END NF 2017 NF CONFERENCE From Process to Progress JUNE 10-13, 2017 | RENAISSANCE WASHINGTON, DC DOWNTOWN HOTEL Dear NF Conference Attendees: The Children’s Tumor Foundation strongly believes in collaboration—the kind that blossoms from meeting your peers, getting to know them, learning from them, and ultimately, connecting with them on a level that can only result from face-to-face interaction. Although the world of virtual communication—iPhones, Facebook, e-mail, Snapchat, Skype, Instagram (and much more)—has gained a lot of traction, I am an old-fashioned European who very much believes in authentic human connections. I am convinced that in order to build tangible, working collaborations and turn process into progress, trust is the ultimate key, and it is impossible to build trust with those you do not genuinely know. It is because of this principle that bringing those from the NF community together to mingle, share data, exchange knowledge, share projects and dreams, and simply enjoy one another’s company is very high on the Foundation’s priority list. This is what we aim to accomplish every year with the NF Conference, and this year in Washington, D.C. will be no exception! The Foundation is not alone in its gratitude for the annual NF Conference. At our Research Strategic Planning Retreat last fall, I was very happy to learn that a dynamic group of Board members and experts from both the NF community and other rare disease communities agreed that it should remain a top priority of the Foundation’s—and it will. Our conference is unique. Due to the heterogeneity of NF, it does not belong in one disease area, but in many, such as neurology, oncology, orthopedics, psychology, and many others. There is no other opportunity in the world for all of these diverse NF experts to meet and exchange their ideas, and to do so in an environment that encourages and cultivates these joint efforts. Although a number of collaborations in NF research began at the conference, we are particularly proud of Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) getting its start at this remarkable forum. After having been a part the conference for over five years, I have pondered over the same interesting observation. Every year people tell me, ‘this was the best conference yet.’ We strive to make the conference the ‘best yet’ every year, and although it is indeed a costly operation, we are delighted to have the good fortune of reenergizing our NF community every year through this premier event. We cannot wait to see what this year has in store, and the fresh energy that it will bring! Lastly, don’t forget that next year we are crossing the Atlantic and bringing the NF Conference to Paris, France, an endeavor that is sure to give the conference the global presence it deserves. As the NF Conference itself expands, so will the amount of lives we change through our unwavering efforts to end NF around the globe. We are in D.C. today and Paris tomorrow, but we ceaselessly push the process and achieve progress as we search for the cure. Enjoy! ANNETTE BAKKER President and Chief Scientific Officer 2017 NF Conference · Washington, DC · June 10-13, 2017 | 3 CONTENTS Table of Contents INTRODUCTION The Friedrich von Recklinghausen Award: NF Tradition and Progress .......................................5 2017 Excellence in Team Science ...........................................................................................6 Foundation Staff .....................................................................................................................8 National Programs..................................................................................................................9 INFORMATION Schedule At-A-Glance ..........................................................................................................10 Important Notes To Chairs, Speakers & Poster Presenters .....................................................11 Agenda ................................................................................................................................12 Speaker Bios – Conference Chairs / Keynote Speakers ........................................................18 SPEAKER ABSTRACTS Abstracts .............................................................................................................................21 POSTER ABSTRACTS Basic Research ....................................................................................................................53 Clinical .................................................................................................................................78 ANCILLARY MEETINGS NF Clinics Breakout Session ...............................................................................................119 International Neurofibromatosis Autism Consortium Team (INFACT) ....................................120 APPENDIX Participants ........................................................................................................................122 Floor Plan ..........................................................................................................................126 City Map ............................................................................................................................127 Restaurant Guide ................................................................................................................128 Acknowledgements ............................................................................................................130 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. 2017 Friedrich von Recklinghausen Award Recipient It is with great pleasure that the Children’s Tumor Foundation announces the 2017 recipient of the Friedrich von Recklinghausen Award, Karen Cichowski, PhD, Professor of Medicine at Harvard Medical School and Brigham and Women’s Hospital, and Chair and Scientific Director of the Neurofibromatosis Preclinical Consortium. Dr. Cichowski is a true thought leader in the neurofibromatosis field and has a longstanding record of excellence in NF1-related research, ranging from basic discoveries to translational output. Her lab has been focusing on understanding how NF1 functions on a cellular level in sporadic tumors, and tumors that develop in NF1 patients, and has leveraged this insight to suggest new targeted cancer therapies. She has also made major contributions to the field of NF1 tumorigenesis study, neurofibromin regulation, and the PCR2 complex. In addition, Dr. Cichowski has changed the field of NF research through her in depth studies of the RAS pathway and the discovery of a number of new negative feedback mechanisms. She showed that preclinical therapy of cancer in mice with a specific combination of targeted therapies affecting different consequences of RAS activation has a very strong therapeutic effect. Karen Cichowski has also been at the forefront of developing new therapies for the most devastating tumors associated with NF1: malignant peripheral nerve sheath tumors (MPNSTs). Her work has led to multiple clinical trials that are ongoing or under development, and has provided clarity on the biology of these aggressive tumors. This work has been fundamental to moving the field forward, and the paradigm of pre-clinical studies in her lab has provided an incredible framework for thinking about the partnership between basic and clinical research, which is a fundamental goal of the Children’s Tumor Foundation. The following are the most recent recipients of the Award: 2008 2009 2010 2012 2013 2014 2015 2016 Vincent ‘Vic’ Riccardi, Luis Parada, PhD, Nancy Ratner, PhD, David Gutmann, MD, Brigitte Widemann, MD Gareth Evans, MD Eric Legius, MD, PhD David Viskochil, MD, MD, University of Texas Cincinnati Children’s PhD, National Cancer St. Mary’s Hospital, University of Leuven, PhD The Neurofibromatosis Southwestern Hospital Medical Washington Institute U. of Manchester, UK Belgium University of Utah Institute Center University 2017 NF Conference · Washington, DC · June 10-13, 2017 | 5 2017 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 initiated the Excellence in Team Science Award in 2016, and we are thrilled to present this award again in 2017. Launched in 2014, Synodos for NF2 is a multi-year initiative that has assembled a team of researchers from twelve world-class labs and medical centers. This comprehensive, collaborative model brought together experts in basic, translational, and clinical research, who have joined forces to share information, free of bureaucratic obstacles and institutional competition. The most common medical issues were identified by NF2 patients, proposals were sought from the entire research community, and strategies that have a higher probability of finding solutions were designed. The brightest minds in the NF field are now working on these solutions