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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. |
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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. |
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| HIGH IMPORTANCE Please register your contact information with MHE Research Foundations |
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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.
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| Make a donation to help support the Forth International MHE / MO / HME Research Conference |
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| CONNECTION CORNER MHE FAMILY SUPPORT SECTION VIEW CLICK HERE |
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nstitute.aspx
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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 © 2012 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 3/13/12, 12:0O 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/Initiative, (USBJD/I) & the USBJD/I Rare Bone Disease Patient Network |
The MHE Research Foundation is proud to be an affiliate of the Society For Glycobiology
| 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
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.
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.
| Sarah Ziegler Co-Chair of the United States Bone and Joint Decade/Initiative (USBJD) Rare Bone Disease Patient Network |
Our Foundations Vice President and National Director of Research Sarah Ziegler once again was granted an educational display
by the Pediatric Orthopaedic Society of North America (POSNA) at there annual conference held on May 11 – 14, 2011 in Montreal,
Quebec, Canada.
To view pictures and the video presentation from the May 4-7, 2010 POSNA conference held Waikoloa, Hawaii, Click Here.
Sarah accompanied by Joanne Joseph, Vice President The XLH Network, Inc (Genetic Hypophosphatemic Rickets)
by the Pediatric Orthopaedic Society of North America (POSNA) at there annual conference held on May 11 – 14, 2011 in Montreal,
Quebec, Canada.
To view pictures and the video presentation from the May 4-7, 2010 POSNA conference held Waikoloa, Hawaii, Click Here.
Sarah 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". |
| Dr. George H. Thompson, 2003 POSNA President, Dr. James Roach POSNA President, John P. Dormans 2009 POSNA President, Sarah Ziegler |
| Dr. Charles T. Price, Distinguished Achievement Award and 2005 POSNA President Sarah Ziegler |
| Dr. James Roach POSNA President, Sarah Ziegler |
| Dr. Leon Root Dr. John P. Dormans Dr. Richard Davidson Dr. James McCarthy Dr. James Roach, Dr. Harold JP van Bosse |
| 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 MHE Research Foundation would like to thank Adriano Sverko and his production company 'asvm productions"
for all their efforts as we work together on a documentary about MHE and rare diseases. We hope you enjoy the
trailer. As soon as our project moves closer to completion we will by posting more details, we wanted to give
everyone a quick peak!!!
for all their efforts as we work together on a documentary about MHE and rare diseases. We hope you enjoy the
trailer. As soon as our project moves closer to completion we will by posting more details, we wanted to give
everyone a quick peak!!!
561-594-5305
| Dr. Benjamin A. Alman |
| The 8 Annual International Pediatric Orthopaedic Symposium (IPOS) was held in Dec 7-10, 2011 presented by POSNA and AAOS This year Dr. Scott Kozin presented, Masters Technique: management of the MHE forearm and Dr. Dror Paley presented, Treating the MHE ankle deformities. The MHE Research Foundation also had an educational display during this conference. The MHE Research Foundation would like to express its gratitude to POSNA, AAOS, the leadership of these Societies and doctors Paley and Kozin whom serve on the Medical Advisory Board of our foundation for their support in the improvement of the clinical care MHE patients receive through all of the continuing educational efforts. |
| PRESS RELEASE RESEARCH & THE SANFORD-BURNHAM |
Autism-like socio-communicative deficits and stereotypies in mice lacking heparan sulfate.
Irie F, Badie-Mahdavi H, Yamaguchi Y.
Proc Natl Acad Sci U S A. 2012 Mar 12.
HSPG-Deficient Zebrafish Uncovers Dental Aspect of Multiple Osteochondromas.
Wiweger MI, Zhao Z, van Merkesteyn RJ, Roehl HH, Hogendoorn PC.
PLoS One. 2012;7(1):e29734. Epub 2012 Jan 11.
To read this full text publication Click here
Epiphyseal growth plate and secondary peripheral chondrosarcoma the neighbours matter.
