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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 "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.
Pure White Wings All children are born as pure as small white doves with spirits eager to soar. With nurture and care, over time they spread their wings as they grow. With the warm summer breeze, parents take great joy in watching our kids learn to fly. Flying around the clear blue sky with endless amounts of energy. Darting gracefully between cotton cloud dreams as these little doves fly after one another while playing and chasing their dreams. You see our pure white doves were born with the same eager spirit, but also with BROKEN WINGS. Wings that are lame, bumpy and crooked, this hampers their ability to fly. Many times they simply watch through a window as others fly to follow their dreams. They can only imagine the feeling of boundless energies of freedom. Imagining what it would be like to dart at will between cotton cloud dreams, during the warm summer breeze. While their wings maybe broken, their SPIRITS SOAR, giving these kids the unmatched strength, courage and determination to overcome and wisdom far beyond their years. It is their SPIRIT! Gracing them to find other adventures in life and spotting joy that others over look or take for granted. Their energies are saved for times when it's needed for them to be able to overcome the challenges they face day in and day out. Their strength is used to endure the many surgeries and pain they face, trying to repair broken wings. Hoping that this surgery will be their last. The WINGS OF HOPE lead the way as we REACH for the CURE! In order to fix our children’s broken wings once and for all. To put an end to a life time of sitting on the side lines, watching others through the window. So they may also one day truly feel all the scenes of freedom others enjoy. WHO ARE THESE WINGS OF HOPE? YOU ASK !! THEY ARE EVERYONE OF US!!! For you see, we are the care takes of the future, so others may one day be able to fly amongst clear warm blue skies of cotton cloud dreams. Just the way life should be. The MHE / MO / HME RESEARCH being conducted today around the world, will open the WINDOW in the future and allow our children not only to FLY LIKE THE PURE WHITE DOVES THEY ARE, BUT SOAR LIKE EAGLES!!!! The MHE Research Foundation would like to THANK YOU for becoming one of our WINGS OF HOPE!!!! |
| 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.
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| Make a donation to help support the Forth International MHE / MO / HME Research Conference |
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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) |
| Announcement Third International MHE Research was held on Oct 29 - Nov 21, 2009 |
| Click on video to stop & restart, the video takes a few minutes to load |
|
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)
| HIGH IMPORTANCE Please register your contact information to receive the MHE Research Foundations "~ e ~ newsletter flash" |
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
| Alone we are Rare. Together we are Strong! Join the Movement Today! Click Here |
|
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New Publications
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.
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.
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| 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. |
| The MHE Research Foundation has stepped up to the plate and made the arrangements with Dr. Paley and his Institute to opens its doors to host the Annual Rare Bone Disease Patient Network (RBDPN) meeting to be held on Feb 26, 2010. Dr. Paley serves as a member of our foundations Scientific & Medical Advisory Board. We would like to thank him for his continuing support |
The Network will converge at PALLI bringing together the leaders of all the rare bone disease member organizations for this
important strategic strategy planning session. The Rare Bone Disease Patient Network is a coalition of rare bone disease
organizations, established under the auspices of the United States Bone and Joint Decade, with the mission to share
information, expertise and resources, in a collaborative effort to increase awareness, understanding, and research of rare bone
disorders. Organizations within the RBDPN are the following: Fibrous Dysplasia Foundation, International Fibrodysplasia
Ossificans Progressiva Association, International Osteopetrosis Association,Lymphangiomatosis & Gorham's Disease Alliance
(LGD Alliance), Melorheostosis Association, The MHE Research Foundation, Osteogenesis Imperfecta Foundation, Paget
Foundation For Paget's Disease of Bone and Related Disorders and the XLH Network.
important strategic strategy planning session. The Rare Bone Disease Patient Network is a coalition of rare bone disease
organizations, established under the auspices of the United States Bone and Joint Decade, with the mission to share
information, expertise and resources, in a collaborative effort to increase awareness, understanding, and research of rare bone
disorders. Organizations within the RBDPN are the following: Fibrous Dysplasia Foundation, International Fibrodysplasia
Ossificans Progressiva Association, International Osteopetrosis Association,Lymphangiomatosis & Gorham's Disease Alliance
(LGD Alliance), Melorheostosis Association, The MHE Research Foundation, Osteogenesis Imperfecta Foundation, Paget
Foundation For Paget's Disease of Bone and Related Disorders and the XLH Network.
Also 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 next AAOS conference to be held March 9-13, 2010. Sarah
will be accompanied by Charles Harles President of the Fibrous Dysplasia Foundation.
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 next AAOS conference to be held March 9-13, 2010. Sarah
will be accompanied by Charles Harles President of the Fibrous Dysplasia Foundation.
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 2/02/10, 4:0O 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
