Antioxidant Rescue of Nf1/Ras-Induced Myelin and Vasculature

83 Pages·2015·3.86 MB·English

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CCOORREE SScchhoollaarr
Neuroscience, Cell Biology & Physiology Faculty
Neuroscience, Cell Biology & Physiology
Publications
6-11-2012
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Debra A. Mayes
Wright State University - Main Campus, [email protected]
Tilat A. Rizvi
Shyra J. Miller
Rachel Oberst
Anat Stemmer-Rachamimov
See next page for additional authors
Follow this and additional works at: https://corescholar.libraries.wright.edu/ncbp
Part of the Medical Cell Biology Commons, Medical Neurobiology Commons, Medical Physiology
Commons, Neurosciences Commons, and the Physiological Processes Commons
RReeppoossiittoorryy CCiittaattiioonn
Mayes, D. A., Rizvi, T. A., Miller, S. J., Oberst, R., Stemmer-Rachamimov, A., & Ratner, N. (2012). Antioxidant
Rescue of Nf1/Ras-Induced Myelin and Vasculature Dysfunction. , 42-42.
https://corescholar.libraries.wright.edu/ncbp/1077
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AAuutthhoorrss
Debra A. Mayes, Tilat A. Rizvi, Shyra J. Miller, Rachel Oberst, Anat Stemmer-Rachamimov, and Nancy
Ratner
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PROGRAM BOOK
JUNE 9-12 • HILTON NEW ORLEANS HOTEL
NEW ORLEANS
CHILDREN’S TUMOR FOUNDATION
95 PINE STREET, 16TH FLOOR, NEW YORK NY 10005 | WWW.CTF.ORG | 212.344.6633

Dear NF Conference Attendees:

On behalf of the Children’s Tumor Foundation, welcome to the 2012 NF Conference. We are very pleased that you could
join us in beautiful, historic New Orleans for this important event. It is an honor to have over 300 doctors, scientists,
clinicians, and researchers in attendance to present the latest developments in neurofibromatosis (NF) research and
clinical care.

This year marks the first time that the NF Conference, a convention of the foremost experts in neurofibromatosis, and the
NF Forum, a patient and family symposium at which attendees learn more about the disorder and develop supportive,
personal relationships, will be held in conjunction. This will provide an unprecedented opportunity for the Forum to hold
family-targeted sessions, benefiting from the presence of many international physicians, researchers, and clinicians,
sharing the latest in medical advancements.

Five years ago we developed a strategic plan that addressed the vital need to accelerate the pace of NF research, to find
effective treatments for neurofibromatosis, and to improve the lives of those living with the disorder. In order to accomplish
this, we identified specific goals to target our resources: fund preclinical testing of drug candidates; establish a nationwide
network of NF clinics; establish a tissue repository; identify new NF biomarkers; and support pilot clinical trials.

Much of what we set out to accomplish has been successfully addressed: there are now 26 ongoing NF-specific
clinical trials; we are now funding preclinical testing of 50 candidate drugs through our Drug Discovery Initiative and
NF Preclinical Consortium; the NF Clinic Network now has 44 members, and growing, and is seeing a record number
of patients; we are funding three pilot clinical trials and improving trial design through our Clinical Research Awards;
and we are launching the NF Patient Registry, which is part of a larger effort by the National Institutes of Health to
create a rare disease registry. CTF will collaborate with the scientific and clinical community to identify drug candidates,
make connections to industry, and liaise where necessary to further diminish the time it takes treatments to leave the
laboratory and arrive at the clinic.

As we look forward to the next five years, our ambitious new strategic plan will commit $30 million to build upon
the successes of the past five years, focusing on the implementation of translational research that will lead to the
identification of even more rational clinical candidates. Our mission has not changed, and our goal remains the same - to
find effective treatments that will significantly improve the lives of those with NF.

