| October 29-November 1, 2009 held in Boston at the Four Points by Sheraton Boston Logan Airport Organized by the following: Yu Yamaguchi, M.D., Ph.D., Professor, Sanford Children's Health Research Center, Burnham Institute for Medical Research, La Jolla, CA Sarah Ziegler, Vice President, National Director of Research, Executive Director, The MHE National Research Registry & Coordinator of Clinical Information MHE Research Foundation |
| Links of Scientific Interest, Affiliates and Partnering Societies |
| Multiple Hereditary Exostoses: Insights Into Pathogensis Conference held November 3–5, 2005 For complete information concerning this conference Click Here |
What is Multiple Hereditary Exostoses (MHE) / Multiple Osteochondroma (MO)? it is a debilitating disorder
characterized by benign bone tumors, skeletal malformations and an assortment of variable non-skeletal symptoms that persist
throughout life. One of the topics that will be addressed during the next conference will be the use of the terms used to
describe MHE / MO / HME.
Multiple Hereditary Exostoses / Multiple Osteochondroma can be debilitating when the exostoses compress soft tissues, such
as surrounding muscles, nerves and blood vessels. In addition, some MHE / MO / HME patients develop malignant
chondrosarcoma.
The only known treatments for MHE / MO / 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 MHE / MO / HME patients, and their success varies from patient to
patient and many struggle with pain, fatigue and mobility problems throughout their lives.
Composition of Organizing Committee
Yu Yamaguchi, M.D., Ph.D. is Professor at the Burnham Institute for Medical Research, La Jolla, CA, and is a member of the
newly founded Sanford Children's Health Research Center within the Institute. His main research area is heparan sulfate
proteoglycans in the nervous system. His laboratory created the conditional knockout mouse model for Ext1 to study the role
of heparan sulfate in various cell types and developmental contexts. This mouse model has since been shipped to more than 20
laboratories around the world, contributing to the advancement of our understanding of the role of Ext1 and heparan sulfate.
Using this model, Dr. Yamaguchi has demonstrated that disruption of Ext1 leads to a variety of developmental defects in the
nervous system. Dr. Yamaguchi's current research is aimed at defining the role of heparan sulfate in synaptic function and
behavior using the mouse model, which will shed light on enigmatic neurological and mental symptoms seen in MHE patients.
Sarah Ziegler and the MHE Research Foundation
The MHE Research Foundation is the internationally recognized organization, which provides support, clinical information,
physician directories to MHE families throughout the world. In addition to acting as a family support organization, the major
mission of the Foundation is to facilitate interactions between scientists of different research disciplines. The MHE Research
Foundation publishes a electronic newsletter and has developed numerous clinical information guides and supporting video
presentations available on this web site. The Foundation website is linked to many scientific and medical organizations and is
listed as the patient support link on the US Government Genetics Home Reference (http://ghr.nlm.nih.gov/) website. Ms.
Ziegler, is the Vice President, National Director of Research and the Executive Director of the National MHE Research Registry,
Coordinator of Clinical Information for the Foundation and has been a driving force in developing a growing network of MHE
researchers and clinicians. Under the auspices of the National MHE Research Registry, Ms. Ziegler serves as Liaison Officer for
University of Antwerp and the Rizzoli Orthopaedic Institute, Bologna, Italy, assisting EuroBoNet researchers with making the
connections necessary to obtain the Human subjects approval needed for samples of exostoses and other reagents to be sent
to EuroBoNet researchers that are currently being studied in several laboratories.
The objectives of this conference, are to again establish and bring together the research and clinical communities devoted to
the better understanding of MHE / MO / HME and those caring for Hereditary Multiple Exostoses patients. In the hope that the
research and education being done today will bring a better quality of life to all who are affected by this condition. This will be
accomplished by bringing together basic researchers from various disciplines, orthopaedic physicians, medical geneticists, MHE /
MO / HME advocacy leaders and families.
The meeting facilitates 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 MHE / MO / 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?
Timing of this conference to the scientific and medical communities
There are no other meetings that focus on the EXT genes, MHE / MO / HME and so this meeting has 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 focused meeting distinguishes this conference from all other meetings in the areas of
heparan sulfate, signaling and the extracellular matrix human genetics and Orthopaedics. Holding a substantial, focused
meeting creates new opportunities for cross-fertilization and collaboration, to ensure the highest research quality takes place,
encourages future research and determines the most appropriate goals for translational studies. This is important for all who
are active in this research area. This meeting will be very useful to clinicians in enhancing communication between basic
researchers and clinicians and improving patient care and quality of live for MHE / MO / HME patients. Our Foundation knows the
up coming conference being held in 2009 comes at a critical time in MHE / MO / HME Research.
