Multiple Hereditary Exostoses: Insights Into Pathogensis
Was held November 3–5, 2005
Conference Program
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)
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.”
Conference participants 2005
Everything you need to know about Multiple Hereditary Exostoses workshop.

Speakers included    
[Photo courtesy of University of Texas Houston Medical Center taken during the 2005 conference]
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.
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.
Presenting study results, "Hereditary Multiple Exostoses
and Pain".
Use of Fixators, MHE / MO / HME
2005 MHE Research Conference
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