| ||||||||||||||||||||||
Welcome ! to the MHE Research Foundation website The MHE Research Foundation is a nonprofit 501(c)(3) organization dedicated to the support of, Researchers, Physicians and Families, Dealing with (MHE) Multiple Hereditary Exostoses Syndrome/(MO) Multiple Osteochondroma Syndrome a Rare Genetic Bone Disease. The MHE Research Foundations five point mission is to REACH, advance & support the following. |
| |||||||||||||||||||
| RESEARCH, to assist and support researchers in order to one day discover a treatment/cure for MHE/MO/HME. Our foundation works hand in hand with researchers from around the world in this mission. EDUCATION, to provide vital clinical informational guides benefiting both families and physicians. ADVOCACY, bring awareness about this rare neglected bone disease throughout the world. CLINICAL, to help provide resources to families enabling them to locate the medical care they require. HOPE, the research being conducted on MHE/MO/HME & the informational resources will bring a better quality of life to the families affected by this syndrome around the world. Scroll down to read highlights, use the tool bar section tabs above to view complete website information. |
Toll Free 1-877-486-1758
Send us your comments, question & thoughts Click Here
This online registration forms has been encrypted with the following, SSL AES 256 bit encryption (High); RSA 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.
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.
| HIGH IMPORTANCE Please register your contact information to receive the MHE Research Foundations "~ e ~ newsletter flash" |
|
| Research "PATIENT" Registry Click Here ** MHE / MO / HME Research Project is OPEN and needs patient participation.** Tumor and Blood samples are needed. If you or your child is having surgery please consider donating these tumors samples to research. Click Here |
The MHERF website has a language translations section, you can find all website pages that have been encoded for translation
into German, Chinese, Japanese, Korean, Arabic, French, Portuguese, Spanish and Italian languages.
into German, Chinese, Japanese, Korean, Arabic, French, Portuguese, Spanish and Italian languages.
| General donations to our foundation can be made Monthly,Quarterly,Annually as well as one time donation |
All donations made to the MHE Research Foundation are exempt from Federal Income Taxes under Section 501(c)(3) of the
Internal Revenue Code and are greatly appreciated. All donations go to help this foundation in its efforts to the further
understanding of MHE through research and education.
Internal Revenue Code and are greatly appreciated. All donations go to help this foundation in its efforts to the further
understanding of MHE through research and education.
| Make A Donation Via Check |
| Make a donation to help support the Forth International MHE / MO / HME Research Conference |
Donation of $50.00
Donation of $15.00
Donation of $25.00
Donation of $75.00
Donation of $100.00
Donation made in other amount
or
| Announcement Third International MHE Research was held on Oct 29 - Nov 21, 2009 |
|
HOT OFF THE NEWSWIRE
Nov 17, 2009
Luca Sangiorgi, M.D., Ph.D., a member of the foundations Scientific & Medical Advisory Board.
" BOLOGNA, Italy, Nov. 17 /PRNewswire-FirstCall/ -- IBM (NYSE: IBM) announced today that its Research scientists are
working with the Rizzoli Orthopedic Institute, in Bologna, Italy, to use information technology to better address treatment and
research for rare genetic skeletal diseases"
Nov 3, 2009
Maurizio Pacifici, Ph.D. a member of the foundations Scientific & Medical Advisory Board.
Jefferson researchers receive $3.9 million in Challenge grants
EurekAlert (press release) - Washington,DC,USA
Maurizio Pacifici, Ph.D., director of Orthopedic Research, will receive $1 million over two years to study Hereditary Multiple
Exostosis Syndrome (HME)
Nov 17, 2009
Luca Sangiorgi, M.D., Ph.D., a member of the foundations Scientific & Medical Advisory Board.
" BOLOGNA, Italy, Nov. 17 /PRNewswire-FirstCall/ -- IBM (NYSE: IBM) announced today that its Research scientists are
working with the Rizzoli Orthopedic Institute, in Bologna, Italy, to use information technology to better address treatment and
research for rare genetic skeletal diseases"
Nov 3, 2009
Maurizio Pacifici, Ph.D. a member of the foundations Scientific & Medical Advisory Board.
