Wednesday, May 6, 2015

Cracking the code

Cracking the code by
Sally & Stephen Damiani, Leah Kaminsky

This is a beautifully written story of a father's search to find a diagnosis, and ultimately a cure, for his son's (Massimo) mystery disease. Massimo succumbed to a mystery disease. In the space of a few weeks, the toddler lost the ability to eat and crawl. The prognosis was bleak and the cause mystifying.

It’s the story of how a man teamed with geneticist 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 his son’s leukodystrophy. This is also a story that is an inspiration that has set the world of genetic medicine and research abuzz with the possibilities for the future.

But first, in the way of a brief background; the Human Genome Project was an international research effort to determine the sequence of the human genome and identify the genes that it contains. This project began in 1990 and was completed in 2003, 2 years ahead of its original schedule. The work of the Human Genome Project has allowed researchers to begin to understand the blueprint for building a person. As researchers learn more about the functions of genes and proteins, this knowledge is envisioned to have a major impact in the fields of medicine, biotechnology, and the life sciences.

Even though this isn’t a story about the use of a reference genome (as a representative example of a species' set of genes) it is very much about locating and isolating the specific genetic mutation of Massimo's DARS (aspartyl-tRNA synthetase) gene.

Cracking the Code screened on Australian Story Stephen Damiani and his extraordinary ordinary family in 2013. 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. The Damiani family teamed with geneticist Ryan Taft to map their family's genome in an attempt to discover the cause of their son's illness. Stephen (dad) suggested that Ryan align the genomes of himself, his wife Sally as well as Massimo, to find unique variations and thereby create a smaller haystack was previously untried. Stephen convinced Massimo's neurologist, Dr Rick Leventer at Royal Children's Hospital Melbourne 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 the same mutations and have now moved on to the next phase of Mission Massimo: finding a cure.

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