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| Announcement Page |
| MHERF The up to the minute news ! Information you need to know ! |
| Latest Research Project is Now Open. This is the worlds largest human research study ever conducted on MHE / MO / HME. |
| Other MHERF Non Research Related Announcements |
Article 12 / 1 / 06 Medieval Ballyhanna
Medieval skeletal remains of an 800 year-old Ballyshann man with MHE. Click Here
Medieval skeletal remains of an 800 year-old Ballyshann man with MHE. Click Here
| Conference Announcements |
| Research Project Announcement |
This website is regularly reviewed by members of the Scientific and Medical Advisory Board of the MHE Research Foundation.
Disclaimer: While many find the information useful, it is in no way a substitute for professional medical care.
The information provided here is for educational and informational purposes only. This website does not engage in the practice
of medicine. In all cases we recommend that you consult your own physician regarding any course of treatment or medicine.
The information provided here is for educational and informational purposes only. This website does not engage in the practice
of medicine. In all cases we recommend that you consult your own physician regarding any course of treatment or medicine.
Written consent must be obtained to attach web pages or the files attached to this website. Please email webmaster.
This web page was updated last on 5/13 /08, 4:00 pm Eastern time
| Email the webmaster: webmaster@mheresearchfoundation.org Materials on this website are protected by copyright Copyright © 2008 The MHE Research Foundation |
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.
granted Network of Excellence for studying the pathology and genetics of bone tumors.
Conference Up dates
Sarah Ziegler has returned from giving a presentation on behalf of the foundation at the Connective
Tissue Oncology Society Meeting held in Venice Italy on November 2-4, 2006.
Please click the link to read about the CTOS Conference, up date on MHE Research presented and
Power Point persentation given by Sarah. There is also an article authored by Sarah about all of her
experiences and pictures taken while in Venice Italy during this conference. There is also a take home
message from the doctors attending concerning follow up patient care written in her article.
This web-page may take a minute or so to down load there is a lot of information that needs to be
downloaded. To read the CTOS Conference Update and over view Click Here
The Third International MHE 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, National Director of Research, MHE Research Foundation.
The conference will be held in Orlando Florida on Wednesday July 8, 2009 through Saturday July 11,
2009
Sarah Ziegler has returned from giving a presentation on behalf of the foundation at the Connective
Tissue Oncology Society Meeting held in Venice Italy on November 2-4, 2006.
Please click the link to read about the CTOS Conference, up date on MHE Research presented and
Power Point persentation given by Sarah. There is also an article authored by Sarah about all of her
experiences and pictures taken while in Venice Italy during this conference. There is also a take home
message from the doctors attending concerning follow up patient care written in her article.
This web-page may take a minute or so to down load there is a lot of information that needs to be
downloaded. To read the CTOS Conference Update and over view Click Here
The Third International MHE 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, National Director of Research, MHE Research Foundation.
The conference will be held in Orlando Florida on Wednesday July 8, 2009 through Saturday July 11,
2009
| 08 / 02 / 07 The MHE Research Foundation's X-ray & Image Gallery has been added to our website. Click Here |
| Press Release Announcements Over 3 Months Old |
Press Release 05 / 21 / 07
The MHE Research Foundation is honored that Miss Markham, Ontario Bianca Mondino has
chosen to become an ambassador for our foundation. Bianca’s ability to bring awareness
concerning this rare medical condition is truly a gift to all who suffer from MHE / MO / HME. She is a
national delegate representing the city of Markham, Ontario in the upcoming Miss Canada
International Scholarship Pageant. Where young ladies are not solely judged on beauty and body
image, importance is also placed on personality, intellect, public speaking, and community
involvement. Bianca Mondino’s choice of the MHE Research Foundation is very close to her heart as
she underwent surgery when she was younger to remove Osteochondromas due to the fatigue and
pain this condition caused her. Her commitment and understanding towards research being
conducted today brings hope that one day a treatment will be found and others will no longer need
to suffer from this very painful condition. She is truly an inspiration to us all and for more
information about Bianca and her goals please Click Here
The MHE Research Foundation is honored that Miss Markham, Ontario Bianca Mondino has
chosen to become an ambassador for our foundation. Bianca’s ability to bring awareness
concerning this rare medical condition is truly a gift to all who suffer from MHE / MO / HME. She is a
national delegate representing the city of Markham, Ontario in the upcoming Miss Canada
International Scholarship Pageant. Where young ladies are not solely judged on beauty and body
image, importance is also placed on personality, intellect, public speaking, and community
involvement. Bianca Mondino’s choice of the MHE Research Foundation is very close to her heart as
she underwent surgery when she was younger to remove Osteochondromas due to the fatigue and
pain this condition caused her. Her commitment and understanding towards research being
conducted today brings hope that one day a treatment will be found and others will no longer need
to suffer from this very painful condition. She is truly an inspiration to us all and for more
information about Bianca and her goals please Click Here
Press Release 03 / 06 / 07
JNCI Journal of the National Cancer Institute 2007 99(5):396-406; doi:10.1093
/jnci/djk067
To read journal abstract or full publication Click Here
EXT1 Gene Influences Formation of Nonhereditary Benign Bone Tumors
Mutations in a gene known as EXT1 cause Multiple Osteochondromas, a rare hereditary disorder that
results in the formation of benign cartilage-covered bone tumors. Now scientists have shown that
EXT1 is also involved in the development of nonhereditary osteochondromas, the more common
form of the disease.
Liesbeth Hameetman of Leiden University Medical Center in The Netherlands, and colleagues
examined eight nonhereditary osteochondromas to determine whether EXT1 acts as a tumor-
suppressing gene in nonhereditary osteochondromas in the same way it does in hereditary ones.
Mutations or deletions of tumor suppressor genes increased the likelihood of a cell becoming a tumor
cell, but both copies of the gene had to be affected for this to happen.