Jefferson researchers receive $3.9 million in Challenge grants
EurekAlert (press release) - Washington,DC,USA
Maurizio Pacifici, Ph.D., director of Orthopedic Research, will receive $1 million over two years to study Hereditary Multiple
Exostosis Syndrome (HME)
The MHE Research Foundations President Craig A. Eaton and Vice President Sarah Ziegler server as delegates
during the Bone and Joint Decade World Network Conference and Patient Advocacy Meeting held in Washington DC
on October 21-24, 2009. In the MHE Research Foundation continuing efforts to support and represent neglected
rare bone diseases.
Participants from the US from 56 nations came together at the 2009 Bone and Joint Decade World Network Conference and
Patient Advocacy Seminar. This elite group including government policy makers, doctors, researchers, NGOs and patient
advocates, focused on musculoskeletal health in the US, as well as internationally, and developing strategies to advance
prevention and treatment to be implemented in the US and globally over the coming 10 years.
To read more about this conference and watch video Click Here
during the Bone and Joint Decade World Network Conference and Patient Advocacy Meeting held in Washington DC
on October 21-24, 2009. In the MHE Research Foundation continuing efforts to support and represent neglected
rare bone diseases.
Participants from the US from 56 nations came together at the 2009 Bone and Joint Decade World Network Conference and
Patient Advocacy Seminar. This elite group including government policy makers, doctors, researchers, NGOs and patient
advocates, focused on musculoskeletal health in the US, as well as internationally, and developing strategies to advance
prevention and treatment to be implemented in the US and globally over the coming 10 years.
To read more about this conference and watch video Click Here
| The AWARENESS ribbon color for MHE/ MO /HME is WHITE. Please show your support for our cause by wearing a white ribbon this way when people ask! You can let them know what our ribbon means. |
| CONNECTION CORNER MHE FAMILY SUPPORT SECTION VIEW CLICK HERE |
http://www.limblengtheningdoc.org
http://www.lengthening.us/index.html
http://www.lengthening.us
http://www.stmarysmc.com/en-US/ourServices/medic
alServices/Pages/PaleyAdvancedLimbLengtheningI
nstitute.aspx
http://www.lengthening.us/index.html
http://www.lengthening.us
http://www.stmarysmc.com/en-US/ourServices/medic
alServices/Pages/PaleyAdvancedLimbLengtheningI
nstitute.aspx
New Publications
Primary cilia organization reflects polarity in the growth plate and implies loss of polarity and mosaicism in
osteochondroma.
de Andrea CE, Wiweger M, Prins F, Bovée JV, Romeo S, Hogendoorn PC.
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
International Journal of Laboratory Investigation (April issue)
http://www.nature.com/labinvest/journal/vaop/ncurrent/abs/labinvest201081a.html
Sugars, bones, and a disease called multiple hereditary exostoses
Henry H. Roehl, Maurizio Pacifici
Journal of Developmental Dynamics May issue
http://www3.interscience.wiley.com/journal/123345707/abstract
EXTra hit for mouse osteochondroma
Judith V. M. G. Bovée
10.1073/pnas.0914431107 PNAS published February 2, 2010 vol. 107 no. 5 1813-1814
Biological Sciences - Developmental Biology:
A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes
Kevin B. Jones, Virginia Piombo, Charles Searby, Gail Kurriger, Baoli Yang, Florian Grabellus, Peter J. Roughley, Jose A.
Morcuende, Joseph A. Buckwalter, Mario R. Capecchi, Andrea Vortkamp, and Val C. Sheffield
PNAS published online doi:10.1073/pnas.0910875107
Mutation in the heparan sulfate biosynthesis enzyme Ext1 influences growth factor signaling and fibroblast
interaction with the extracellular matrix.
Cecilia Österholm, Malgorzata M. Barczyk, Marta Busse, Mona Grønning, Rolf K. Reed, and Marion Kusche-Gullberg
J. Biol. Chem. 2009 284: 34935-34943. First Published on October 22, 2009, doi:10.1074/jbc.M109.005264
Full Text (PDF)
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database
(MOdb).
Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W.
Hum Mutat. 2009 Oct 6
Involvement of the Spine in Patients with Multiple Hereditary Exostoses
James W. Roach, Joshua W.B. Klatt, and Nathan D. Faulkner
The Journal of Bone and Joint Surgery. Am., Aug 2009; 91: 1942 - 1948.
Benjamin A. Alman
Multiple Hereditary Exostosis and Hedgehog Signaling: Implications for Novel Therapies
The Journal of Bone and Joint Surgery. Am., Jul 2009; 91: 63 - 67.
