Inhaltsangabe
A family doctor shares a mother and father&;s determination to save their son. This 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 revolutionize diagnoses and treatments of diseases as complex and rare as Massimo&;s leukodystrophy to widespread diseases such as diabetes and cardiovascular disease. Previously, 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 unique 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 Adeline Vanderver at the Washington DC-based Centre for Genetic Medicine and her Myelin Disorders Program, they were able to locate several other children with the DARS mutation and have now moved on to the next phase of Mission Massimo, finding a cure. Cracking the Code is simultaneously a wonderful family memoir and the story of some mind-blowing discoveries in medicine.
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Über die Autorin bzw. den Autor
Leah Kaminsky is an award-winning physician and writer, the poetry and fiction editor at the Medical Journal of Australia, and online editor at Hunger Mountain. The author of several books, she conceived and edited Writer, M.D., an anthology of contemporary doctor-writers. She was recently shortlisted in the Faulkner-Wisdom Novel Writing Competition. She holds an MFA in creative writing from Vermont College of Fine Arts. Stephen Diamanti is the father of three young boys. He has a broad commercial background in the corporate sector and, more recently, in his own start-up businesses. He recently established the Mission Massimo Foundation which aims to accelerate the discovery of novel genetic variations responsible for pediatric white matter disorders and to translate these findings into clinical trials and treatments.
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Cracking the Code
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Paperback. Leah Kaminsky, Random House Australia. As seen on Australian Story on the ABCA 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 disease.Previously, 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 unique 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 cure.Cracking the Code is simultaneously a wonderful family memoir and the story of some mind-blowing discoveries in medicine. Paperback. Bestandsnummer des Verkäufers 9780857984661-SECONDHAND
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Cracking the Code by Leah Kaminsky, Stephen Damiani, Sally Damiani
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by Vintage Australia, 2015
ISBN 10: 0857984667
ISBN 13: 9780857984661
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Book, Paperback. Zustand: Used. Cracking the Code. These are USED books. Please only purchase if you are happy with that. Images & Editions We use stock images and database descriptions based on the ISBN. The image shown may NOT be the actual book cover you will receive. Covers, editions, printings, and publishers may differ. If you need a specific cover, edition, or printing, please contact us before purchasing. What ?Used? Means Because these books are pre-owned: Colouring books may be coloured in Textbooks may have answers filled in, highlighting, notes, or underlining Workbooks may have writing inside Access codes, download codes, CDs, DVDs, or online content are usually missing or already used Books that originally came with toys, inserts, maps, cards, or bonus items will usually NOT include them Pages may be folded, marked, or show normal signs of use If you are buying a book for anything other than reading (e.g. colouring, study use, collecting, gifts, specific covers, bonus items, or digital access), used books may not be suitable. Condition All books are listed as Used ? Good Books are clean and readable but not new Some books may have: Writing, highlighting, or markings Folded pages or minor wear A small warehouse or inventory sticker on the spine Original retailer stickers (we do not remove them) Our Process We purchase books by the pallet and scan thousands at a time. For this reason, we cannot photograph or individually inspect every book. Acknowledgement By purchasing, you acknowledge that: You understand the book is used You accept the condition and limitations described above Stock images and descriptions may not exactly match the item received Thank you for supporting Oak Books and helping give books a second life. Bestandsnummer des Verkäufers CU65_FO4
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