In seven of the eight osteochondromas, both copies of EXT1 were deleted; these deletions occurred
only in the cartilage cap of the one osteochondroma that was examined in detail. Previous studies
demonstrated that the cartilage cap was formed of tumor tissue, but it was unknown whether other
parts of the osteochondromas—the bony stalk and the connective tissue—were as well. The authors
conclude that EXT1 acts as a tumor suppressor gene in the cartilage of nonhereditary
osteochondromas.
“Our finding that the cartilage cap is the only [tumor] component of osteochondroma revives long-
standing debate about the cell origin of osteochondromas,” the authors write.
The MHE Research Foundation would like to thank Dr. Hogendoorn and his colleagues for all their
long standing research efforts. These research findings have paramount importance to the field of
MHE / MO / HME research. MHERF would also like to thank Dr. Hogendoorn for always staying in such
close contact with our organization and for all his support. Also for being given this opportunity to
be the first organization besides the JNCI Journal of the National Cancer Institute to help announce
these research findings.
JNCI Journal of the National Cancer Institute 2007 99(5):396-406; doi:10.1093
/jnci/djk067
To read journal abstract or full publication Click Here
EXT1 Gene Influences Formation of Nonhereditary Benign Bone Tumors
Mutations in a gene known as EXT1 cause Multiple Osteochondromas, a rare hereditary disorder that
results in the formation of benign cartilage-covered bone tumors. Now scientists have shown that
EXT1 is also involved in the development of nonhereditary osteochondromas, the more common
form of the disease.
Liesbeth Hameetman of Leiden University Medical Center in The Netherlands, and colleagues
examined eight nonhereditary osteochondromas to determine whether EXT1 acts as a tumor-
suppressing gene in nonhereditary osteochondromas in the same way it does in hereditary ones.
Mutations or deletions of tumor suppressor genes increased the likelihood of a cell becoming a tumor
cell, but both copies of the gene had to be affected for this to happen.
In seven of the eight osteochondromas, both copies of EXT1 were deleted; these deletions occurred
only in the cartilage cap of the one osteochondroma that was examined in detail. Previous studies
demonstrated that the cartilage cap was formed of tumor tissue, but it was unknown whether other
parts of the osteochondromas—the bony stalk and the connective tissue—were as well. The authors
conclude that EXT1 acts as a tumor suppressor gene in the cartilage of nonhereditary
osteochondromas.
“Our finding that the cartilage cap is the only [tumor] component of osteochondroma revives long-
standing debate about the cell origin of osteochondromas,” the authors write.
The MHE Research Foundation would like to thank Dr. Hogendoorn and his colleagues for all their
long standing research efforts. These research findings have paramount importance to the field of
MHE / MO / HME research. MHERF would also like to thank Dr. Hogendoorn for always staying in such
close contact with our organization and for all his support. Also for being given this opportunity to
be the first organization besides the JNCI Journal of the National Cancer Institute to help announce
these research findings.
Press Release 04 / 09 / 07
Abnormal Scarring With Keloid Formation After Osteochondroma Excision in Children With
Multiple Hereditary Exostoses.
Journal of Pediatric Orthopaedics. 27(3):333-337, April/May 2007.
To read journal abstract or full publication Click Here
Harish Hosalkar, MD, MBMS (Ortho), FCPS (Ortho), DNB (Ortho); Jared Greenberg, MD; Rebecca L.
Gaugler, BS; Sumeet Garg, MD; John P. Dormans, MD
Discussion: Abnormal scarring with keloid formation after osteochondroma excision in MHE has not
been previously reported. Although this study has limited numbers, the results demonstrate a
statistically significant correlation between keloid formation and MHE. The risk for abnormal scarring
and keloid formation should be discussed with all patients before surgery.
The MHE Research Foundation greatly appreciates Dr. Dormans, who serves on the Scientific and
Medical Advisory Board of MHERF and all colleagues who conducted this research, as many people
living with MHE / MO / HME have been experiencing this problem of keloid formation after
osteochondroma excision. Our hope that this research will help educate both the medical and
MHE / MO / HME communities, all should be award that this issue of abnormal scarring is taking
place.
Abnormal Scarring With Keloid Formation After Osteochondroma Excision in Children With
Multiple Hereditary Exostoses.
Journal of Pediatric Orthopaedics. 27(3):333-337, April/May 2007.
To read journal abstract or full publication Click Here
Harish Hosalkar, MD, MBMS (Ortho), FCPS (Ortho), DNB (Ortho); Jared Greenberg, MD; Rebecca L.
Gaugler, BS; Sumeet Garg, MD; John P. Dormans, MD
Discussion: Abnormal scarring with keloid formation after osteochondroma excision in MHE has not
been previously reported. Although this study has limited numbers, the results demonstrate a
statistically significant correlation between keloid formation and MHE. The risk for abnormal scarring
and keloid formation should be discussed with all patients before surgery.
The MHE Research Foundation greatly appreciates Dr. Dormans, who serves on the Scientific and
Medical Advisory Board of MHERF and all colleagues who conducted this research, as many people
living with MHE / MO / HME have been experiencing this problem of keloid formation after
osteochondroma excision. Our hope that this research will help educate both the medical and
MHE / MO / HME communities, all should be award that this issue of abnormal scarring is taking
place.
Press Release 04 / 14 / 07
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of
Italian multiple osteochondromas patients.