Linda J. Sandell
Multiple Hereditary Exostosis, EXT Genes, and Skeletal Development
The Journal of Bone and Joint Surgery. Am., Jul 2009; 91: 58 - 62.
osteochondroma.
de Andrea CE, Wiweger M, Prins F, Bovée JV, Romeo S, Hogendoorn PC.
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
International Journal of Laboratory Investigation (April issue)
http://www.nature.com/labinvest/journal/vaop/ncurrent/abs/labinvest201081a.html
Sugars, bones, and a disease called multiple hereditary exostoses
Henry H. Roehl, Maurizio Pacifici
Journal of Developmental Dynamics May issue
http://www3.interscience.wiley.com/journal/123345707/abstract
EXTra hit for mouse osteochondroma
Judith V. M. G. Bovée
10.1073/pnas.0914431107 PNAS published February 2, 2010 vol. 107 no. 5 1813-1814
Biological Sciences - Developmental Biology:
A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes
Kevin B. Jones, Virginia Piombo, Charles Searby, Gail Kurriger, Baoli Yang, Florian Grabellus, Peter J. Roughley, Jose A.
Morcuende, Joseph A. Buckwalter, Mario R. Capecchi, Andrea Vortkamp, and Val C. Sheffield
PNAS published online doi:10.1073/pnas.0910875107
Mutation in the heparan sulfate biosynthesis enzyme Ext1 influences growth factor signaling and fibroblast
interaction with the extracellular matrix.
Cecilia Österholm, Malgorzata M. Barczyk, Marta Busse, Mona Grønning, Rolf K. Reed, and Marion Kusche-Gullberg
J. Biol. Chem. 2009 284: 34935-34943. First Published on October 22, 2009, doi:10.1074/jbc.M109.005264
Full Text (PDF)
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database
(MOdb).
Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W.
Hum Mutat. 2009 Oct 6
Involvement of the Spine in Patients with Multiple Hereditary Exostoses
James W. Roach, Joshua W.B. Klatt, and Nathan D. Faulkner
The Journal of Bone and Joint Surgery. Am., Aug 2009; 91: 1942 - 1948.
Benjamin A. Alman
Multiple Hereditary Exostosis and Hedgehog Signaling: Implications for Novel Therapies
The Journal of Bone and Joint Surgery. Am., Jul 2009; 91: 63 - 67.
Linda J. Sandell
Multiple Hereditary Exostosis, EXT Genes, and Skeletal Development
The Journal of Bone and Joint Surgery. Am., Jul 2009; 91: 58 - 62.
Written consent must be obtained to attach web pages or the files attached to this website, please email the webmaster. Email the webmaster: webmaster@mheresearchfoundation.org Materials on this website are protected by copyright Copyright © 2010 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. This web page was updated last on 6/1/10, 5:0O pm Eastern time |
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 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
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.
| This website is regularly reviewed by members of the Scientific and Medical Advisory Board of the MHE Research Foundation. All online submission forms use (SSL AES 256 bit encryption (High); RSA 1024 bit exchange) Protocol with Privacy protection. Our goal is to make this website as safe and user friendly as possible. |
| The MHE Research Foundation is a participating member organization of the United States Bone and Joint Decade, (USBJD) & the USBJD Rare Bone Disease Patient Network |
The MHE Research Foundation is proud to be an affiliate of the Society For Glycobiology
| INITIATIVE PUT INTO ACTION SETTING THE BENCH MARK FOR RARE DISEASE DAY! The MHE Research Foundations/Sanford-Burnham hosted the inaugural Rare Disease Symposium held on Feb 26th, 2010 a unique format in which patients and their families were given a voice— and the scientists were there to listen. Symposium program / Video presentations from the conference Sanford~Burnham New Letter article |
| Exuberant News! Chalk one up for Neglected Rare Bone Disease! |
On behalf of the Rare Bone Disease Patient Network our foundations Vice President and National Director of Research Sarah Ziegler applied for
and was granted an Educational display at the AAOS conference held on March 9-13, 2010. Sarah was accompanied by Charles
Harles, President of the Fibrous Dysplasia Foundation.
and was granted an Educational display at the AAOS conference held on March 9-13, 2010. Sarah was accompanied by Charles
Harles, President of the Fibrous Dysplasia Foundation.