Relevant Previous Meetings
In October 2002, the first conference on Hereditary Multiple Exostoses was organized by Dr. Jeffrey Esko and Dr. Scott
Selleck, Ms. Ziegler and was held at the Arizona Cancer Center in Tucson, Arizona. The first MHE Conference, idea came about
from Sarah Ziegler’s initiative, 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 second MHE Conference
was held in November of 2005 and was co-organized by Dr. Dan Wells, Dr. Jacqueline Hecht and Ms. Ziegler, more progress
was made including a number of new scientific collaborations.
characterized by benign bone tumors, skeletal malformations and an assortment of variable non-skeletal symptoms that persist
throughout life. One of the topics that will be addressed during the next conference will be the use of the terms used to
describe MHE / MO / HME.
Multiple Hereditary Exostoses / Multiple Osteochondroma can be debilitating when the exostoses compress soft tissues, such
as surrounding muscles, nerves and blood vessels. In addition, some MHE / MO / HME patients develop malignant
chondrosarcoma.
The only known treatments for MHE / MO / 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 MHE / MO / HME patients, and their success varies from patient to
patient and many struggle with pain, fatigue and mobility problems throughout their lives.
Composition of Organizing Committee
Yu Yamaguchi, M.D., Ph.D. is Professor at the Burnham Institute for Medical Research, La Jolla, CA, and is a member of the
newly founded Sanford Children's Health Research Center within the Institute. His main research area is heparan sulfate
proteoglycans in the nervous system. His laboratory created the conditional knockout mouse model for Ext1 to study the role
of heparan sulfate in various cell types and developmental contexts. This mouse model has since been shipped to more than 20
laboratories around the world, contributing to the advancement of our understanding of the role of Ext1 and heparan sulfate.
Using this model, Dr. Yamaguchi has demonstrated that disruption of Ext1 leads to a variety of developmental defects in the
nervous system. Dr. Yamaguchi's current research is aimed at defining the role of heparan sulfate in synaptic function and
behavior using the mouse model, which will shed light on enigmatic neurological and mental symptoms seen in MHE patients.
Sarah Ziegler and the MHE Research Foundation
The MHE Research Foundation is the internationally recognized organization, which provides support, clinical information,
physician directories to MHE families throughout the world. In addition to acting as a family support organization, the major
mission of the Foundation is to facilitate interactions between scientists of different research disciplines. The MHE Research
Foundation publishes a electronic newsletter and has developed numerous clinical information guides and supporting video
presentations available on this web site. The Foundation website is linked to many scientific and medical organizations and is
listed as the patient support link on the US Government Genetics Home Reference (http://ghr.nlm.nih.gov/) website. Ms.
Ziegler, is the Vice President, National Director of Research and the Executive Director of the National MHE Research Registry,
Coordinator of Clinical Information for the Foundation and has been a driving force in developing a growing network of MHE
researchers and clinicians. Under the auspices of the National MHE Research Registry, Ms. Ziegler serves as Liaison Officer for
University of Antwerp and the Rizzoli Orthopaedic Institute, Bologna, Italy, assisting EuroBoNet researchers with making the
connections necessary to obtain the Human subjects approval needed for samples of exostoses and other reagents to be sent
to EuroBoNet researchers that are currently being studied in several laboratories.
The objectives of this conference, are to again establish and bring together the research and clinical communities devoted to
the better understanding of MHE / MO / HME and those caring for Hereditary Multiple Exostoses patients. In the hope that the
research and education being done today will bring a better quality of life to all who are affected by this condition. This will be
accomplished by bringing together basic researchers from various disciplines, orthopaedic physicians, medical geneticists, MHE /
MO / HME advocacy leaders and families.
The meeting facilitates 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 MHE / MO / 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?