Journal of Genes, Chromosomes and Cancer. DOI: 10.1002/gcc.20431
To read full publication Click Here
Emanuela Signori 1 *, Emanuela Massi 1, Maria Giovanna Matera 2, Monica Poscente 3, Carolina
Gravina 2, Gianluca Falcone 4, Michele Attilio Rosa 5, Monica Rinaldi 6, Wim Wuyts 7, Davide Seripa
2, Bruno Dallapiccola 8, Vito Michele Fazio 1 2, Clinical reference groups§
Dr. Fazio and his colleagues took a cohort of 100 MO patients belonging to unrelated Italian
families, they were analyzed by single-strand conformation polymorphism (SSCP) analysis or by
denaturing high performance liquid chromatography (DHPLC). However, neither of these techniques
can detect deletions or duplications of entire exons. Families that were negative at SSCP/DHPLC
analysis underwent two-color multiple ligation-dependent probe amplification (MLPA) analysis. By
these complementary techniques mutation detection was significantly improved and 26 novel
mutations have been revealed as well as 18 previously described mutations to give a total of 44
different mutations. Thus Dr. Fazio concludes that combining MLPA with DHPLC in point-mutations
negative MO families, the detection of mutations in EXT genes can significantly improve the
identification of both point-mutations and mid-size rearrangements. More important, we were able to
characterize all those patients who were negative at the first PCR-based method screening.
The MHE Research Foundation would like to thank Dr. Fazio for thoughtfully acknowledging families,
parents, and children, MHERF and our foundation's National Director of Research Sarah Zielger as
well as A.C.A.R. in this publication. The MHE Research Foundation sees first hand, Sarah's tireless
efforts, on behalf of all affected by MHE / MO / HME. MHERF firmly believes all of our combined efforts
are now and will in the future continue to off. Thanks Again on behalf of MHERF and all people
affected by MHE / MO / HME for all your dedication.
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of
Italian multiple osteochondromas patients.
Journal of Genes, Chromosomes and Cancer. DOI: 10.1002/gcc.20431
To read full publication Click Here
Emanuela Signori 1 *, Emanuela Massi 1, Maria Giovanna Matera 2, Monica Poscente 3, Carolina
Gravina 2, Gianluca Falcone 4, Michele Attilio Rosa 5, Monica Rinaldi 6, Wim Wuyts 7, Davide Seripa
2, Bruno Dallapiccola 8, Vito Michele Fazio 1 2, Clinical reference groups§
Dr. Fazio and his colleagues took a cohort of 100 MO patients belonging to unrelated Italian
families, they were analyzed by single-strand conformation polymorphism (SSCP) analysis or by
denaturing high performance liquid chromatography (DHPLC). However, neither of these techniques
can detect deletions or duplications of entire exons. Families that were negative at SSCP/DHPLC
analysis underwent two-color multiple ligation-dependent probe amplification (MLPA) analysis. By
these complementary techniques mutation detection was significantly improved and 26 novel
mutations have been revealed as well as 18 previously described mutations to give a total of 44
different mutations. Thus Dr. Fazio concludes that combining MLPA with DHPLC in point-mutations
negative MO families, the detection of mutations in EXT genes can significantly improve the
identification of both point-mutations and mid-size rearrangements. More important, we were able to
characterize all those patients who were negative at the first PCR-based method screening.
The MHE Research Foundation would like to thank Dr. Fazio for thoughtfully acknowledging families,
parents, and children, MHERF and our foundation's National Director of Research Sarah Zielger as
well as A.C.A.R. in this publication. The MHE Research Foundation sees first hand, Sarah's tireless
efforts, on behalf of all affected by MHE / MO / HME. MHERF firmly believes all of our combined efforts
are now and will in the future continue to off. Thanks Again on behalf of MHERF and all people
affected by MHE / MO / HME for all your dedication.
All BLUE Links & website tabs are active and checked weekly, if you happen to click a link that is not
working please notify using this comment form link or email the master at
webmaster@mheresearchfoundation.org Thank you
working please notify using this comment form link or email the master at
webmaster@mheresearchfoundation.org Thank you
HIGH IMPORTANCE
Please register with the MHE Research Foundation. Click Here
This online registration form has been encrypted with the following, SSL 3.0.RC4 with 128 bit
encryption (High); RSA with 1024 bit exchange (Internet Security). Once you have registered, you
can come back anytime to modify your profile. When you register you will choose a password to log
in.
If you have registered your contact information with us before Dec 5 2007, we are asking that you
register again in this new database. Our foundation is always working on ways to serve the MHE
community better and appreciate your cooperation as we implement this new registration process.
Please be aware that if you would like to participate in any research project that our foundation is an
active part in you will still need to fill out the online registry form (Click Here), as this is required by
Human Subjects Regulations for Research. The research participation process has not changed, if
you have registered in this registry you DO NOT have to register again.
Please register with the MHE Research Foundation. Click Here
This online registration form has been encrypted with the following, SSL 3.0.RC4 with 128 bit
encryption (High); RSA with 1024 bit exchange (Internet Security). Once you have registered, you
can come back anytime to modify your profile. When you register you will choose a password to log
in.
If you have registered your contact information with us before Dec 5 2007, we are asking that you
register again in this new database. Our foundation is always working on ways to serve the MHE
community better and appreciate your cooperation as we implement this new registration process.
Please be aware that if you would like to participate in any research project that our foundation is an
active part in you will still need to fill out the online registry form (Click Here), as this is required by
Human Subjects Regulations for Research. The research participation process has not changed, if
you have registered in this registry you DO NOT have to register again.
Press Release 1 / 10 / 08
Our foundation is pleased to announce MHE / MO / HME is now included in the NLM website Genetics
Home Reference, Your Guild to understanding Genetic Conditions. The Genetics Home Reference
provides access to information from the National Library of Medicine (NLM), the National Institutes of
Health, and other U.S. Government agencies. Our foundation hopes now government agencies, like
the Social Security Administration and others will have an easier time looking up the MHE disease
information needed when people with MHE need to apply for benefits.