| VIDEO MAY TAKE A FEW MINUTES TO LOAD |
| The MHE Research Foundation We are pleased to welcome Marjorie (Max) Reynolds as the new Patient/Family Care Coordinator. |
If you are in the need of obtaining an Orthopaedic Surgeon and family support, please feel free to contact Max at anytime at
maxreynolds@mheresearchfoundation.org or maxreynoldsmhe@gmail.com or call our toll free phone number. As part of Max new
role within the Foundation she is Director of the MHE / MO / HME Google support group and Facebook etc and is assistant to Vice President
Sarah Ziegler as Coordinator Clinical and Research Information.
maxreynolds@mheresearchfoundation.org or maxreynoldsmhe@gmail.com or call our toll free phone number. As part of Max new
role within the Foundation she is Director of the MHE / MO / HME Google support group and Facebook etc and is assistant to Vice President
Sarah Ziegler as Coordinator Clinical and Research Information.
| The MHE Research Foundation is pleased to Announce Sarah Ziegler has been elected Co-Chair of the United States Bone and Joint Decade (USBJD) Rare Bone Disease Patient Network |
Sarah will be traveling to Washington on June 14, to Co- Chair an important strategic strategy planning meeting to be held at the
American Society for Bone and Mineral Research
American Society for Bone and Mineral Research
Our Foundations Vice President and National Director of Research Sarah Ziegler applied for and was granted an Educational display by the
Pediatric Orthopaedic Society of North America (POSNA) held on May 4 - May 7, 2010 in Waikoloa, Hawaii. Sarah was accompanied by Joanne
Joseph, Vice President The XLH Network, Inc (Genetic Hypophosphatemic Rickets)
Pediatric Orthopaedic Society of North America (POSNA) held on May 4 - May 7, 2010 in Waikoloa, Hawaii. Sarah was accompanied by Joanne
Joseph, Vice President The XLH Network, Inc (Genetic Hypophosphatemic Rickets)
MHE / MO / HME is a genetic bone disorder in which benign cartilage-capped bone tumors grow outward from the metaphyses of
long bones, growth plates or from the surface of flat bones throughout the body. The severity of this disease varies widely.
Some patients may have as few as two tumors, but most patients develop many more and the numbers of tumors can run into
the hundreds.
These cartilage-capped bone tumors are called Exostoses / Osteochondroma and may be sessile or pedunculated and vary
widely in size and shape. Pedunculated Exostoses / Osteochondroma is when a stalk is present, the structure is called
pedunculated. These have a Broccoli like appearance with stalk and growth towards the end of the stalk. Sessile Exostoses /
Osteochondroma have a broad-base attachment to the outer bone, called the "cortex". These have a lumpy / bumpy
appearance (When no stalk is present, these are called sessile)
These Exostoses / Osteochondromas can cause numerous problems, including: compression of peripheral nerves or blood
vessels; irritation of tendons and muscles resulting in pain and loss of motion; skeletal deformity; short stature; limb length
discrepancy; chronic pain and fatigue; mobility issues; early onset arthritis; and an increased risk of developing malignant tumor
transformation (chondro-sarcoma) reported risk of 2%-5% over life time. It is not uncommon for MHE / MO / HME patients to
undergo numerous surgical procedures throughout their lives to remove painful or deforming Exostoses / Osteochondromas
and or to correct limb length discrepancies and improve range of motion.
Surgery, physical therapy and pain management are currently the only options available to MHE / MO / HME patients, but their
success varies from patient to patient and many struggle with chronic pain, fatigue and mobility problems throughout their lives.
MHE / MO / HME is a genetic autosomal dominant hereditary disorder. This means that a patient with MHE / MO / MHE has a
50% chance of transmitting this disorder to his / her children. Approximately 10% -20% of individuals with MHE / MO / HME
have the condition as a result of a spontaneous mutation are thus the first person in their family to be affected.
There are two known genes found to cause MHE / MO / HME they are EXT1 located on chromosome 8q23-q24 and EXT2 located
on chromosome 11p11-p12. Approximately 60 to 70 % of mutations are located in the EXT1 gene and 20 to 30% are located in the EXT2
gene. In 10 to 20% of the patients, no mutation is found.
long bones, growth plates or from the surface of flat bones throughout the body. The severity of this disease varies widely.
Some patients may have as few as two tumors, but most patients develop many more and the numbers of tumors can run into
the hundreds.