Timing of this conference to the scientific and medical communities
There are no other meetings that focus on the EXT genes, MHE / MO / HME and so this meeting has 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 focused meeting distinguishes this conference from all other meetings in the areas of
heparan sulfate, signaling and the extracellular matrix human genetics and Orthopaedics. Holding a substantial, focused
meeting creates new opportunities for cross-fertilization and collaboration, to ensure the highest research quality takes place,
encourages future research and determines the most appropriate goals for translational studies. This is important for all who
are active in this research area. This meeting will be very useful to clinicians in enhancing communication between basic
researchers and clinicians and improving patient care and quality of live for MHE / MO / HME patients. Our Foundation knows the
up coming conference being held in 2009 comes at a critical time in MHE / MO / HME Research.
Relevant Previous Meetings
In October 2002, the first conference on Hereditary Multiple Exostoses was organized by Dr. Jeffrey Esko and Dr. Scott
Selleck, Ms. Ziegler and was held at the Arizona Cancer Center in Tucson, Arizona. The first MHE Conference, idea came about
from Sarah Ziegler’s initiative, 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 second MHE Conference
was held in November of 2005 and was co-organized by Dr. Dan Wells, Dr. Jacqueline Hecht and Ms. Ziegler, more progress
was made including a number of new scientific collaborations.
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Session 1: Overview/and Clinical presentation of MHE
Dan Wells, Ph.D.
President UH Faculty Senate, Professor of Biology and Biochemistry, University of Houston, TX
Perspectives on the Genetics of Multiple Hereditary Exostosis
Dror Paley, M.D.(Session Chair)
Director of the Paley Advanced Limb Lengthening Institute, St Mary's Hospital, West Palm Beach, FL, Former President of LLRS
MHE of the Lower Extremity
Scott H. Kozin, M.D.
Associate Professor, Orthopaedic Surgery, Temple University, Hand & Upper Extremity Surgeon, Shriners Hospital for Children, Philadelphia, PA
Former President of the American Association for Hand Surgery 2008
MHE of the Upper Extremity
Session 2: Human genetics
Wim Wuyts, Ph.D.(Session Co-Chair)
Head DNA Diagnostics, Department of Medical Genetics University & University Hospital of Antwerp, Belgium
Genetics of Multiple Osteochondromas; Overview of the Current Status
Ivy Jennes, MS
Department of Medical Genetics
University and University Hospital of Antwerp, Belgium
Characterisation of the Promoter Region of the Human Exostosin-1 Gene
Luca Sangiorgi, M.D., Ph.D. (Session Co-Chair)
Head of the Genetics Unit, Lab Oncology Research Coordinator, Rare Skeletal Diseases, Rizzoli Orthopaedic Institute, Bologna, Italy, President
Elect of CTOS
Genotype-Phenotype Correlation Study in 529 MO Patients: 'Protective' and 'Risk' Factors
Elena Pedrini, Ph.D.
Medical Genetic Department, Rizzoli Orthopaedic Institute, Bologna, Italy
Osteochondroma Onset and Malignant Degeneration: Redefinition of EXT Gene Role
Session 3: Biochemistry, chemistry and cell biology of heparan sulfate
Marion Kusche-Gullberg, Ph.D.
Professor, Department of Biomedicine
University of Bergen Norway
EXT-Dependent Regulation of Heparan Sulfate Structure and Function
Robert Linhardt, Ph.D.
Acting Director, Center for Biotechnology and Interdisciplinary Studies, Ann and John Broadbent Jr. ’59 Senior Constellation Professor
Biocatalysis and Metabolic Engineering Professor of Chemistry and Chemical Biology, Biology, and Chemical and Biochemical Engineering,
Rensselaer Polytechnic Institute School of Engineering, NY
New advances in heparan sulfate/heparin analysis and biosynthesis
Jeremy Turnbull, Ph.D.
Professor and Chair of Biochemistry Director Centre for Glycobiology, University of Liverpool, School of Biological Sciences, UK
Elucidating the Functions of Heparan Sulfates: Towards Glycomics Strategies
Catherine Merry, Ph.D.
Lecturer in Biomedical Materials, The University of Manchester, UK
Restoring Function to Heparan-Sulphate Deficient Cells
Session 4: Studies using non-mammalian model animals
Henry H. Roehl, Ph.D.(Session Chair)
Professor Dept of Biomedical Science, MRC Centre for Developmental and Biomedical Genetics, The University of Sheffield, UK
Zebrafish as a model for Multiple Hereditary Exostoses
Rahul Warrior, Ph.D.
