Multiple Hereditary Exostoses: Insights Into Pathogensis
Was held November 3–5, 2005
Conference Program
This conference is being organized by the following:
Yu Yamaguchi, M.D., Ph.D., Professor Developmental Neurobiology Program,
The Burnham Institute, La Jolla, CA
Dominique Stickens, Ph.D.,  Senior Research Biologist, Merck Research Laboratories, NJ
Sarah Ziegler, Vice President, National Director of Research, MHE Research Foundation.
The conference will be held in Orlando FL on Wednesday July 8, 2009 through Saturday July 11, 2009
These dates may be subject to change due to other relevant conference dates that have not been set.
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What is Multiple Hereditary Exostoses? it is a debilitating disorder characterized by benign bone tumors and
skeletal malformations that persist throughout life.

The disease can be debilitating when the exostoses compress soft tissues, such as surrounding muscles, nerves
and blood vessels.  In addition, some HME patients develop malignant chondrosarcoma.

The only known treatments for HME are surgical removal of the exostoses, (which often grow back at the original
site) and surgical procedures to correct bone deformities and limb length discrepancies.  Surgery, physical therapy
and pain management are currently the only options available to HME patients, and their success varies from
patient to patient and many struggle with pain, fatigue and mobility problems throughout their lives   

ORTHOPAEDICS AND CLINICAL GENETICS Chair (Christine Alvarez)
EXT FUNCTION AND NON-MAMMALIAN MODELS Chair (Scott Selleck)
BONE DEVELOPMENT Chair (Dan Wells)
EXOSTOSIS / DEVELOPMENT  Chair (Jacqui Hecht)
NON-BONE PHENOTYPES Chair (Yu Yamaguchi)
The ABC’s of MHE: Chair (Sarah Ziegler)

The objective of the conference, were again to establish a clinical and research community devoted to
understanding and treating Hereditary Multiple Exostoses (HME).  This was accomplished by bringing together
basic researchers from various disciplines, orthopedic physicians, medical geneticists, and families with HME.  
The meeting facilitated discussions and collaborations both among and between all groups, accelerating the
integration of current knowledge and identifying new areas with future research potential. The conference plan
and the selected meeting site were both designed to encourage dissemination and discussions of new ideas
and the establishment of new collaborations between laboratories.

Understanding of HME is just at the point where we can begin to make major inroads toward better diagnosis,
treatment, and possible cure.  While the last few years have brought real gains in our understanding, many
issues remain unanswered.  What signaling pathway is compromised at the growth plate when heparan sulfate
synthesis is reduced? Why does complete loss of EXT1 or EXT2 function produce overt malignancy?  Are there
ways to restore heparan sulfate levels to normal values and repress the growth of the benign tumors?  Might
the malignant disease be ameliorated by restoring heparan sulfate synthesis in transformed cells?  What can
this disease tell us about the fundamental mechanisms of bone growth and remodeling?

Composition of Organizing Committee
Dan Wells, Ph.D., Professor at the University of Houston
Dr. Wells is the former Chair of the Department of Biology and Biochemistry and the director of a NSF funded
summer research program.  He is currently President of the UH Sigma Xi Chapter and serves as a Scientific.
He has helped organized multiple small meetings and symposia.  Over the past fifteen years, Dr. Wells has 30
publications relevant to HME. Among his accomplishments in the HME field, Dr. Wells, together with Dr. Hecht,
was the first to genetically map the EXT1 gene to 8q24.1.  In addition, he positionally cloned and subsequently
analyzed the EXT1 gene and developed the first knock-out mouse model for HME.  Dr. Wells’ current research
is aimed at understanding the molecular signaling involved in the etiology of HME.

Jacqueline Hecht, Ph.D., Professor at the University of Texas-Houston Medical School
Dr. Hecht is the Director of the Genetic Counseling Program, Department of Pediatrics, Division of Medical
Genetics.  She is a Ph.D. medical geneticist who provides clinical diagnostic expertise for all types of birth
defects and specializes in skeletal dysplasias and HME.  Her research has focused on identifying the molecular
causes of HME and the effect of EXT mutations on the development of the exostoses.  She has a strong
interest in cartilage biology and studied the expression of cartilage-specific genes in the exostoses.  

Sarah Ziegler, National Director and Coordinator of Research, Executive Director of the National
MHE Registry.      
Ms. Ziegler has been the driving force in developing a growing network of MHE researchers and clinicians that
has resulted in several successful collaborations.  She has been very involved in organizing researchers and
physicians interested in the EXT gene, heparan sulfate formation, and developmental biology.  Under the
auspices of the National MHE registry samples of exostoses and other reagents are being studied in several
laboratories to understand the etiology of the disease and potential mechanisms for controlling the growth of
the exostoses.

Ms. Ziegler has collaborated with researchers, developing questionnaire studies and obtaining participants from
its membership.  Studies include “Hereditary Multiple Exostoses and Pain: To what extent is pain associated
with HME?” with the Jacqueline T. Hecht, Ph.D., University of Texas Houston Medical Center, the results of
which indicated that pain in HME has been under-appreciated and must be addressed in the medical care of
HME patients and with Yu Yamaguchi, M.D., Ph.D. of the Burnham Institute on “The Possible Relationship of
Heparan Sulfate and Nerve Cell Function to Neurological Clinical Symptoms in patients with Multiple Hereditary
Exostoses.”