These cartilage-capped bone tumors are called Exostoses / Osteochondroma and may be sessile or pedunculated and vary
widely in size and shape. Pedunculated Exostoses / Osteochondroma is when a stalk is present, the structure is called
pedunculated. These have a Broccoli like appearance with stalk and growth towards the end of the stalk. Sessile Exostoses /
Osteochondroma have a broad-base attachment to the outer bone, called the "cortex". These have a lumpy / bumpy
appearance (When no stalk is present, these are called sessile)
These Exostoses / Osteochondromas can cause numerous problems, including: compression of peripheral nerves or blood
vessels; irritation of tendons and muscles resulting in pain and loss of motion; skeletal deformity; short stature; limb length
discrepancy; chronic pain and fatigue; mobility issues; early onset arthritis; and an increased risk of developing malignant tumor
transformation (chondro-sarcoma) reported risk of 2%-5% over life time. It is not uncommon for MHE / MO / HME patients to
undergo numerous surgical procedures throughout their lives to remove painful or deforming Exostoses / Osteochondromas
and or to correct limb length discrepancies and improve range of motion.
Surgery, physical therapy and pain management are currently the only options available to MHE / MO / HME patients, but their
success varies from patient to patient and many struggle with chronic pain, fatigue and mobility problems throughout their lives.
MHE / MO / HME is a genetic autosomal dominant hereditary disorder. This means that a patient with MHE / MO / MHE has a
50% chance of transmitting this disorder to his / her children. Approximately 10% -20% of individuals with MHE / MO / HME
have the condition as a result of a spontaneous mutation are thus the first person in their family to be affected.
There are two known genes found to cause MHE / MO / HME they are EXT1 located on chromosome 8q23-q24 and EXT2 located
on chromosome 11p11-p12. Approximately 60 to 70 % of mutations are located in the EXT1 gene and 20 to 30% are located in the EXT2
gene. In 10 to 20% of the patients, no mutation is found.
| What is Multiple Hereditary Exostoses Syndrome? Multiple Hereditary Exostoses (MHE) also often referred to as Hereditary Multiple Exostoses (HME) Multiple Osteochondromas (MO) is the preferred term used by the World Health Organization "WHO". |
| John P. Dormans, M.D. Chief Orthopaedic Surgery The Children's Hospital of Philadelphia Professor of Orthopaedic Surgery University of Pennsylvania School of Medicine Has been awarded the 2009 MHE Research Foundation "The Humanitarian Scientific Achievement Award" along with the awarding of ~ New York City Council ~ PROCLAMATION ~ ~ New York State Senate ~ LEGISLATIVE RESOLUTION ~ ~ The Borough of Brooklyn, City of New York. ~ CITATION ~ The MHE Research Foundation also received LEGISLATIVE RESOLUTION Honoring our foundation efforts on behalf of Multiple Hereditary Exostoses and the progress we are making. These awards were presented during the FUNTASIA (Eaton family) Vincent, Chris, Danielle, Susan Eaton Director of Fundraising &Craig A. Eaton Esq, President MHE Research Foundation, New York City Mayor Mayor Bloomberg, Dr. John P. Dormans, Sarah Ziegler Vice President MHE Research Foundation, Robert Ziegler, Sarah's husband Dean Collura, taken during this event To read more about this event Click Here (please note this webpage may take a minute to load) |
| Dr. John P. Dormans 2009 POSNA President |
| Dr. William Cole, Dr. Charles T. Price, 2005 POSNA President |
| Dr. John P. Dormans, Dr. Scott Mubarak Presidential Guest Speaker, 2003 POSNA President |
| Joanne Joseph, Dr. Stuart Weinstein, Distingushed Achievement Award, Sarah Ziegler |
| Dr. James Roach 2010, POSNA President |
| Dr. Steven Richards, 2008 POSNA President |
| Dr. Francois Fassier |
| Dr. Alexandre Arkader |
| MAJOR PRESS RELEASE RESEARCH BREAKTHROUGH BY THE SANFORD-BURNHAM |
Conditional ablation of the heparan sulfate-synthesizing enzyme Ext1 leads to dysregulation of BMP signaling and
severe skeletal defects.
Matsumoto Y, Matsumoto K, Irie F, Fukushi JI, Stallcup WB, Yamaguchi Y.
Sanford-Burnham Medical Research Institute, United States.
10.1074/jbc.M110.105338
To read this full text publication Click Here
severe skeletal defects.
Matsumoto Y, Matsumoto K, Irie F, Fukushi JI, Stallcup WB, Yamaguchi Y.
Sanford-Burnham Medical Research Institute, United States.
10.1074/jbc.M110.105338
To read this full text publication Click Here