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Fall 2013 Issue TGen TodayFALL | 2013 A PUBLICATION OF THE TRANSLATIONAL GENOMICS RESEARCH INSTITUTE GRIDIRON GENOMICS S TUDY TACKLES BIOMARKERS ASSOCIATED WITH FOOTBALL CONCUSSIONS F ollow the Crowd Center provides TGen Clinical trials In Support of new hope for provide immediate Alzheimer’s children and patient benefit A Non-Profit Biomedical Research families Research Institute A Look Inside... Dear Friends, TGen scientists and doctors work tirelessly to provide those patients and their families who need our help the most with hope and answers. Of equal importance — and worthy of our thanks — are those civic-minded individuals and companies beyond the walls of our Institute who support our work through funding, events, and service on our Boards and Committees; a few are highlighted within these pages. Whether you are a child born with an unknown genetic disorder, a woman battling pancreatic cancer, a football player suffering from a concussion or a family coping with Alzheimer’s disease, by focusing on each individual’s unique genetic signature, TGen’s researchers are leading the way in the delivery of precision medicine, a bold new approach to more accurately diagnose and treat human disease. In this issue, you will read how precision medicine helped Pam Ryan, a Phoenix woman given just a few weeks to live following her pancreatic cancer diagnosis and how TGen physicians brought her hope and answers in the form of a breakthrough new treatment. The article detailing the benefits of this TGen-led clinical study appeared in the prestigious New England Journal of Medicine. Kendall Bayne’s story details the fight of a beautiful and talented South Carolina high school student whose family turned to TGen for help in her fight against adrenocortical carcinoma, a rare and aggressive cancer. Kendall’s family found hope and answers at TGen. Having successfully fought this disease for more than two years, Kendall has rallied her entire school and community through an effort called Team Kendall: Fight Like a Knight. Our cover story details how a collaborative of scientists from TGen, Arizona State University, Barrow Neurological Institute and A.T. Still University have teamed up to tackle the issue of sports-related concussions. Funded by Riddell, the industry leader in football helmet manufacturing, the study employs Riddell technology worn by ASU’s Sun Devil players that monitors and records head impacts and transmits it in real time to the scientific team working the sidelines of each ASU game. Perhaps no technology has connected people globally more than the Internet. The story of MindCrowd is more than an Internet story, though, it’s how scientists at TGen and the University of Arizona hope to attract 1 million people from around the world to participate in a unique study of short-term memory, the results of which may bring answers to the millions of families dealing with the heart break and loss created by Alzheimer’s disease. In closing, I hope you will consider your own role in bringing hope and answers by financially supporting TGen’s work through a gift to the TGen Foundation. I assure you that there is no better investment of your charitable dollars. On behalf of everyone at TGen, thank you for helping us make a difference — one patient at a time. Michael Bassoff President, TGen Foundation TGen Today - Fall 2013 A Publication of The Translational TGen Today Genomics Research Institute 8 Cover Story Gridiron Genomics Study tackles biomarkers associated with football concussions (Photo of ASU player by Peter Vander Stoep, Sun Devil Athletics) 8 2 Follow the Crowd TGen crowdsourcing website supports Alzheimer’s research with on-line memory test 4 Don Robinson APS honors native son, supports cancer research 2 4 5 T he Gift of Family A nephew is honored with the naming of a laboratory to fight rare childhood disorders 6 Hope in Action TGen’s Center for Rare Childhood Disorders provides 5 6 renewed hope for children and families 11 A Scientific First TGen researchers profile microRNA in cerebrospinal fluid using state-of-the-art sequencing technology 11 12 12 Coping with Cancer TGen clinical trials provide immediate patient benefit (Photo of Lynn Jacoby by Bill Bernstein) 16 TGen In-Brief News and notables 16 17 17 Guys Night Out Supporting TGen cancer research B ack MindCrowd Superhero C over ‘Wonder Woman’ Lynda Carter advocates TGen ‘MindCrowd.org’ study; urges everyone to take the test LIKE US FOLLOW US SUBSCRIBE $ DONATE facebook.com/helptgen twitter.com/tgen youtube.com/user/tgenvideo tgenfoundation.org or visit tgen.org or tgen.org/rss/news.xml or call (602) 343-8411 A bout TGen | Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based non-profit biomedical research organization dedicated to conducting groundbreaking research with life changing results. TGen is focused on helping patients with cancer, neurological disorders and