Timing of this conference to the scientific and medical communities
There are no other meetings that focus on the EXT genes and so this meeting had a critical role as a forum for
dialogue and exchange and will help shape future research in this area.  Our goal in planning this meeting is to
bring together researchers with active interests in the functions of the EXT proteins and to highlight and
integrate recent progress in the rapidly growing area.  This special focus distinguishes this meeting from all
other meetings in the areas of heparan sulfate, signaling and the extracellular matrix.  Holding a substantial,
focused meeting has created new HME opportunities for cross-fertilization and collaboration, help to ensure the
highest research quality, encourage future research and determine the most appropriate goals for translational
studies.  This is important for all who are active in this research area.  This meeting was also be very useful to
clinicians in enhancing communication between basic researchers and clinicians and improving patient care
and quality of live for these patients.

Relevant Previous Meeting
In October 2002, the first conference on Hereditary Multiple Exostoses organized by Dr. Jeffrey Esko and
Dr. Scott Selleck, and was held at the Arizona Cancer Center in Tucson, Arizona.  This meeting brought
together 20 basic researchers, physicians. The first MHE Conference, idea came about from Sarah Ziegler’s
conversations with many researchers concerning a desire to meet with other researchers from many different
disciplines as well as clinicians, to gather together to share ideas and information. The first conference
demonstrated to researchers, there is now a very important and growing base in many different areas of
research and this has helped bring MHE research forward.  The meeting was a tremendous success and spun
off numerous new ideas and collaborations between researchers.   
Conference participants
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Wings of HOPE as we REACH of the
Cure to Multiple Hereditary Exostoses
Top Row, Left to Right: Henry Kronenberg, M.D.,  Ben Alman, M.D.,  Matthew Hilton, Ph.D., Dan Wells, Ph.D., Wim Wuyts, Ph.D.,
Luca Sangiorgi, M.D., Ph.D., Yoshihiro Matsumoto, M.D.,  Rahul Warrior, Ph.D., Jeff Esko, Ph.D.

Middle Row, Left to Right:  T. Michael Underhill, Ph.D., Pancras Hogendoorn, M.D., Ph.D.,  David Ornitz,M.D., Ph.D., Brett Casey, M.D.,  
Andrea Vortkamp, Ph.D., Marion Kusche-Gullberg, Ph.D., Catherine Merry, Ph.D., Malgorzata Wiweger, Ph.D., Melissa Rusch, Maurizio Pacifici, Ph.D.,
 John Hassell, Ph.D.,Mohammad Shahnazari, Ph.D., Craig Eaton, Esq.,Jeremy Turnbull, Ph.D.

Bottom Row, Left to Right: Dominique Stickens, Ph.D., Sarah Ziegler, Christine Alvarez, M.D., Jacqueline Hecht, Ph.D.,George Thomson, M.D.,
Scott Selleck, M.D., Ph.D., Yu Yamaguchi, M.D., Ph.D.
Not Pictured:  John E. Herzenberg, M.D., Harish S. Hosalkar, M.D., Ashish Sinha, M.D., Ph.D., Sandra Darilek, M.S.

[Photo courtesy of University of Texas Houston Medical Center]
HME-RELATED DISEASES Chair (Benjamin Alman)
Introduction of orthopaedics and defining severity of Hereditary Multiple Exostosis.
Clinical treatments and surgical procedures.
Mutation detection strategies for molecular screening in patients.

Mutational analysis and clinical expression of disease in patients with HME.
FGF binding to percelan isolated from the growth plate.
FGF that regulate growth plate development.
Syndecans: Cell surface modulators of growth plate chondrocytes.
Delineation of regulatory networks underlying BMP action in chondrogensis.
How PTHrP regulates chondrocytes in the growth plate.
Ihh signaling in the growth plate.
Multiple Aspects of Ihh Signaling in the Endochondral Skeleton.
Analysis of human exostoses and derived cells.
Signaling defects in chondrocytes give rise to exostoses.
Mice deficient in EXT2 lack heparan sulfate and develop exostoses.
Profiling of osteochondromas and peripheral chondrosarcomas.
EXT1 and EXT2 proteins and heparan sulfate biosynthesis.
Heparan sulfate biosynthesis and sulfation.
ES Cells and the role of Heparan Sulphate in Development and Disease.
Developmental regulation of HSPG synthesis during Drosophila
Zebrafish as a model for studies on Hereditary Multiple Exostosis.
Phenotypes of conditional EXT1 knockout mice: Non-skeletal symptoms.
Structure and biosynthesis of mouse brain heparan sulfate.
Keloid Formation Following Surgical Treatment of MHE.
p53 and Rb in Cartilage Tumors in Mice.  
Tibia Dyschondroplasia; Ihh signaling.
Olliers and Mafucci.
Overview of the scientific sessions of the conference.
Genetics of MHE / MO / HME.  
Presenting study results, "Hereditary Multiple Exostoses
and Pain".
Chronic pain and the need for treatment.
Orthopaedics’ of MHE / MO / HME.
Use of Fixators, MHE / MO / HME
The 2005 MHE Research Conference
Conference Up Dates
The Third International MHE
Research Conference

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