Associate Professor, University of California – Irvine, School of Biological Sciences, Department of Developmental and Cell Biology, CA
Developmental Regulation of Heparan Sulfate Proteoglycan Synthesis
Joseph H. Yost, Ph.D.
Professor of Neurobiology & Anatomy, University of Utah School of Medicine, Eccles Institute of Human Genetics
HS Fine Structure and FGF Signaling Pathways Converge at Cilia: Does Cilia Function Have a Role in HME?
Malgorzata Wiweger, Ph.D.
Leiden University, Netherlands
New Aspects of Multiple Osteochondromas – A Lesson from dackel (dak/ext2)
Session 5: Developmental biology of bone and cartilage
Henry M. Kronenberg, M.D, Ph.D.(Session Chair)
Chief, Endocrine Unit, Massachusetts General Hospital, Professor of Medicine Harvard Medical School Boston, MA Former President of ASBMR &
currently the Vice President of International Bone and Mineral Society (IBMS)
PTH/PTHrP Receptor Signaling is Required for Maintenance of the Growth Plate in Postnatal Life
Patrick Allard, Ph.D.
Dr Clifford Tabin Laboratory Harvard Medical School Boston
Understanding the role of Ihh and proteoglycans interaction during bone development
David Ornitz, M.D., Ph.D.
Alumni Endowed Professor and Head Developmental Biology Developmental Biology Program Neurosciences Program Molecular Cell Biology
Program Biomed RAP Program, Washington University School of Medicine, St Louis, Missouri
FGF Signaling in Skeletal Development and Repair
T. Michael Underhill, Ph.D.
Associate Professor & Arthritis Society Investigator, Dept. of Cellular & Physiol, Sciences, University of British Columbia, Canada
Regulation of Osteogenesis by the Retinoic Acid Signaling Pathway
Olena Jacenko, Ph.D.
Associate Professor of Animal Biology, University of Pennsylvania, PA
Altered Matrix at the Chondro-Osseous Junction Leads to Defects in the Hematopoietic Stem Ce, ll Niche
Kyle C. Kurek, M.D.
Dept of Pathology, Children’s Hospital Boston and Harvard Medical School, Boston, MA
Metachondromatosis: Expanding the Clinicopathologic Spectrum
Session 6: Role of heparan sulfate in bone development/Novel MHE mouse models
Maurizio Pacifici, Ph.D. (Session Chair)
Director of Orthopaedic Research, Anthony F. and Gertrude M. De Palma Professor of Orthopaedic Research, Thomas Jefferson University
College of Medicine, Philadelphia, PA
Mechanisms of Exostosis Formation in Mouse Models of HME
Kevin B. Jones, M.D.
Sarcoma Services, Huntsman Cancer Institute, Primary Children's Medical Center, Dept of Orthopaedics University of Utah Salt Lake City, Utah
Osteochondromagenesis: Somatic Loss of Heterozygosity Modeled via Cre-Mediated Inversion of the Second Exon
of Ext1 in Chondrocytes
Andrea Vortkamp, Ph.D.
Abteilung fuer EntwicklungsbiologieI ZMB, Fachbereich Biologie und Geographie University Duisburg, Germany
Molecular Characterization of Osteochondroma Development in Mice
Kazu Matsumoto, M.D., Ph.D.
Burnham Institute for Medical Research, La Jolla, CA
Stochastic Conditional Knockout of Ext1 Reveals an Unexpected Relationship between Biallelic Inactivation of the
Gene and the Development of Multiple Exostoses
Session 7: Role of heparan sulfate in non-skeletal tissues
Jeffrey D. Esko, Ph.D.(Session Chair)
Professor, Dept. of Cellular Molecular Medicine, Co-Director, Glycobiology Research & Training Center, UCSD, San Diego CA, Former President of
the Society for Glycobiology
Do Mutations in EXT1 or EXT2 Affect Non-Skeletal Tissues?
Hudson Freeze, Ph.D.
