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Nic's Story
Nic's story is about an incredibly resilient little boy, his fiercely supportive family, and an interdisciplinary team of physicians and researchers who refused to give up as they searched for an explanation, and treatment, for his mysterious bowel disease. In the end, they resorted to cutting edge DNA sequencing technology to sequence Nic's protein–coding genes in an effort to identify the molecular cause of his disease. This ground–breaking genomic sequencing effort led to the identification of a single G to A mutation in Nic's XIAP gene as the likely cause of his illness.
Nic's story was documented in an outstanding series of articles and videos entitled One in a Billion, a boy's life, a medical mystery,by the news team of the Milwaukee Journal Sentinel. Their story – Nic's story – was awarded the 2011 Pulitzer Prize in explanatory reporting.
The 2012 Science Olympiad Protein Modeling Event will focus on the XIAP protein, and its partner proteins involved in Nic's immune response and regulation of apoptosis.
About Nicholas Volker
Nicholas Volker is both extremely unlucky, and lucky, at the same time. He is unlucky in that he is a boy, and therefore he has only one X chromosome. That would be OK, except that the XIAP gene on that single X chromosome has a mutation that prevents the XIAP protein from performing its normal function. He is unlucky in that this defective protein resulted in an aggressive bowel disease that did not respond to conventional medical treatments.
But on the other side of his lucky coin, Nic was born into a family that refused to accept that doctors could not diagnose and treat his illness. And as a result, after many doctor visits and hospital stays, Nic and his family were lucky to find themselves in the care of a team of physicians and translational researchers at the Medical College of Wisconsin. Nic is also lucky to have been born in 2005. Four years earlier, in 2001, the first human genome had been sequenced – – at a cost of ~ 600 million dollars. Nine years later, in 2010, when Nic was five years old and his doctors were running out of options to diagnose his disease, this DNA sequencing technology had developed to the point that a research team at the Medical College of Wisconsin's Human and Molecular Genetics Center were able to sequence his protein-coding genes. And as a result they were able to identify the single nucleotide change in one of his genes – literally one in a billion – that was responsible for his disease. And the rest is history – documented in the Milwaukee Journal Sentinel articles and videos linked below.
Milwaukee Journal Sentinal Story
Article 1: A Baffling Illness
Article 2: Sifting Through the DNA Haystack
Article 3: Gene Insights Lead to a Risky Treatment