Thank you again for attending and enjoy the conference!
JJoohhnn RRiissnneerr AAnnnneettttee BBaakkkkeerr
President Chief Scientific Officer
CONTENTS
Table of Contents
INTRODUCTION
The Friedrich von Recklinghausen Award: NF Tradition and Progress ...............................3
Foundation Staff .............................................................................................................4
National Programs..........................................................................................................5
INFORMATION
Schedule At-A-Glance ....................................................................................................6
Important Notes To Chairs, Speakers & Poster Presenters ...............................................7
Agenda ..........................................................................................................................8
Speaker Bios – Conference Chairs / Keynote Speakers / Patient Representatives ...........17
ABSTRACTS
Abstracts .....................................................................................................................20
POSTERS
Basic Research ............................................................................................................30
Clinical .........................................................................................................................50
APPENDIX
Participants ..................................................................................................................74
Cover Photo Credit: NewOrleansOnline.com
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. 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.
2012 Friedrich von Recklinghausen Award Recipient
We are delighted to announce that the recipient of the 2012 Friedrich von
Recklinghausen Award is David H. Gutmann, MD, PhD (Washington University).
Dr. Gutmann has a long-standing and preeminent role in neurofibromatosis
research and clinical care, and has long been involved with the Children’s Tumor
Foundation.
Dr. Gutmann was nominated for the Award by his colleagues in the
neurofibromatosis research community and will be presented with the Award at
the 2012 NF Conference on the evening of June 8th at the Welcome Dinner and Reception.
First awarded by the Foundation in 1989, the initial recipients of the Friedrich von Recklinghausen Award
included CTF’s Chair of Medical Affairs, Dr. Bruce Korf (University of Alabama), Dr. John Carey (University of
Utah) and current National Institutes of Health Director, Dr. Francis Collins. CTF did not issue the Friedrich von
Recklinghausen Award for a number of years, but revived the tradition in 2008. The following are the most
recent recipients of the Award, identified through a public nomination process:
2008 2009 2010
Vincent ‘Vic’ Riccardi, M.D., Luis Parada, Ph.D., Nancy Ratner, Ph.D.,
The Neurofibromatosis Institute University of Texas Southwestern Cincinnati Children’s Hospital
Medical Center
2012 NF Conference · New Orleans, LA · June 8-12, 2012 | 5
FOUNDATION STAFF
Children’s Tumor Foundation
Foundation Staff at the NF Conference
Research & Medical Programs
Annette Bakker, Ph.D. Chief Scientific Officer [e-mail]
Min Y. Wong Research Program Director [email protected]
Daniel Aiese Research Program Assistant [email protected]
Management & Finance
John W. Risner President ..................[e-mail]
Judi Swartout Chief Financial Officer [e-mail]
Development & Volunteer Relations
Rick Lepkowski Chief Development Officer [email protected]
John Heropoulos Vice President, New England Region [email protected]
Traceann Adams Director, NF Walk .....[e-mail]
Jill Beck Director, Racing4Research [email protected]
Sarah Coulam Director, NF Endurance [e-mail]
Patrice Pancza Program Director ....[e-mail]