Professor, Sanford Children's Health Research Center, Burnham Institute for Medical Research, La Jolla, CA
Deficient Heparan Sulfate and N-Glycosylation Contribute to Protein-Losing Enteropathy in Humans and Mice
Yu Yamaguchi, M.D., Ph.D. (Co-organizer)
Professor Sanford Children's Health Research Center, Burnham Institute for Medical Research, La Jolla, CA
Deficiency of Heparan Sulfate in Excitatory Neurons Causes Autism-like Behaviors in Mice
Session 8: Biology of MHE and Related bone diseases
Benjamin Alman, M.D.(Session Chair)
Canada Research Chair
A.J. Latner Professor and Chair of Orthopaedic Surgery, Vice Chair Research, Department of Surgery, University of Toronto, Head, Division of
Orthopaedic Surgery Senior Scientist, Program in Developmental and Stem Cell Biology, Hospital for Sick Children Canada
Gli2 and p53 cooperate to regulate IGFBP-3 mediated chondrocyte apoptosis in the progression from benign to
malignant cartilage tumors
Pancras CW Hogendoorn, M.D., Ph.D.
Professor of Pathology, Dept. of Pathology, Leiden University Medical Center, Molecular tumor pathology and tumor genetics, Netherlands
Chairman EuroBoNet Consortium
Primary Cilia Organization Orchestrating Cell Polarity in the Growth Plate and its Loss in Osteochondroma
Frederick Kaplan, M.D.
Isaac & Rose Nassau Professor of Orthopaedic Molecular Medicine, University of Pennsylvania, PA
Osteochondromas & the FOP Metamorphogene
Judith Bovee, M.D., Ph.D.
Pathologist / associate professor
Department of Pathology, Leiden University Medical Center Netherlands
On the Clinical Manifestation and the Genetics of Ollier Disease
Advocacy & how this translates into Research and Education
Craig A Eaton, President of the MHE Research Foundation
Sarah Ziegler (Co-organizer)
MHE Research Foundation, NY
Conference ~e~posters
Carla G. Asteggiano Ph.D
Centro de Estudio Metabolopatías Congénitas (CEMECO-CONICET)
Facultad de Ciencias Médicas, Universidad Nacional de Córdoba
Hospital, Córdoba, Argentina
Multiple Hereditary Exostoses due to O-glycosylation defects: First clinical and molecular studies in Argentinean
patients.
Dan Wells, Ph.D.
President UH Faculty Senate, Professor of Biology and Biochemistry, University of Houston, TX
Perspectives on the Genetics of Multiple Hereditary Exostosis
Dror Paley, M.D.(Session Chair)
Director of the Paley Advanced Limb Lengthening Institute, St Mary's Hospital, West Palm Beach, FL, Former President of LLRS
MHE of the Lower Extremity
Scott H. Kozin, M.D.
Associate Professor, Orthopaedic Surgery, Temple University, Hand & Upper Extremity Surgeon, Shriners Hospital for Children, Philadelphia, PA
Former President of the American Association for Hand Surgery 2008
MHE of the Upper Extremity
Session 2: Human genetics
Wim Wuyts, Ph.D.(Session Co-Chair)
Head DNA Diagnostics, Department of Medical Genetics University & University Hospital of Antwerp, Belgium
Genetics of Multiple Osteochondromas; Overview of the Current Status
Ivy Jennes, MS
Department of Medical Genetics
University and University Hospital of Antwerp, Belgium
Characterisation of the Promoter Region of the Human Exostosin-1 Gene
Luca Sangiorgi, M.D., Ph.D. (Session Co-Chair)
Head of the Genetics Unit, Lab Oncology Research Coordinator, Rare Skeletal Diseases, Rizzoli Orthopaedic Institute, Bologna, Italy, President
Elect of CTOS
Genotype-Phenotype Correlation Study in 529 MO Patients: 'Protective' and 'Risk' Factors
Elena Pedrini, Ph.D.
Medical Genetic Department, Rizzoli Orthopaedic Institute, Bologna, Italy
Osteochondroma Onset and Malignant Degeneration: Redefinition of EXT Gene Role
Session 3: Biochemistry, chemistry and cell biology of heparan sulfate
Marion Kusche-Gullberg, Ph.D.
Professor, Department of Biomedicine
University of Bergen Norway
EXT-Dependent Regulation of Heparan Sulfate Structure and Function
Robert Linhardt, Ph.D.
Acting Director, Center for Biotechnology and Interdisciplinary Studies, Ann and John Broadbent Jr. ’59 Senior Constellation Professor
Biocatalysis and Metabolic Engineering Professor of Chemistry and Chemical Biology, Biology, and Chemical and Biochemical Engineering,
Rensselaer Polytechnic Institute School of Engineering, NY
New advances in heparan sulfate/heparin analysis and biosynthesis
Jeremy Turnbull, Ph.D.