Our foundation requested that a section on MHE be added to this website and that all websites
providing patient information be reviewed during this process, Our foundation is the only MHE pacific
patient support organization listed, as we meet all of the criteria as required. There are only about
250 genetic conditions that have sections located on this website. To view this website Click Here
Our foundation is pleased to announce MHE / MO / HME is now included in the NLM website Genetics
Home Reference, Your Guild to understanding Genetic Conditions. The Genetics Home Reference
provides access to information from the National Library of Medicine (NLM), the National Institutes of
Health, and other U.S. Government agencies. Our foundation hopes now government agencies, like
the Social Security Administration and others will have an easier time looking up the MHE disease
information needed when people with MHE need to apply for benefits.
Our foundation requested that a section on MHE be added to this website and that all websites
providing patient information be reviewed during this process, Our foundation is the only MHE pacific
patient support organization listed, as we meet all of the criteria as required. There are only about
250 genetic conditions that have sections located on this website. To view this website Click Here
Press Release 05 / 21 / 07 4:00 pm eastern time
Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate
dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis
Development 2007 134: 2159-2169.
To read journal abstract or full publication Click Here
Eiki Koyama, Blanche Young, Motohiko Nagayama, Yoshihiro Shibukawa, Motomi Enomoto-Iwamoto,
Masahiro Iwamoto, Yukiko Maeda, Beate Lanske, Buer Song, Rosa Serra, and Maurizio Pacifici
Sarah Ziegler National Director of Research: I had the opportunity to visit with Dr. Pacifici in his lab
last July and meet with him again this past April. We had the chance to speak about the research
Dr. Pacifici has just published and the impact that this research has on MHE / MO /HME. Dr. Pacifici
and I spoke about the MHE / MO / HME research direction he and colleagues are now going to take
in the next few years as well. MHE / MO / HME is truly lucky to have such notable researchers many
of whom sever on our Scientific Advisory Board searching for the answers to some very very large
questions. The entire etiology of MHE / MO / HME must be better understood and the research
paper that Dr. Pacifici has just published has brought us one step closer.
There are times in a ones life when they need reflection, a chance to look at where we were, where
we are and where we want to be. When I first started my work, it was with plain simple blind hope
and faith that with the efforts of many that one day a treatment could be found. Now I can see after
eight years that the blind hope has been replaced with research facts and these facts now show me
that indeed a treatment is within our REACH and hope burns brighter and faith runs deeper then
ever. The direction the Scientific & Medical Advisory Board is taking MHE / MO / HME research in is
correct. It is only by carefully choosing the steps we take, that one day a treatment for MHE / MO /
MHE can be found. Again this is going to take the efforts of many and time, but boy does the future
look bright!!!
Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate
dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis
Development 2007 134: 2159-2169.
To read journal abstract or full publication Click Here
Eiki Koyama, Blanche Young, Motohiko Nagayama, Yoshihiro Shibukawa, Motomi Enomoto-Iwamoto,
Masahiro Iwamoto, Yukiko Maeda, Beate Lanske, Buer Song, Rosa Serra, and Maurizio Pacifici
Sarah Ziegler National Director of Research: I had the opportunity to visit with Dr. Pacifici in his lab
last July and meet with him again this past April. We had the chance to speak about the research
Dr. Pacifici has just published and the impact that this research has on MHE / MO /HME. Dr. Pacifici
and I spoke about the MHE / MO / HME research direction he and colleagues are now going to take
in the next few years as well. MHE / MO / HME is truly lucky to have such notable researchers many
of whom sever on our Scientific Advisory Board searching for the answers to some very very large
questions. The entire etiology of MHE / MO / HME must be better understood and the research
paper that Dr. Pacifici has just published has brought us one step closer.
There are times in a ones life when they need reflection, a chance to look at where we were, where
we are and where we want to be. When I first started my work, it was with plain simple blind hope
and faith that with the efforts of many that one day a treatment could be found. Now I can see after
eight years that the blind hope has been replaced with research facts and these facts now show me
that indeed a treatment is within our REACH and hope burns brighter and faith runs deeper then
ever. The direction the Scientific & Medical Advisory Board is taking MHE / MO / HME research in is
correct. It is only by carefully choosing the steps we take, that one day a treatment for MHE / MO /
MHE can be found. Again this is going to take the efforts of many and time, but boy does the future
look bright!!!
Press Release 1 / 19 / 08
Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid
Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New
Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple
Osteochondromas
Ivy Jennes*, Mark M. Entius{dagger}, Els Van Hul*, Alessandro Parra{ddagger}, Luca
Sangiorgi{ddagger} and Wim Wuyts*
To Read this publication Click Here
Both Luca Sangiorgi, M.D., Ph.D. and Wim Wuyts, Ph.D. are members of our Scientific & Medical
Advisory Board and our foundation helped support this research
Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid
Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New
Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple
Osteochondromas
Ivy Jennes*, Mark M. Entius{dagger}, Els Van Hul*, Alessandro Parra{ddagger}, Luca
Sangiorgi{ddagger} and Wim Wuyts*
To Read this publication Click Here
Both Luca Sangiorgi, M.D., Ph.D. and Wim Wuyts, Ph.D. are members of our Scientific & Medical
Advisory Board and our foundation helped support this research
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Press Release 2 / 13 / 08
Multiple osteochondromas
Judith V.M.G. Bovée
Orphanet Journal of Rare Diseases 2008, 3:3 (13 February 2008)
To Read this publication Click Here
Multiple osteochondromas
Judith V.M.G. Bovée
Orphanet Journal of Rare Diseases 2008, 3:3 (13 February 2008)
To Read this publication Click Here
| THE FUNTASIA RESEARCH BANQUET AND WAS A HUGE SUCCESS! THIS EVENT WAS SIMPLY MAGICAL IN EVERY SENSE OF THE WORD! During this banquet "The Humanitarian Scientific Achievement Award" was presented to Dr. Yu Yamaguchi and the "REACH Research Award" was presented to Dr. Dominique Stickens, along with CITATIONS * PROCLAMATIONS CERTIFICATES OF RECOGNITION being awarded to both by members of the U. S. Congress ~ N. Y. State Senate The Borough of Brooklyn, City of New York. To read more including press release from the Burnham Institute for Medical Research and view the video's of speechesfrom this very special day Click Here |
Identification and characterization of genes and molecular mechanisms causing multiple
osteochondroma (MHE/MO/HME) and related bone disorders, Clinical and molecular study of factors
implicated in Multiple Osteochondroma (MHE/MO/HME). It is only by the collection of large numbers of
samples and data that major progress can be made in human study of MHE.
