2016 NF CONFERENCE “YOU’VE GOT THE POWER!” June 18-21, 2016 JW Marriott Austin, TX NF CONFERENCE 2 | Children’s Tumor Foundation · Ending Neurofibromatosis Through Research Dear NF Conference Attendees: Welcome to Austin—the capital of Texas, the live music capital of the world, and for these next three and a half days, the capital of NF research! We are thrilled to be with you all in such a thriving city, an ideal location for the greatest minds in NF research to congregate, collaborate, and make strides towards ending NF. This year’s 2016 NF Conference, brief neighbors of the NF Patient Forum, is based on the larger premise that you, along with the incredibly brave NF patients and their families, have the power to end NF. There are three core principles of the NF Conference that drive this premise: creating new networks and friendships for attendees; bringing patients, researchers and clinicians face- to-face, and ensuring that we at the Foundation continue to use this event as a platform to stimulate collaborative NF research, and to showcase our incredible progress. Moreover, at this Conference, there will be the first open data release in NF. It is only as a team that we can succeed! It is you, our friends and colleagues, and your dedication to NF research, who have made this progress and promise a reality. You represent the expansive, and often unpredictable spectrum that encompasses science, and within the singularly difficult realm of NF research. It is you who have made all of the accomplishments in NF since last year’s Conference possible, and it is you who will foster further accomplishments this year and beyond. These accomplishments have been powerful beyond words. In the past year, and after seeing the tremendous success of the NF Therapeutic Consortium (NFTC) and Synodos for NF2, the Foundation kicked off three Synodos for NF1 projects and officially launched the call for Synodos for Schwannomatosis. This means that more of you are seeing the value of collaborative science, and are becoming a part of the Synodos network! You will hear more about Synodos and all of our team science during the Conference. We are proud to show the world that in our community team science is not a new concept; we started team science in 2008 and have shown repeatedly that it delivers. We have also formed the Business Advisory Council, so we can look towards the future and pave the way for new partnerships to add to our incredible network of researchers, doctors, clinicians, donors, and patients. And once again, by combining the Conference and the Forum we offer you the chance to show your work to a community who so deeply needs and appreciates it. No matter how many failed experiments you encounter or how many hypotheses disappoint you, I can promise you that interacting with the patients will give you the motivation you need to accelerate the pace of progress to bring the best drugs to clinical trials, and in time, to those patients. And last, but not least, I want to offer my sincere thanks to our dedicated Conference co-chairs, Michael Fisher and Eduard Serra, who brought their sheer enthusiasm, innovation, and pure smarts to the task of creating an NF Conference for the books! I don’t want to forget my dear teammate: Patrice Pancza for whom nothing was too difficult, too complicated, or too late! Thank you all! I truly do hope this year’s NF Conference sparks creative ideas for each and every one of you, and leaves you feeling like you have the power to change the lives of those with NF. Together, I know we can! Cheers, ANNETTE BAKKER President and Chief Scientific Officer 2016 NF Conference · Austin, TX · June 18-21, 2016 | 3 CONTENTS Table of Contents INTRODUCTION The Friedrich von Recklinghausen Award: NF Tradition and Progress .......................................5 2016 Excellence in Team Science ...........................................................................................6 Foundation Staff .....................................................................................................................7 National Programs..................................................................................................................8 INFORMATION Schedule At-A-Glance ............................................................................................................9 Important Notes To Chairs, Speakers & Poster Presenters .....................................................10 Agenda ................................................................................................................................11 Speaker Bios – Conference Chairs / Keynote Speakers ........................................................18 SPEAKER ABSTRACTS Abstracts .............................................................................................................................21 POSTER ABSTRACTS Basic Research ....................................................................................................................47 Clinical .................................................................................................................................73 ANCILLARY MEETINGS NF Clinics Breakout Session ...............................................................................................101 International Neurofibromatosis Autism Consortium Team (INFACT) ....................................102 APPENDIX Participants ........................................................................................................................105 Floor Plan ..........................................................................................................................111 4 | Children’s Tumor Foundation · Ending Neurofibromatosis Through Research The Friedrich von Recklinghausen Award: Neurofibromatosis Tradition and Progress The Children’s Tumor Foundation’s Friedrich von Recklinghausen Award is given to individuals in the professional neurofibromatosis community who have made significant contributions to neurofibromatosis research or clinical care. It is named after Friedrich Daniel von Recklinghausen (1833-1910), the German physician who first described ‘von Recklinghausen’s disease’ – what we now know as neurofibromatosis type 1. 2016 Friedrich von Recklinghausen Award Recipient It is with great pleasure to announce the recipient of the 2016 Friedrich von Recklinghausen Award, Dr. David H. Viskochil. For three decades, with the tremendous commitment and dedication, Dr. Viskochil has contributed invaluably to every aspect of the neurofibromatoses, from the lab, to the clinic, to academia. His research accomplishments, including helping to identify the NF1 gene, his mentoring skills, his administration of national and regional programs, and most important, as a caring and unwavering advocate of the NF patient – all these qualities define him as most worthy of this prestigious award. Dr. Viskochil has been involved in the activities of the Children’s Tumor Foundation for many years, and serves currently on the Board of Directors, the Foundation’s Medical Advisory Committee, and is chair of the CTF Clinical Care Advisory Board. One very notable contribution and much deserving of attention, was Dr. Viskochil’s idea of, and ongoing support for, the Children’s Tumor Foundation’s NF Camp for children and teens in the canyons of Utah. For 20 years now, countless young NF patients have spent a glorious week of fun and friendship at the NF Camp in an atmosphere of great support and encouragement. A highlight of their week is a visit to the camp by Dr. Dave for a lively session of Q&A, which is a thing to behold. It cannot be understated that countless young lives have been transformed by this experience. For this and so many other contributions to the entire NF community, please join us in congratulating Dr. Dave Viskochil for this much-deserved award. The following are the most recent recipients of the Award: 2008 2009 2010 2012 2013 2014 2015 Vincent ‘Vic’ Riccardi, Luis Parada, PhD, Nancy Ratner, PhD, David Gutmann, MD, Brigitte Widemann, MD Gareth Evans, MD Eric Legius, MD, PhD MD, University of Texas Cincinnati Children’s PhD, National Cancer St. Mary’s Hospital, University of Leuven, The Neurofibromatosis Southwestern Hospital Medical Washington University Institute U. of Manchester, UK Belgium Institute Center 2016 NF Conference · Austin, TX · June 18-21, 2016 | 5 2016 Excellence in Team Science Award In recognition of the value and impact of the Children’s Tumor Foundation’s growing portfolio of team science initiatives, we are launching for the first time the Excellence in Team Science Award. In 2008, the Foundation initiated its first consortia-based program, the NF Preclinical Consortium, and though it ended in 2013 the NF Therapeutic Consortium (NFTC, 2013-2016) was created as a continuation of the NFPC, was co-funded by NTAP and was completely built on existing infrastructure and collaborations from NFPC. These preclinical consortia have shown the impact for improvement of NF treatment by facilitating new clinical trials that are based on mechanistic scientific data. This has undoubtedly increased over time through routine interactions between the Consortium and clinical investigators. The existence of the NFPC/ NFTC has changed the NF clinical trials landscape by promoting trials that hone scientific rationale thereby increasing the chance of optimizing care improvements. In addition, their work has not only led to Selumetinib, the first ever NF drug that is in registration