Members of the community gathered at HudsonAlpha today for a book discussion about “One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine.”
“One in a Billion” is a compelling read detailing the diagnostic odyssey of Nic Volker, a four-year-old boy with an unknown disease who was the first person on earth whose life was saved through genomic sequencing. 
HudsonAlpha faculty investigators Howard Jacob, PhD; Liz Worthey, PhD; David Bick, MD; and Joe Lazar, MD, PhD; were all involved in this major scientific breakthrough and lead the discussion, each speaking about their role in the groundbreaking genomic medicine case. Lynne Berry, executive director of the HudsonAlpha Foundation served as moderator for the discussion.
“This is really the story of us trying to save a young boy’s life,” said Howard Jacob, HudsonAlpha executive vice president for genomic medicine.“Finding a diagnosis for Nic through genome sequencing was a one in a billion shot, but it was a shot we had to take because it may have been the last chance at saving his life. How do you not do it?”
Jacob sought out the help of Bick, Lazar, and Liz Worthey. The team had to get the sequencing approved, perform the sequencing, and then a software program had to be created to analyze variants to help the team identify what was making Volker sick. The software, created by Worthey, was named Carpe Novo, Latin for “seize the new.” The team identified the variant and diagnosed Volker with XIAP deficiency, a rare primary immunodeficiency. It was treatable.
“One in a Billion” is available from Amazon, Barnes & Noble, Books-A-Million, IndieBound and will be in select regional bookstores soon.