Tumor samples are needed!, if you are under going surgery please let us know,The MHE Research
Foundation and the Researchers working on this project would like your help.Please consider
participating in the project. It does not cost you any thing to participate. Please consider completing
the on-line clinical questionnaire, full details can be read by clicking the tabs below. You do not need
to be having surgery to fill out this questionnaire. All people with MHE are needed. This research
project is not simply depending on samples & data from people with MHE / MO / HME that visit this
website, this research project is obtaining samples & data directly from hospitals around the USA
and multiple countries.
How ever you are a very important part of this approach and your help is greatly needed. There has
been major problem in human studies up until now. This was mainly due to the low number of
available samples in previous studies and the lack of a uniform phenotype scoring systems used.
With the construction of this large MHE / MO / HME network these problems have been addressed
and by pooling these samples (construction of a tissue bank) and data of MHE / MO / HME patients &
uniform phenotype scoring system. These researchers are also in contact with researchers using
animal models to study MHE / MO / HME, together we feel that even larger gains will be made in the
future. Together this approach will help greatly in achieving a much better understand of MHE / MO /
HME. Research can now move forward in a more comprehensive direction.
The MHE Research Foundation will be collaborating on this new research project with the following
researchers listed below. These researchers are partners of the EuroBoneT consortium, a European
Commission granted Network of Excellence for studying the pathology and genetics of bone tumors.
The researchers heading up this project are being assisted by other researchers in this field. All
study information is coded and personal identifiers are removed.
This foundation gives full detailed disclosure, including signed agreements between this foundation
and researchers. We also give full back round information of these researchers. We believe you
should know where and how this data is being used. This foundation will never simply request for
participation without full and detailed information.
One question many people have is why Belgium, Italy and Netherlands? Because most labs do not
invest in laborious and expensive techniques to identify mutations which are not found by standard
mutation analysis of EXT1 and EXT2. To identify a potential EXT1 or EXT2 mutation, negative
patients are analyzed with the most sensitive techniques, including RNA and promotor analysis to
identify intronic or regulatory mutation.
The identification of mutations in regulatory regions may point to sequences crucial for proper EXT
regulation and these sequences can be used as targets for the identification of proteins regulating
EXT expression. Most research that has been done in humans used only two step approach,
standard genetic testing and clinical information or standard genetic testing and the study of
tumors. This research is using comprehensive genetic testing techniques, pathology, studying
chondrocytes isolated from the exostoses and clinical information as well as the additional clues that
come from animal models. Funding is also an issue, human genetics study into MHE / MO / HME is
not being funded by the National Institute of Health, hence the vast amount of this type of research
is not done in the United States.
Pancras C.W. Hogendoorn, MD, PhD years of experience in pathology and genetics of bone tumors
has paid off ! He's the leader of the EuroBoneT consortium, a European Commission granted
Network of Excellence for studying the pathology and genetics of bone tumors and the use of
comprehensive genetic testing methods & techniques. Wim Wuyts , PH.D. has researched for years
by comprehensively studying genetics in MHE / MO / HME and by using these state of the art genetic
testing methods & techniques as well and was one of the first researchers to discover the first of the
two genes that causes MHE / MO / HME. Luca Sangiorgi, M.D., PH.D. has also been using
comprehensive genetic testing techniques in his research, the Rizzoli Orthopaedic Institute has a
clinic set up for MHE / MO / HME. Dr. Sangiorgi is also Coordinator of the Italian Registry of
Hereditary Multiple Exostoses as well. All of these researchers sever as advisors to family support
groups in there countries. Dr. Wuyts and Dr. Sangiorgi Scientific sever on the Scientific and Medical
Board of this Foundation and we are working very very closely with Dr. Hogendoorn as well.
Simply put! this is a DREAM TEAM conducting this research with state of the art testing methods &
techniques when it comes to genetics and pathology in the world of MHE / MO / HME research!. MHE
/ MO / HME research deserves the best and does not have to settle for less. They all understand and
are deeply concerned about quality of life issues people with MHE / MO / HME face every day, thus
can incorporate this into research. The MHE Research Foundation is in a uniquely qualified position of
be able to help bring research forward and address quality of life issues within research it self.
Working directly with researchers allows us to give insight into secondary symptoms that have been
over looked in many clinical settings. As important if not more important having direct contact with
so many people living with MHE / MO / HME enables us to help address quality of life issues in this
research settings as well. This was clearly illustrated by Sarah Ziegler, MHE Research Foundation's
National Director of Research in the presentation she gave at the Connective Tissue Oncology
Society conference Nov 2006 held in Venice Italy. (When clicking CTOS link it will take a few minutes
to load as there is a large amount of data located on this webpage)
This is a well balanced comprehensive research approach, the first of its kind. It is this foundation's
hope by giving detailed information about this research project and the How's and Why's that will
lead people with MHE / MO / HME to want to participate in MHE / MO / HME Research. By bring both
the MHE / MO / HME community and the Orthopaedic community together, the numbers of samples
and data will add up and ultimately make this research bear more fruit in the future.
EuroBoNet executive summary PDF file LINK
Pancras C.W. Hogendoorn, MD, PhD Principle Researcher MHERF research registry
Professor of Pathology,
Department of Pathology, Leiden University Medical Center,
Molecular tumor pathology and tumor genetics, Netherlands.
Chairman of EuroBoNeT consortium, a European Commission granted Network of Excellence for
studying the pathology and genetics of bone tumors.
