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Title: Cracking the Code
Author: Stephen Damiani, Sally Damiani, Leah Kaminsky
Narrator: Sybilla Budd
Format: Unabridged
Length: 7 hrs and 1 min
Language: English
Release date: 07-15-15
Publisher: Audible Studios
Ratings: 4 of 5 out of 2 votes
Genres: Science & Technology, Medicine
Publisher's Summary:
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 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 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.
Members Reviews:
Must
This is a must read. The book combines the amazingly moving story of one family's fight to save their son with a fascinating insight into the future of medical diagnosis.
The leading edge and the bleeding edge of medicine. Voted most disturbing book of the year
ÂÂFor the pioneers who embrace the risk of failure as an incredible opportunity for successÂÂ (quotation from the book).
ÂÂPatients have the right to share their data if they want to.ÂÂ Eric S Lander, Geneticist, Broad Institute and MIT.
I am studying genomics at MIT and I know this. In theory. Iâve heard this over and over again:ÂÂthe revolution is on our doorstep, and yet hardly anyone knows.ÂÂ At MIT I have studied cases and problem sets involving genetics in a disease. Cancer, genomics and big data stories are all the rage in the news. Yet only a few people realize that the human body (down to the human cell) can be digitized like never before. Medicine, science and biology are now made of 50% wet lab and 50% dry lab (computer programming languages, big data). And molecular biology assays (wet lab) can be completely digitized. This is bound to change things in medicine. In the future.
Message number one in this book, and it really brought it home: the future is now.