Professor and Chair of Biochemistry Director Centre for Glycobiology, University of Liverpool, School of Biological Sciences, UK
Elucidating the Functions of Heparan Sulfates: Towards Glycomics Strategies
Catherine Merry, Ph.D.
Lecturer in Biomedical Materials, The University of Manchester, UK
Restoring Function to Heparan-Sulphate Deficient Cells
Session 4: Studies using non-mammalian model animals
Henry H. Roehl, Ph.D.(Session Chair)
Professor Dept of Biomedical Science, MRC Centre for Developmental and Biomedical Genetics, The University of Sheffield, UK
Zebrafish as a model for Multiple Hereditary Exostoses
Rahul Warrior, Ph.D.
Associate Professor, University of California – Irvine, School of Biological Sciences, Department of Developmental and Cell Biology, CA
Developmental Regulation of Heparan Sulfate Proteoglycan Synthesis
Joseph H. Yost, Ph.D.
Professor of Neurobiology & Anatomy, University of Utah School of Medicine, Eccles Institute of Human Genetics
HS Fine Structure and FGF Signaling Pathways Converge at Cilia: Does Cilia Function Have a Role in HME?
Malgorzata Wiweger, Ph.D.
Leiden University, Netherlands
New Aspects of Multiple Osteochondromas – A Lesson from dackel (dak/ext2)
Session 5: Developmental biology of bone and cartilage
Henry M. Kronenberg, M.D, Ph.D.(Session Chair)
Chief, Endocrine Unit, Massachusetts General Hospital, Professor of Medicine Harvard Medical School Boston, MA Former President of ASBMR &
currently the Vice President of International Bone and Mineral Society (IBMS)
PTH/PTHrP Receptor Signaling is Required for Maintenance of the Growth Plate in Postnatal Life
Patrick Allard, Ph.D.
Dr Clifford Tabin Laboratory Harvard Medical School Boston
Understanding the role of Ihh and proteoglycans interaction during bone development
David Ornitz, M.D., Ph.D.
Alumni Endowed Professor and Head Developmental Biology Developmental Biology Program Neurosciences Program Molecular Cell Biology
Program Biomed RAP Program, Washington University School of Medicine, St Louis, Missouri
FGF Signaling in Skeletal Development and Repair
T. Michael Underhill, Ph.D.
Associate Professor & Arthritis Society Investigator, Dept. of Cellular & Physiol, Sciences, University of British Columbia, Canada
Regulation of Osteogenesis by the Retinoic Acid Signaling Pathway
Olena Jacenko, Ph.D.
Associate Professor of Animal Biology, University of Pennsylvania, PA
Altered Matrix at the Chondro-Osseous Junction Leads to Defects in the Hematopoietic Stem Ce, ll Niche
Kyle C. Kurek, M.D.
Dept of Pathology, Children’s Hospital Boston and Harvard Medical School, Boston, MA
Metachondromatosis: Expanding the Clinicopathologic Spectrum
Session 6: Role of heparan sulfate in bone development/Novel MHE mouse models
Maurizio Pacifici, Ph.D. (Session Chair)
Director of Orthopaedic Research, Anthony F. and Gertrude M. De Palma Professor of Orthopaedic Research, Thomas Jefferson University
College of Medicine, Philadelphia, PA
Mechanisms of Exostosis Formation in Mouse Models of HME
Kevin B. Jones, M.D.
Sarcoma Services, Huntsman Cancer Institute, Primary Children's Medical Center, Dept of Orthopaedics University of Utah Salt Lake City, Utah
Osteochondromagenesis: Somatic Loss of Heterozygosity Modeled via Cre-Mediated Inversion of the Second Exon
of Ext1 in Chondrocytes
Andrea Vortkamp, Ph.D.
Abteilung fuer EntwicklungsbiologieI ZMB, Fachbereich Biologie und Geographie University Duisburg, Germany
Molecular Characterization of Osteochondroma Development in Mice
Kazu Matsumoto, M.D., Ph.D.
Burnham Institute for Medical Research, La Jolla, CA
Stochastic Conditional Knockout of Ext1 Reveals an Unexpected Relationship between Biallelic Inactivation of the
Gene and the Development of Multiple Exostoses
Session 7: Role of heparan sulfate in non-skeletal tissues
Jeffrey D. Esko, Ph.D.(Session Chair)
Professor, Dept. of Cellular Molecular Medicine, Co-Director, Glycobiology Research & Training Center, UCSD, San Diego CA, Former President of
the Society for Glycobiology
Do Mutations in EXT1 or EXT2 Affect Non-Skeletal Tissues?
