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Diagnosing Rare Diseases

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Diagnosing Rare Diseases Diagnosing Rare Diseases Giving Families Hope Through DNA Testing, Crowdfunding and Access to Experts Rare Genomics Institute – www.RareGenomics.orgAna Sanfilippo Please consult experts and and medical personnel Jimmy for any medical conditions. Lin MD, PhD, MHS 1 “My son Nic would not be alive today without sequencing” - Amylynne Santiago Volker See their story on page 35 Rare Genomics Institute – www.RareGenomics.org Please consult experts and medical personnel for any medical conditions. 2 “We know we wouldn’t be here without her” - The Beery twins, talking about how their mother saved their lives with genomics See their story on Page 40 Rare Genomics Institute – www.RareGenomics.org Please consult experts and medical personnel for any medical conditions. 3 “Your job as a parent is to optimize your child’s options… One of the most important is to see a geneticist.” - Dr. Ada Hamosh – Johns Hopkins Hospital, Clinical Director of Genetic Medicine See her interview on page 82 Rare Genomics Institute – www.RareGenomics.org Please consult experts and medical personnel for any medical conditions. 4 John Crowley started a biotech company to save his children’s lives – and he did. See their story on page 56 Rare Genomics Institute – www.RareGenomics.org Please consult experts and medical personnel for any medical conditions. 5 TABLE OF CONTENTS 1. Rare Genomics Institute Overview .............................................................................................................................. 8 2. Demystifying Genomics ............................................................................................................................................. 15 3. How Does the Sequencing Process Work? ................................................................................................................. 27 4. Crowdfunding Your Genome Test .............................................................................................................................. 31 5. Rare Disease Family Case Studies .............................................................................................................................. 35 6. Interviews with Experts ............................................................................................................................................. 82 7. The Parent’s Toolkit .................................................................................................................................................. 99 8. Researching Rare Diseases ...................................................................................................................................... 119 9. Information For Medical Personnel ......................................................................................................................... 133 10. The World-Class RGI Research Team ..................................................................................................................... 138 11. RGI Results ............................................................................................................................................................ 148 12. How to Help .......................................................................................................................................................... 151 13. Media Coverage .................................................................................................................................................... 152 14. Appendix ............................................................................................................................................................... 155 15. About the Authors ................................................................................................................................................. 158 16. Contacts ................................................................................................................................................................ 159 Rare Genomics Institute – www.RareGenomics.org Please consult experts and medical personnel for any medical conditions. 6 Disclaimer © Copyright 2014 - Rare Genomics Institute (RGI) – All Rights Reserved - All The information in this eBook, Diagnosing Rare Diseases, and any other Rare Genomics copyrighted photos, logos etc., are property of their respective owners. In addition, Institute (RGI) eBook, is for educational purposes only. It should not be used for under any set of circumstances, no portion of this eBook may be distributed or personal diagnostic or treatment purposes. If you have questions regarding a medical excerpted without also including this disclaimer, in its full and unmodified form, at condition, always seek the advice of your physician or other qualified health care both the front and back of any such materials. professional. Rare Genomics Institute is a 501(c)(3) non-profit organization focused on diagnosing The content in this eBook is not, and should not be used as, as a source of medical and treating children with rare diseases and their families. Currently, it is under fiscal advice, or as a means of or resource for making medical, genetic or other decisions. sponsorship of a 501(c)(3) non-profit, Syndromes Without A Name (SWAN). You should contact an appropriate health care professional before making any such decisions. The editors, contributors and other persons and organizations affiliated with V3-002-031214 this eBook cannot and will not offer individual medical advice or other advice. Rare Genomics Institute While efforts have been made to include accurate and unbiased information in this 4100 Forest Park Avenue, Suite 204 eBook, we do not guarantee the accuracy or timeliness of any such information. We St. Louis, MO, 63108 encourage feedback concerning possible errors, but we accept no responsibility for any [email protected] errors, omissions or inaccuracies, or for any adverse consequences of any kind arising from the use of the content within this eBook. Unless stated otherwise, any links to third-party websites within this eBook do not amount to an endorsement of that site or its content. RGI is, within this eBook, providing certain information about rare diseases, genomics, case studies, and other information. The comments are based on professional suggestions, published experience, experiences of families of children with rare diseases, interviews and other materials, but do not represent therapeutic recommendations or prescriptions of any type. For any specific information and advice, consult your personal physician or other medical professionals. Any reference to a commercial or noncommercial product, process, service or company is not an endorsement or recommendation by the RGI or any contributor. Neither RGI nor any contributor endorses or recommends products, services or manufacturers. Neither RGI nor any other contributor assumes any liability whatsoever for the use or contents of any product or service mentioned. Neither RGI nor any other contributors are responsible for the contents of any “off-site” Internet information referenced by or linked to RGI's Internet website. The RGI website is for informational purposes only and is not a substitute for medical advice, diagnosis or treatment. We may link to websites, including those of third-party content providers, that have different privacy policies and practices from those of RGI. Neither RGI nor any contributor assumes any responsibility for the policies or practices of such linked sites, and encourage you to become acquainted with them prior to use. Rare Genomics Institute – www.RareGenomics.org Please consult experts and medical personnel for any medical conditions. 7 Click for Table of Content 1. Rare Genomics Institute Overview At Rare Genomics Institute (RGI), cutting-edge funding mechanism called crowdfunding, where many people donate small amounts, to help families with the cost of sequencing. technology in genome sequencing, and partner- ships with over 50 world-class scientists from top Dr. Jimmy Lin is the founder of Rare Genomics Institute and was the lead computational biologist for the cancer genome sequencing efforts medical institutions across the world, are drama- at Johns Hopkins. This sequencing of the first cancer exomes has helped tically changing the way rare diseases are diag- start a revolution in cancer genomics. After completing his MD/PhD at Johns Hopkins, Dr. Lin started Rare Genomics Institute, along with nosed and treated. Our non-profit has pioneered colleagues at Harvard and Yale. discoveries and treatments for children with rare diseases that no one could previously help and “If you have a sick child, it’s not a rare the opportunities are only accelerating. disease; it’s the only disease that matters.” RGI is more than just an organization: we are a community dedicated to There are over 30 million people in the US that suffer from rare diseases helping rare disease patients find a cure. We work alongside patients and over 300 million globally. According to the National Institute of and their families to guide them by providing tools, knowledge, and Health, rare and genetic diseases affect one in every ten Americans, and connections so that they can better understand their disease and help about 75% of rare disease patients are children. Despite the combined advance research towards a cure. We believe every one of our patients large number of people affected by rare diseases, only about 15% of
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