Wim Wyuts, PH.D. Principle Researcher MHERF research registry
Supervisor DNA Diagnostics,
Department of Medical Genetics University
and University Hospital of Antwerp, Belgium
Partner in the EuroBoNeT consortium, a European Commission granted Network of Excellence for
studying the pathology and genetics of bone tumors.
Luca Sangiorgi, M.D., PH.D. Principle Researcher MHERF research registry
Head of the Genetics Unit, Lab Oncology Research,
Coordinator, Rare Skeletal Diseases,
Rizzoli Orthopaedic Institute, Bologna, Italy
Coordinator of the Italian Registry of Hereditary Multiple Exostoses
Coordinator Virtual Lab of Bioinformatics for Genetics and Biotech (Gebba-Lab)
Partner in the EuroBoNeT consortium, a European Commission granted Network of Excellence for
studying the pathology and genetics of bone tumors.
Project description:
Identification and characterization of genes and molecular mechanisms causing multiple
osteochondroma (MHE / MO / HME) and related bone disorders, Clinical and molecular study of
factors implicated in Multiple Osteochondroma (MHE / MO / HME).
Project aims:, the identification and study of genes involved in the disorder Multiple Osteochondroma
(MO) / Multiple Hereditary Exostoses (MHE). MHE / MO / HME is a hereditary bone disorder
characterized by the presence of bony outgrowths (osteochondromas / exostoses) on the long
bones. MHE / MO / HME patients suffer from pain caused by the pressure of the osteochondromas /
exostoses on neighboring tissues, organs or nerves. Often MHE / MO / HME patients also show
skeletal deformities. However, great clinical variability is observed between the various patients, even
within one family.
It has been shown that mutations in one of two genes, EXT1 or EXT2, are responsible for the
majority of MHE / MO / HME cases. However, the exact mechanism leading to the development of
osteochondromas is still not fully understood.
This project concentrates on the molecular aspects of MHE / MO / HME. Tumor and blood samples
and data of MHE / MO / HME patients are collected and studied to see how they differ from samples
from healthy individuals. This may provide valuable information on the mechanisms of
osteochondroma / exostoses development and may give us more insight in factors leading to the
clinical variability.
Your medical care indicates the need to have bone tissue (tumor) removed. We obtain tumor / blood
samples from participants taken during this surgery they are sent to our laboratory for study
osteochondroma (MHE/MO/HME) and related bone disorders, Clinical and molecular study of factors
implicated in Multiple Osteochondroma (MHE/MO/HME). It is only by the collection of large numbers of
samples and data that major progress can be made in human study of MHE.
Tumor samples are needed!, if you are under going surgery please let us know,The MHE Research
Foundation and the Researchers working on this project would like your help.Please consider
participating in the project. It does not cost you any thing to participate. Please consider completing
the on-line clinical questionnaire, full details can be read by clicking the tabs below. You do not need
to be having surgery to fill out this questionnaire. All people with MHE are needed. This research
project is not simply depending on samples & data from people with MHE / MO / HME that visit this
website, this research project is obtaining samples & data directly from hospitals around the USA
and multiple countries.
How ever you are a very important part of this approach and your help is greatly needed. There has
been major problem in human studies up until now. This was mainly due to the low number of
available samples in previous studies and the lack of a uniform phenotype scoring systems used.
With the construction of this large MHE / MO / HME network these problems have been addressed
and by pooling these samples (construction of a tissue bank) and data of MHE / MO / HME patients &
uniform phenotype scoring system. These researchers are also in contact with researchers using
animal models to study MHE / MO / HME, together we feel that even larger gains will be made in the
future. Together this approach will help greatly in achieving a much better understand of MHE / MO /
HME. Research can now move forward in a more comprehensive direction.
The MHE Research Foundation will be collaborating on this new research project with the following
researchers listed below. These researchers are partners of the EuroBoneT consortium, a European
Commission granted Network of Excellence for studying the pathology and genetics of bone tumors.
The researchers heading up this project are being assisted by other researchers in this field. All
study information is coded and personal identifiers are removed.
This foundation gives full detailed disclosure, including signed agreements between this foundation
and researchers. We also give full back round information of these researchers. We believe you
should know where and how this data is being used. This foundation will never simply request for
participation without full and detailed information.
One question many people have is why Belgium, Italy and Netherlands? Because most labs do not
invest in laborious and expensive techniques to identify mutations which are not found by standard
mutation analysis of EXT1 and EXT2. To identify a potential EXT1 or EXT2 mutation, negative
patients are analyzed with the most sensitive techniques, including RNA and promotor analysis to
identify intronic or regulatory mutation.
The identification of mutations in regulatory regions may point to sequences crucial for proper EXT
regulation and these sequences can be used as targets for the identification of proteins regulating
EXT expression. Most research that has been done in humans used only two step approach,
standard genetic testing and clinical information or standard genetic testing and the study of
tumors. This research is using comprehensive genetic testing techniques, pathology, studying
chondrocytes isolated from the exostoses and clinical information as well as the additional clues that
come from animal models. Funding is also an issue, human genetics study into MHE / MO / HME is
not being funded by the National Institute of Health, hence the vast amount of this type of research
is not done in the United States.
Pancras C.W. Hogendoorn, MD, PhD years of experience in pathology and genetics of bone tumors
has paid off ! He's the leader of the EuroBoneT consortium, a European Commission granted
Network of Excellence for studying the pathology and genetics of bone tumors and the use of
comprehensive genetic testing methods & techniques. Wim Wuyts , PH.D. has researched for years
by comprehensively studying genetics in MHE / MO / HME and by using these state of the art genetic
testing methods & techniques as well and was one of the first researchers to discover the first of the
two genes that causes MHE / MO / HME. Luca Sangiorgi, M.D., PH.D. has also been using
comprehensive genetic testing techniques in his research, the Rizzoli Orthopaedic Institute has a
clinic set up for MHE / MO / HME. Dr. Sangiorgi is also Coordinator of the Italian Registry of
Hereditary Multiple Exostoses as well. All of these researchers sever as advisors to family support
groups in there countries. Dr. Wuyts and Dr. Sangiorgi Scientific sever on the Scientific and Medical
Board of this Foundation and we are working very very closely with Dr. Hogendoorn as well.
