When Nic Volker was 2, his mother discovered an abscess on his rectum, and soon after, whenever he’d eat, his body would punish him by forming holes in his intestine. The once-healthy little boy’s condition led to a colectomy and mystified scientists for years until 2009, when he underwent DNA sequencing, which was then an […]
By Allison Proffitt July 29, 2016 | Researchers mining data in California’s cystic fibrosis (CF) newborn screening registry have identified an additional mutation that is linked to later onset disease, but is usually missed in newborn screening. “The more information you look for, the more you may be able to say about more unusual forms […]
Researchers are closer to finding a better way to treat children with a rare metabolic disorder called MPS I. It is caused by a deficiency of the key enzyme IDUA needed to break down complex sugars in cells. MPS I eventually leads to the abnormal accumulation of sugar debris and cell death. The two main […]
Huntsville, Ala. — HudsonAlpha Institute for Biotechnology is hosting a book discussion for “One in a Billion: the Story of Nic Volker and the Dawn of Genomic Medicine,” a compelling read that details the diagnostic odyssey of Nic Volker, a four-year-old boy with an unknown disease who was the first person on earth whose life […]
The Huntsville Medical Group Management Association (MGMA) welcomed Dr. David Bick and Meagan Cochran from the Smith Family Clinic to their Tuesday meeting. Introduced by Carol Aiken, clinic administrator and MGMA president, Dr. Bick and Cochran discussed using whole genome sequencing to diagnose individuals with rare and undiagnosed diseases and to also find better treatment options for […]
HudsonAlpha host “Genomics 101” on Capitol Hill Huntsville, Ala. — If you spell out every letter of your DNA– three billion bits of information for every human– how would you use it and why? Two nationally renowned genomics scientists from the HudsonAlpha Institute for Biotechnology presented “Genomics 101” to an audience of more than 50 […]
Over two-thirds of healthcare organizations say precision medicine is already having a measurable effect on patient outcomes, according to a new study from Oxford Economics and SAP. Read more at http://hitconsultant.net/2016/05/09/33609/?utm_campaign=coschedule&utm_source=twitter&utm_medium=hitconsultant&utm_content=Report:%20Precision%20Medicine%20Already%20Has%20Measurable%20Impact%20on%20Patient%20Outcomes
The HudsonAlpha Foundation has received a $50,000 gift from the James Cecil and Margaret G. Ashburn Family Foundation to support the Smith Family Clinic for Genomic Medicine. To recognize the foundation’s generous gift, the Check In/Check Out room is named in the Ashburn Family Foundation’s honor. “Cecil and Margaret would have been so proud that […]
Huntsville, Ala. — The story of a groundbreaking genomic medicine case led by HudsonAlpha researchers is now available. “One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine” (Simon & Schuster, April 2016), follows the diagnostic odyssey of Nic Volker, the first person to be saved by whole genome sequencing. […]
Howard Jacob, PhD, who made the decision to sequence Nic Volker while heading the genomics center at Medical College of Wisconsin, said that back in 2009, DNA sequencing was a research tool. Now it’s a clinical tool. “When we sequenced Nic, we had trouble getting published because everyone thought we were irresponsible,” said Jacob, now […]
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The Smith Family Clinic for Genomic Medicine in Huntsville Alabama has been established to use the power of genomics to solve undiagnosed and misdiagnosed cases and provide answers to families and physicians. The clinic’s mission is to provide the best positive medical experience and the information to make future health care decisions.
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