diabetes, through cutting edge translational research (the process of rapidly moving research towards patient benefit). TGen physicians and scientists work to unravel the genetic components of both common and rare complex diseases in adults and children. Working with collaborators in the scientific and medical communities literally worldwide, TGen makes a substantial contribution to help our patients through efficiency and effectiveness of the translational process. For more information, visit: www.tgen.org. TGen Today - Fall 2013 | 1 F OLLOW THE C ROWD I n Support of Alzheimer’s Research Each day, countless people experience disease progresses, and how it can be halted periodic bouts of memory loss. This or even prevented.” occasional lapse in one’s recall ability — often Today’s technology helps by allowing referred to as a “senior moment”— occurs Dr. Huentelman and his research team to more frequently as we age. identify many of the genetic risk factors Where did I place the car keys? Where are associated with Alzheimer’s, and by providing my sunglasses? How did I forget the quart of a much-improved blueprint for selecting drug The knowledge milk on my mental grocery list? development targets. The hope is that these gained from this A slight decline in one’s memory genomics-informed targets will eventually test could help performance is expected as we age. But lead to better therapies and greater patient determine when the senior moments occur frequently benefit. enough to impair one’s ability to function on Certainly the ability to search the what triggers a daily basis, they could be the early warning entire human genome is a great start, but Alzheimer’s signs of Alzheimer’s. The nexus between the Dr. Huentelman knows it will take more disease — and senior moment and progressive memory than technology. With more than 5 million possibly — other loss due to Alzheimer’s disease is an area of Americans living with Alzheimer’s, it also research that intrigues and drives TGen’s Dr. will take the right type of data to inform his brain disorders. Matt Huentelman. studies — and that is largely driven by the For Huentelman, an Associate Professor right collection of research volunteers. in TGen’s Neurogenomics Division, and one of TGen’s leading experts in Alzheimer’s Going Social research, advances in genomic sequencing, brain imaging and other biomedical To help drive the research, Dr. technologies have significantly aided his Huentelman and his colleagues created research into the underlying biology of an online memory test they’re promoting memory and his studies into the genetic through a TGen crowdsourcing website: underpinnings of Alzheimer’s. mindcrowd.org. With a targeted sample size “It’s a big question,” Dr. Huentelman of 1 million people, this will provide a broad said. “We’re definitely on the path toward sampling of the human population across the the answers, but we’re still far from a entire aging continuum. complete understanding of the disease. In Since its launch in April, more than 23,000 addition to the genetic factors involved in people have completed the MindCrowd test. Alzheimer’s, we still need to understand the But to reach the goal of 1 million, researchers environmental risk factors, exactly how the will need many more volunteers. 2 | TGen Today - Fall 2013 “We’ve already had participants from more than 100 nations and every state in the U.S.,” Dr. Huentelman said. “I can’t help but feel that we need just a little luck to make it go viral and reach the 1 million mark.” B e Part of the Solution TGen, in collaboration with the University of Arizona and the Alzheimer’s Prevention Initiative, will use the MindCrowd test results to learn about the role of genetics in the memory test performance of healthy individuals. “Understanding brain performance in healthy people provides a glimpse of the natural spectrum of variation associated with aging, and that new knowledge could help us show what goes wrong in Alzheimer’s disease and possibly other brain disorders,” Dr. Huentelman said. Researchers now recognize that social networking and crowd sourcing can significantly power specific types of research projects. In many respects, they have demonstrable benefits over traditional volunteer recruiting approaches. “What makes MindCrowd unique is the large number of participants we plan The MindCrowd test consists of a series of word pairs. Participants review a to reach, and the eventual tie to genomic list of pairs and then receive a word cue to recall the word with which it was testing,” Dr. Huentelman said. originally paired. This simple word association tests a specific portion of the Dr. Huentelman is quick to note, however, brain to see how it works. that the anonymous, 10-minute test is neither a diagnostic tool for Alzheimer’s disease nor an indicator of future risk. It tests a very specific portion of the brain to see how it works.
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