Chad Leathers Program Director .....[e-mail]
Kelly Mills Regional Manager, Volunteer Relations [email protected]
Emily Phillips NF Endurance Manager [e-mail]
Bob Skold NF Endurance Coordinator [email protected]
Athina Moustakis Volunteer Relations Coordinator [email protected]
Amita Patel Volunteer Relations Coordinator [email protected]
Jessica Beckerman NF Walk Coordinator [e-mail]
Kristine Poirier Program Coordinator .[e-mail]
Sarah Ill Executive Assistant ......[e-mail]
Communications
Simon Vukelj Communications Director [e-mail]
Mary Vetting Communications Associate [email protected]
2012 Board of Directors
*at NF Conference
Stuart Match Suna, Chairperson* Daniel B. Gilbert Peggy Wallace, Ph.D.*
Dan Altman, Vice-Chairperson Daniel Graeff* (attending board meeting only) Nate Walker*
Linda Martin, Secretary John Golfinos, M.D. David Viskochil, M.D., Ph.D.*
John McCarthy, Treasurer* Bruce Korf, M.D., Ph.D., Chairman of Ed Stern*
Suzanne Earle, Chairperson Emeritus* Medical Advisory Committee*
Laura Ganio Bona Steven L. McKenzie* Honorary Directors
William Brooks* Joanne Pastel* Richard Horvitz*
Colin Bryar* Denise Pitzman Michie Stovall O’Day
John Catsimatidis Jason Pontin Harold Ramis
Mark Ebel Robert Schaffer* Alan Robbins, M.D.
Aram Fuchs* Tara Skirzenski Doris Schnuck
Tracy Galloway* Rachel Tiven Carolyn Setlow
6 | Children’s Tumor Foundation · Ending Neurofibromatosis Through Research
NATIONAL PROGRAMS
Children’s Tumor Foundation National Programs
NF Walk Program (www.nfwalk.org)
The Children’s Tumor Foundation NF Walk Program was established in 2009
as a national fundraising effort to support neurofibromatosis research, raise
NFWALK awareness, and provide support for individuals with NF and their families. A key
feature of the Walk program is that it is a community-based event organized
by local volunteers, which offers the opportunity for individuals, their families,
friends, neighbors, and organizations to join together, through a truly enjoyable
event, in the fight against NF. Every Step Makes a Difference.
NF Endurance Program (www.nfendurance.org)
NF Endurance offers the opportunity for individuals to participate in marathons,
triathlons, bike races, and other high endurance sporting events to raise money
for research, promote awareness, and provide a network of caring support for
those living with NF and their families. NF Endurance: iNFinite possibilities.
Racing4Research (www.racing4research.org)
Racing4Research (R4R) utilizes competitive, professional auto racing as a
vehicle to increase awareness of neurofibromatosis and raise funds for research
through corporate sponsorship, personal donations, and individual fundraising
by NF Heroes: children and adults from around the country who live with
neurofibromatosis. The program offers children and families living with the
disorder a uniquely empowering weekend, and has raised over $2 million dollars
since its inception five years ago. Fuel the Cure.
Cupid’s Undie Run (www.cupidsundierun.com)
Putting the hilarity back in charity, Cupid’s Undie Run is an entirely volunteer-
organized fundraiser that exists to benefit the Children’s Tumor Foundation. It
began in Washington D.C. in 2010 and has grown from a $10,000 event with 400
participants to 3,000 runners in six cities who raised nearly $400,000 in 2012.
Cupid’s is dedicated to fundraising for the Children’s Tumor Foundation through
fun, but “PG-13” means. “Fewer Clothes, More Funds!”
2012 NF Conference · New Orleans, LA · June 8-12, 2012 | 7
SCHEDULE
Schedule At-A-Glance
TIME EVENT LOCATION
Y 8 2:00 PM 6:00 PM Registration Grand Ballroom A (1st Floor)
DANE
RIU
FJ
8:00 AM 1:00 PM Registration Grand Ballroom A (1st Floor)
9:30 AM 9:40 AM Welcoming Remarks: John W. Risner, President Grand Ballroom A (1st Floor)