Hudson Freeze, Ph.D.
Professor, Sanford Children's Health Research Center, Burnham Institute for Medical Research, La Jolla, CA
Deficient Heparan Sulfate and N-Glycosylation Contribute to Protein-Losing Enteropathy in Humans and Mice
Yu Yamaguchi, M.D., Ph.D. (Co-organizer)
Professor Sanford Children's Health Research Center, Burnham Institute for Medical Research, La Jolla, CA
Deficiency of Heparan Sulfate in Excitatory Neurons Causes Autism-like Behaviors in Mice
Session 8: Biology of MHE and Related bone diseases
Benjamin Alman, M.D.(Session Chair)
Canada Research Chair
A.J. Latner Professor and Chair of Orthopaedic Surgery, Vice Chair Research, Department of Surgery, University of Toronto, Head, Division of
Orthopaedic Surgery Senior Scientist, Program in Developmental and Stem Cell Biology, Hospital for Sick Children Canada
Gli2 and p53 cooperate to regulate IGFBP-3 mediated chondrocyte apoptosis in the progression from benign to
malignant cartilage tumors
Pancras CW Hogendoorn, M.D., Ph.D.
Professor of Pathology, Dept. of Pathology, Leiden University Medical Center, Molecular tumor pathology and tumor genetics, Netherlands
Chairman EuroBoNet Consortium
Primary Cilia Organization Orchestrating Cell Polarity in the Growth Plate and its Loss in Osteochondroma
Frederick Kaplan, M.D.
Isaac & Rose Nassau Professor of Orthopaedic Molecular Medicine, University of Pennsylvania, PA
Osteochondromas & the FOP Metamorphogene
Judith Bovee, M.D., Ph.D.
Pathologist / associate professor
Department of Pathology, Leiden University Medical Center Netherlands
On the Clinical Manifestation and the Genetics of Ollier Disease
Advocacy & how this translates into Research and Education
Craig A Eaton, President of the MHE Research Foundation
Sarah Ziegler (Co-organizer)
MHE Research Foundation, NY
Conference ~e~posters
Carla G. Asteggiano Ph.D
Centro de Estudio Metabolopatías Congénitas (CEMECO-CONICET)
Facultad de Ciencias Médicas, Universidad Nacional de Córdoba
Hospital, Córdoba, Argentina
Multiple Hereditary Exostoses due to O-glycosylation defects: First clinical and molecular studies in Argentinean
patients.
| Fourth International MHE Research Conference was held Friday, Nov. 1 - Sunday, Nov. 4, 2012 Organizers Maurizio Pacifici, Ph.D. Director of Orthopaedic of the Translational Research Program in Pediatric Orthopaedics at The Children's Hospital of Philadelphia, Professor of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Penn Center for Musculoskeletal Disorders Sarah Ziegler |
| 2009 Third International MHE Research Conference |
Conference Advisory Committee
Benjamin Alman * John Dormans * Jeffrey Esko * Scott Kozin * Henry Kronenberg * Maurizio Pafifici * Dror Paley * Luca
Sangiorgi * Dan Wells * Wim Wuyts
Speakers list
Benjamin Alman * John Dormans * Jeffrey Esko * Scott Kozin * Henry Kronenberg * Maurizio Pafifici * Dror Paley * Luca
Sangiorgi * Dan Wells * Wim Wuyts
Speakers list
| MHE Research Foundation's "Learned Society" Researcher/Physician Registration Intake Form, Abstract submission will begin June 15, 2012 Please Click Here |
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Click here to verify.# HON Conduct 282463 and is the patient support link on the US Government Genetics Home Reference (http://ghr.nlm.nih.gov)
website, also linked for Patient Information on The Diseases Database a cross-referenced index of human disease, as well as the
Intute: health & life sciences a free online service providing access to the very best Web resources for education and research located in the UK
The MHE Research Foundation is proud to be working with the EuroBoNeT consortium, a European Commission granted Network of Excellence for
studying the pathology and genetics of bone tumors.
studying the pathology and genetics of bone tumors.
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The MHE Research Foundation is proud to be an affiliate of the Society For Glycobiology
