Cracking the Code

Author(s): Stephen Damiani

General Health

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 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 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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Leah Kaminsky, an award-winning physician and writer, is 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 (Vintage Knopf US 2012). She was recently shortlisted in the Faulkner-Wisdom Novel Writing Competition. She holds an MFA in Creative Writing from Vermont College of Fine Arts. Leah has been the Damiani's family physician since Massimo was born and was the first one to be alerted to the fact that there was some kind of problem when he was an infant. Stephen is the father of three young boys Massimo, Leonardo and Marco. Stephen has a broad commercial background in the corporate sector and more recently in his own start-up businesses. Stephen started his professional career in the construction industry as a Chartered Quantity Surveyor working on large infrastructure projects in Australia and the Asia Pacific region. He went on to specialise in Strategy and Risk Management working on national telecommunications and broadband infrastructure projects. Stephen has no college level training in biomedical arena but has had to learn much about genetics and bioinformatics over the past four years. He is very keen to see the promise of the human genome project deliver diagnostic and therapeutic benefits over the next decade. Stephen recently established the Mission Massimo Foundation which aims to accelerate the discovery of novel genetic variations responsible for paediatric white matter disorders and to translate these findings into clinical trials and treatments.

General Fields

  • : 9780857984661
  • : Random House Australia
  • : Vintage (Australia)
  • : 0.38
  • : December 2014
  • : 231mm X 152mm X 21mm
  • : Australia
  • : April 2015
  • : books

Special Fields

  • : Stephen Damiani
  • : Paperback
  • : Apr-15
  • : en
  • : 616.84
  • : General Adult
  • : 272