve in the medical and scientific worlds for the sake of their son but the writing uality wasn't the best I found it difficult to follow the book at times primarily because the writing jumped around a bit But it was an AMAZING book and anyone interested in medical and scientific advances would find it interesting I believe This book is brilliant As someone with an interest in genetics who works with children with disabilities I was entranced by the family's passion to find out what was wrong with their son and how to help himAnd they are Australian though it took some of the world's best minds to solve the problem A family doctor shares a mother and father's determination to save their sonThis story of a father's search to find a diagnosis and ultimately a cure for his son's mystery disease is an inspiration that has set the world of genetic medicine and research abuzz with the possibilities for the future After Cracking the Code screened on Australian Story Stephen Damiani and his extraordinary ordinary family have been inundated with messages of support for Mission Massimo Stephen has a background in construction economics and risk management He teamed with geneticist Ryan Taft to map his family's genome in an attempt to discover the cause of his son's illness and in the process developed a diagnostic tool that will revolutionise diagnoses and treatments of diseases as complex and rare as Massimo's leukodystrophy to widespread diseases such as diabetes and cardiovascular diseasePreviously trying to find a specific gene mutation that might be responsible for a disease was a million times harder than finding a needle in a haystack Stephen's suggestion that Ryan align the genomes or DNA blueprints of himself his wife Sally as well as Massimo to find any uniue variations and thereby create a smaller haystack was previously untried Stephen convinced Massimo's neurologist Dr Rick Leventer at Melbourne's RCH that it was just a case of technology statistics data and money but that it could be done Once Taft was able to locate and isolate the specific genetic mutation of Massimo's DARS gene the hunt was on to find other children with the same genetic mutation so that the diagnoses could be confirmed With the help of Dr Adeline Vanderver at the Children's National Hospital in Washington DC along with Prof Marjo van der Knaap and Dr Nicole Wolf in Amsterdam they were able to locate several other children with DARS mutations and have now moved on to the next phase of Mission Massimo finding a cureCracking the Code is simultaneously a wonderful family memoir and the story of some mind blowing discoveries in medicine

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