Simply put! this is a DREAM TEAM conducting this research with state of the art testing methods &
techniques when it comes to genetics and pathology in the world of MHE / MO / HME research!. MHE
/ MO / HME research deserves the best and does not have to settle for less. They all understand and
are deeply concerned about quality of life issues people with MHE / MO / HME face every day, thus
can incorporate this into research. The MHE Research Foundation is in a uniquely qualified position of
be able to help bring research forward and address quality of life issues within research it self.
Working directly with researchers allows us to give insight into secondary symptoms that have been
over looked in many clinical settings. As important if not more important having direct contact with
so many people living with MHE / MO / HME enables us to help address quality of life issues in this
research settings as well. This was clearly illustrated by Sarah Ziegler, MHE Research Foundation's
National Director of Research in the presentation she gave at the Connective Tissue Oncology
Society conference Nov 2006 held in Venice Italy. (When clicking CTOS link it will take a few minutes
to load as there is a large amount of data located on this webpage)
This is a well balanced comprehensive research approach, the first of its kind. It is this foundation's
hope by giving detailed information about this research project and the How's and Why's that will
lead people with MHE / MO / HME to want to participate in MHE / MO / HME Research. By bring both
the MHE / MO / HME community and the Orthopaedic community together, the numbers of samples
and data will add up and ultimately make this research bear more fruit in the future.
EuroBoNet executive summary PDF file LINK
Pancras C.W. Hogendoorn, MD, PhD Principle Researcher MHERF research registry
Professor of Pathology,
Department of Pathology, Leiden University Medical Center,
Molecular tumor pathology and tumor genetics, Netherlands.
Chairman of EuroBoNeT consortium, a European Commission granted Network of Excellence for
studying the pathology and genetics of bone tumors.
Wim Wyuts, PH.D. Principle Researcher MHERF research registry
Supervisor DNA Diagnostics,
Department of Medical Genetics University
and University Hospital of Antwerp, Belgium
Partner in the EuroBoNeT consortium, a European Commission granted Network of Excellence for
studying the pathology and genetics of bone tumors.
Luca Sangiorgi, M.D., PH.D. Principle Researcher MHERF research registry
Head of the Genetics Unit, Lab Oncology Research,
Coordinator, Rare Skeletal Diseases,
Rizzoli Orthopaedic Institute, Bologna, Italy
Coordinator of the Italian Registry of Hereditary Multiple Exostoses
Coordinator Virtual Lab of Bioinformatics for Genetics and Biotech (Gebba-Lab)
Partner in the EuroBoNeT consortium, a European Commission granted Network of Excellence for
studying the pathology and genetics of bone tumors.
Project description:
Identification and characterization of genes and molecular mechanisms causing multiple
osteochondroma (MHE / MO / HME) and related bone disorders, Clinical and molecular study of
factors implicated in Multiple Osteochondroma (MHE / MO / HME).
Project aims:, the identification and study of genes involved in the disorder Multiple Osteochondroma
(MO) / Multiple Hereditary Exostoses (MHE). MHE / MO / HME is a hereditary bone disorder
characterized by the presence of bony outgrowths (osteochondromas / exostoses) on the long
bones. MHE / MO / HME patients suffer from pain caused by the pressure of the osteochondromas /
exostoses on neighboring tissues, organs or nerves. Often MHE / MO / HME patients also show
skeletal deformities. However, great clinical variability is observed between the various patients, even
within one family.
It has been shown that mutations in one of two genes, EXT1 or EXT2, are responsible for the
majority of MHE / MO / HME cases. However, the exact mechanism leading to the development of
osteochondromas is still not fully understood.
This project concentrates on the molecular aspects of MHE / MO / HME. Tumor and blood samples
and data of MHE / MO / HME patients are collected and studied to see how they differ from samples
from healthy individuals. This may provide valuable information on the mechanisms of
osteochondroma / exostoses development and may give us more insight in factors leading to the
clinical variability.
Your medical care indicates the need to have bone tissue (tumor) removed. We obtain tumor / blood
samples from participants taken during this surgery they are sent to our laboratory for study
|
Press Release 11 / 02 / 07
Contribution of EXT1, EXT2, and EXTL3 to Heparan Sulfate Chain Elongation*
J. Biol. Chem., Vol. 282, Issue 45, 32802-32810, November 9, 2007
To read journal abstract or full publication Click Here
Marta Busse, Almir Feta, Jenny Presto, Maria Wilén, Mona Grønning, Lena Kjellén, and Marion
Kusche-Gullberg
From the Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5009 Bergen,
Norway and the Department of Medical Biochemistry and Microbiology, University of Uppsala, BMC
Box 582, SE-751 23 Uppsala, Sweden
Dr. Marion Kusche-Gullberg presented her research findings during the first MHE Research
Conference held in 2002 and again at the last conference held 2005 and look forward to having the
honor of having her present her research again at the Third International MHE Research Conference
to be held July 8-11, 2009. Our Foundation would like to thank Marion and all of the research
investigators working with her for all of her research efforts over the past many years and the
insights they have on Multiple Hereditary Exostoses.