J Pathol. 2012 Jan;226(2):219-28. doi: 10.1002/path.3003. Epub 2011 Nov 23.
de Andrea CE, Hogendoorn PC.
To read this full text publication Click here
Identification and functional characterization of the human EXT1 promoter region.
Jennes I, Zuntini M, Mees K, Palagani A, Pedrini E, De Cock G, Fransen E, Vanden Berghe W, Sangiorgi L, Wuyts W.
Gene. 2012 Jan 15;492(1):148-59. Epub 2011 Oct 19.
Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bones.
Zak BM, Schuksz M, Koyama E, Mundy C, Wells DE, Yamaguchi Y, Pacifici M, Esko JD.
Bone. 2011 May 1;48(5):979-87. Epub 2011 Feb 15.
To read Click Here
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families.
Jennes I, de Jong D, Mees K, Hogendoorn PC, Szuhai K, Wuyts W.
BMC Med Genet. 2011 Jun 26;12(1):85.
To read this full text publication Click here
Growth plate regulation and osteochondroma formation: insights from tracing proteoglycans in zebrafish models and human
cartilage.
de Andrea CE, Prins FA, Wiweger MI, Hogendoorn PC.
J Pathol. 2011 Jun;224(2):160-8. doi: 10.1002/path.2886.
Irie F, Badie-Mahdavi H, Yamaguchi Y.
Proc Natl Acad Sci U S A. 2012 Mar 12.
HSPG-Deficient Zebrafish Uncovers Dental Aspect of Multiple Osteochondromas.
Wiweger MI, Zhao Z, van Merkesteyn RJ, Roehl HH, Hogendoorn PC.
PLoS One. 2012;7(1):e29734. Epub 2012 Jan 11.
To read this full text publication Click here
Epiphyseal growth plate and secondary peripheral chondrosarcoma the neighbours matter.
J Pathol. 2012 Jan;226(2):219-28. doi: 10.1002/path.3003. Epub 2011 Nov 23.
de Andrea CE, Hogendoorn PC.
To read this full text publication Click here
Identification and functional characterization of the human EXT1 promoter region.
Jennes I, Zuntini M, Mees K, Palagani A, Pedrini E, De Cock G, Fransen E, Vanden Berghe W, Sangiorgi L, Wuyts W.
Gene. 2012 Jan 15;492(1):148-59. Epub 2011 Oct 19.
Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bones.
Zak BM, Schuksz M, Koyama E, Mundy C, Wells DE, Yamaguchi Y, Pacifici M, Esko JD.
Bone. 2011 May 1;48(5):979-87. Epub 2011 Feb 15.
To read Click Here
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families.
Jennes I, de Jong D, Mees K, Hogendoorn PC, Szuhai K, Wuyts W.
BMC Med Genet. 2011 Jun 26;12(1):85.
To read this full text publication Click here
Growth plate regulation and osteochondroma formation: insights from tracing proteoglycans in zebrafish models and human
cartilage.
de Andrea CE, Prins FA, Wiweger MI, Hogendoorn PC.
J Pathol. 2011 Jun;224(2):160-8. doi: 10.1002/path.2886.
New Publications
Glycobiology and the Growth Plate: Current Concepts in Multiple Hereditary Exostoses
Jones, Kevin B.
Journal of Pediatric Orthopaedics. 31(5):577-586, July/August 2011.
Publications from the press release above
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.
J Biol Chem. 2010 Jun 18;285(25):19227-34. Epub 2010 Apr 19.
To read this full text publication Click Here
A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.
Matsumoto K, Irie F, Mackem S, Yamaguchi Y.
Proc Natl Acad Sci U S A. 2010 Jun 15;107(24):10932-7. Epub 2010 Jun 1.
Roles of heparan sulfate in mammalian brain development current views based on the findings from Ext1 conditional knockout studies.