9:40 AM 9:55 AM CTF Updates: Annette Bakker, Ph.D., Chief Scientific Officer Grand Ballroom A (1st Floor)
10:05 AM 11:00 AM KEYNOTE 1: Luis Parada, Ph.D., University of Texas Southwestern Grand Ballroom A (1st Floor)
AY 9 11:00 AM 1:00 PM SESSION 1: Deciphering the Signaling Pathways of NF2 Grand Ballroom A (1st Floor)
RDE 1:00 PM 2:30 PM Lunch (On your own)
UN
TU 2:30 PM 4:00 PM SESSION 2: Genetics of Schwannomatosis: An Update Grand Ballroom A (1st Floor)
AJ
S 4:00 PM 6:00 PM SESSION 3A Concurrent: Optic Pathway Tumors Grand Ballroom A (1st Floor)
SESSION 3B Concurrent: Massively Parallel Sequencing –
4:00 PM 6:00 PM Grand Salon A (1st Floor)
Massively Parallel Results
6:00 PM 7:00 PM Poster Session & Reception with NF Family Forum Hilton Exhibition Center A (2nd Floor)
7:00 PM 9:00 PM NF Conference/Forum Awards Dinner Napoleon Ballroom (3rd Floor)
7:00 AM 9:45 AM NF Historic Walking Tour: With NF Family Forum Participants Hilton Hotel Entrance
10:05 AM 11:00 AM KEYNOTE 2: Rhona Mirsky, Ph.D., University College London, United Kingdom Grand Ballroom A (1st Floor)
11:00 AM 1:10 PM SESSION 4: Deciphering the Signaling Pathways of NF2 Grand Ballroom A (1st Floor)
Y 0
A1 1:10 PM 3:00 PM POSTER SESSION I (Clinical): Lunch (box lunch to be served) Hilton Exhibition Center A (2nd Floor)
DE
NN SESSION 5: Therapeutic Frontiers 1: NF1 Mouse Models
SUJU 3:00 PM 6:00 PM & Preclinical Study Development Grand Ballroom A (1st Floor)
6:00 PM 6:30 PM Break Grand Salon B (1st Floor)
6:30 PM 8:00 PM SESSION 6A Concurrent Abstract Platform Presentations: Clinical Grand Salon A (1st Floor)
6:30 PM 8:00 PM SESSION 6B Concurrent: Abstract Platform Presentations: Basic Research Grand Ballroom A (1st Floor)
8:00 AM 8:45 AM KEYNOTE 3: Silvia Cappello, Ph.D., Helmholtz Zentrum Grand Ballroom A (1st Floor)
München & Inst. for Stem Cell Research, Germany
8:45 AM 11:35 AM SESSION 7A Concurrent: NF and the Brain Grand Salon A (1st Floor)
SESSION 7B Concurrent: Therapeutic Frontiers 2: NF2
8:45 AM 11:30 AM Grand Ballroom A (1st Floor)
Mouse Models and Preclinical Study Development
11:30 AM 12:00 PM Break (Box Lunch to be Provided) Grand Salon B (1st Floor)
Y 1 12:00 PM 1:00 PM KEYNOTE 4: René Bernards, Ph.D., Netherlands Cancer Institute, The Netherlands Grand Ballroom A (1st Floor)
A1
ONDUNE 1:00 PM 2:30 PM (SBEoSxS LIOuNnc 8h: PMroavniadegde)ment of NF: Panel Discussion – Grand Ballroom A (1st Floor)
MJ 2:30 PM 5:00 PM SESSION 9: NF2 and NF1 Clinical Grand Ballroom A (1st Floor)
5:00 PM 5:30 PM Break Grand Salon B (1st Floor)
SESSION 10A Concurrent: Brainstorming – Speeding up
5:30 PM 7:30 PM Grand Ballroom A (1st Floor)
Interventions for NF2
5:30 PM 7:10 PM SESSION 10B Concurrent: Vascular Anomalies in NF Grand Salon A (1st Floor)
7:10 PM 8:30 PM Dinner Break (on your own)
8:30 PM 10:00 PM POSTER SESSION II (Basic Research) Hilton Exhibition Center A (2nd Floor)
KEYNOTE 5: Jan Tuckermann, Ph.D., University of Ulm & Leibniz
8:00 AM 8:45 AM Grand Ballroom A (1st Floor)
Institute for Age Research, Germany
8:45 AM 11:15 AM SESSION 11A Concurrent: NF1 Bone Abnormalities Grand Salon A (1st Floor)
SESSION 11B Concurrent: Cell Biology and Pathobiology
8:45 AM 11:15 PM Grand Ballroom A (1st Floor)
Y 2 of Schwannomatosis and Pain
A1
SDE 11:15 PM 1:00 PM Lunch (on your own)
UEUN 1:00 PM 3:30 PM SESSION 12 : Response Evaluation in Neurofibromatosis and Grand Ballroom A (1st Floor)
TJ Schwannomatosis (REiNS)of Schwannomatosis and Pain
3:30 PM 4:00 PM Break Grand Salon B (1st Floor)
SESSION 13: Therapeutic Frontiers 3: Preclinical Studies Guiding
4:00 PM 6:30 PM Grand Ballroom A (1st Floor)
Development of Novel Agents
8:00 PM 10:30 PM Closing Reception at Jazz Club The Bombay Club
8 | Children’s Tumor Foundation · Ending Neurofibromatosis Through Research