Contribution of EXT1, EXT2, and EXTL3 to Heparan Sulfate Chain Elongation*
J. Biol. Chem., Vol. 282, Issue 45, 32802-32810, November 9, 2007
To read journal abstract or full publication Click Here
Marta Busse, Almir Feta, Jenny Presto, Maria Wilén, Mona Grønning, Lena Kjellén, and Marion
Kusche-Gullberg
From the Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5009 Bergen,
Norway and the Department of Medical Biochemistry and Microbiology, University of Uppsala, BMC
Box 582, SE-751 23 Uppsala, Sweden
Dr. Marion Kusche-Gullberg presented her research findings during the first MHE Research
Conference held in 2002 and again at the last conference held 2005 and look forward to having the
honor of having her present her research again at the Third International MHE Research Conference
to be held July 8-11, 2009. Our Foundation would like to thank Marion and all of the research
investigators working with her for all of her research efforts over the past many years and the
insights they have on Multiple Hereditary Exostoses.
Press Release 06 / 04 / 07
Tumor Location Affects the Results of Simple Excision for Multiple Osteochondromas in the
Forearm
J Bone Joint Surg Am. 2007;89:1238-1247.
To read journal abstract or full publication Click Here
Jun-ichi Ishikawa, MD1, Hiroyuki Kato, MD2, Fumio Fujioka, MD3, Norimasa Iwasaki, MD1, Naoki
Suenaga, MD1 and Akio Minami, MD1
Tumor Location Affects the Results of Simple Excision for Multiple Osteochondromas in the
Forearm
J Bone Joint Surg Am. 2007;89:1238-1247.
To read journal abstract or full publication Click Here
Jun-ichi Ishikawa, MD1, Hiroyuki Kato, MD2, Fumio Fujioka, MD3, Norimasa Iwasaki, MD1, Naoki
Suenaga, MD1 and Akio Minami, MD1
Press Release 05 / 01 / 07
Dedifferentiated Chondrosarcomas Arising in Preexisting Osteochondromas
J Bone Joint Surg Am. 2007;89:987-993.
To read journal abstract or full publication Click Here
Dedifferentiated Chondrosarcomas Arising in Preexisting Osteochondromas
J Bone Joint Surg Am. 2007;89:987-993.
To read journal abstract or full publication Click Here
| Hot Off The Press |
The MHE Research Foundation, we comply with the HONcode standard for health trust worthy information:
By the Health On the Net Foundation. Click here to verify.# HON Conduct 282463 and is linked on the NIH
National Library of Medicine, Directory of Health Organizations (SIS) website, as well as the link for Patient
Information on The Diseases Database a cross-referenced index of human disease, and 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
By the Health On the Net Foundation. Click here to verify.# HON Conduct 282463 and is linked on the NIH
National Library of Medicine, Directory of Health Organizations (SIS) website, as well as the link for Patient
Information on The Diseases Database a cross-referenced index of human disease, and 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
To participate please click the these links
Lauren McCabe was born with MHE and had fixator surgery done on her left arm, as it was nearly
two inches shorter than her right. Lauren's story was presented on GOOD MORNING AMERICA on
Dec 21, 2007.
To see the video of Lauren's story Click Here
two inches shorter than her right. Lauren's story was presented on GOOD MORNING AMERICA on
Dec 21, 2007.
To see the video of Lauren's story Click Here
Press Release 3 / 12 / 08
The MHE Research Foundation is honored to welcome Dr. Charles T. Price, Dr. Scott H. Kozin, Dr.
Alexandre Arkader and Henry H. Roehl, PH.D. to our distinguished Scientific and Medical Advisory
Board. As we will continue to add more clinical & research information, additional video presentations
to our website and working jointly with our board to ensure MHE / MO / HME is presented at a wide
range of Orthopaedic, Genetic, Research conferences as well as other clinical educational venue. We
are continuing collaborations with the Orthopaedic & Research communities in many many different
areas of research illustrated throughout our website. Together working hand in hand with all of
these dedicated professionals, who have shown years of leadership in their fields, our foundation is a
true partnership who's efforts benefit all who are affected by MHE / MO / HME. Our foundation is
sincerely grateful to all of these professionals who give so much of their time and effort serving on
our foundation’s Scientific and Medical Advisory Board.
Thank You
Board of Directors
The MHE Research Foundation is honored to welcome Dr. Charles T. Price, Dr. Scott H. Kozin, Dr.
Alexandre Arkader and Henry H. Roehl, PH.D. to our distinguished Scientific and Medical Advisory
Board. As we will continue to add more clinical & research information, additional video presentations
to our website and working jointly with our board to ensure MHE / MO / HME is presented at a wide
range of Orthopaedic, Genetic, Research conferences as well as other clinical educational venue. We
are continuing collaborations with the Orthopaedic & Research communities in many many different
areas of research illustrated throughout our website. Together working hand in hand with all of
these dedicated professionals, who have shown years of leadership in their fields, our foundation is a
true partnership who's efforts benefit all who are affected by MHE / MO / HME. Our foundation is
sincerely grateful to all of these professionals who give so much of their time and effort serving on
our foundation’s Scientific and Medical Advisory Board.
Thank You
Board of Directors
| ||||||||||||||||||||||
Press Release 5/ 09 / 08
We are pleased to announce Yu Yamaguchi, M.D., PH.D. a member of our Scientific and Medical
Advisory Board has been named as one of the three senor investigators at the new Sanford Children’s
Health Research Center located at the Burnham Institute for Medical Research in San Diego CA, where
he will continue his research efforts to read this Press Release Click Here
We are pleased to announce Yu Yamaguchi, M.D., PH.D. a member of our Scientific and Medical
Advisory Board has been named as one of the three senor investigators at the new Sanford Children’s
Health Research Center located at the Burnham Institute for Medical Research in San Diego CA, where
he will continue his research efforts to read this Press Release Click Here
Press Release 5/13 / 08
The UnitedHealthcare Children's Foundation is offering support to meet the needs of children across
the United States with assistance grants for medical services not fully covered by health insurance.
To read Click Here
The UnitedHealthcare Children's Foundation is offering support to meet the needs of children across
the United States with assistance grants for medical services not fully covered by health insurance.
To read Click Here