Cracking the Code Leah Kaminsky

ISBN:

Published:

Kindle Edition

216 pages


Description

Cracking the Code  by  Leah Kaminsky

Cracking the Code by Leah Kaminsky
| Kindle Edition | PDF, EPUB, FB2, DjVu, AUDIO, mp3, RTF | 216 pages | ISBN: | 8.80 Mb

A family doctor shares a mother and fathers determination to save their sonThis story of a fathers search to find a diagnosis, and ultimately a cure, for his sons mystery disease is an inspiration that has set the world of genetic medicine andMoreA family doctor shares a mother and fathers determination to save their sonThis story of a fathers search to find a diagnosis, and ultimately a cure, for his sons 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 familys genome in an attempt to discover the cause of his sons illness and in the process developed a diagnostic tool that will revolutionise diagnoses and treatments of diseases as complex and rare as Massimos 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. Stephens 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 Massimos neurologist, Dr Rick Leventer at Melbournes 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 Massimos 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 Childrens 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.



Enter the sum





Related Archive Books



Related Books


Comments

Comments for "Cracking the Code":


margosklep.pl

©2010-2015 | DMCA | Contact us