Yamaguchi Y, Inatani M, Matsumoto Y, Ogawa J, Irie F.
Prog Mol Biol Transl Sci. 2010;93:133-52.
Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple
osteochondromas patients.
Szuhai K, Jennes I, de Jong D, Bovée JV, Wiweger M, Wuyts W, Hogendoorn PC.
Hum Mutat. 2010 Dec 7 (full text link)
Multiple osteochondromas in the archaeological record: a global review
E.M. Murphy, C.J. McKenzie
Journal of Archaeological Science 37 (2010) 2255e2264
To read this full text publication Click Here
No Haploinsufficiency but Loss of Heterozygosity for EXT in Multiple Osteochondromas
Reijnders CM, Waaijer CJ, Hamilton A, Buddingh EP, Dijkstra SP, Ham J, Bakker E, Szuhai K, Karperien M, Hogendoorn PC, Stringer SE, Bovée JV.
Am J Pathol. 2010 Sep 2. PMID: 20813973
Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation.
Zuntini M, Pedrini E, Parra A, Sgariglia F, Gentile FV, Pandolfi M, Alberghini M, Sangiorgi L.
Oncogene. 2010 Jul 1;29(26):3827-34.
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.
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 2010 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
To read this Full Text publication Click here
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.
Multiple Hereditary Exostosis and Hedgehog Signaling: Implications for Novel Therapies
Benjamin A. Alman
The Journal of Bone and Joint Surgery. Am., Jul 2009; 91: 63 - 67.
Jones, Kevin B.
Journal of Pediatric Orthopaedics. 31(5):577-586, July/August 2011.
Publications from the press release above
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.
J Biol Chem. 2010 Jun 18;285(25):19227-34. Epub 2010 Apr 19.
To read this full text publication Click Here
A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.
Matsumoto K, Irie F, Mackem S, Yamaguchi Y.
Proc Natl Acad Sci U S A. 2010 Jun 15;107(24):10932-7. Epub 2010 Jun 1.
Roles of heparan sulfate in mammalian brain development current views based on the findings from Ext1 conditional knockout studies.
Yamaguchi Y, Inatani M, Matsumoto Y, Ogawa J, Irie F.
Prog Mol Biol Transl Sci. 2010;93:133-52.
Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple
osteochondromas patients.
Szuhai K, Jennes I, de Jong D, Bovée JV, Wiweger M, Wuyts W, Hogendoorn PC.
Hum Mutat. 2010 Dec 7 (full text link)
Multiple osteochondromas in the archaeological record: a global review
E.M. Murphy, C.J. McKenzie
Journal of Archaeological Science 37 (2010) 2255e2264
To read this full text publication Click Here
No Haploinsufficiency but Loss of Heterozygosity for EXT in Multiple Osteochondromas
Reijnders CM, Waaijer CJ, Hamilton A, Buddingh EP, Dijkstra SP, Ham J, Bakker E, Szuhai K, Karperien M, Hogendoorn PC, Stringer SE, Bovée JV.
Am J Pathol. 2010 Sep 2. PMID: 20813973
Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation.
Zuntini M, Pedrini E, Parra A, Sgariglia F, Gentile FV, Pandolfi M, Alberghini M, Sangiorgi L.
Oncogene. 2010 Jul 1;29(26):3827-34.
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.
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 2010 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
To read this Full Text publication Click here
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.
Multiple Hereditary Exostosis and Hedgehog Signaling: Implications for Novel Therapies
Benjamin A. Alman
The Journal of Bone and Joint Surgery. Am., Jul 2009; 91: 63 - 67.
| The 3rd Annual SBMRI Rare Disease Symposium held Feb 24, 2011. Once again supported by our foundation, to view the Dr. Yu Yamaguchi's video presentation and all the others during this symposiun Click Here |
| The MHE Research Foundation Partnering in Advocacy and Education with the Musculoskeletal Tumor Society (MSTS) and the Connective Tissue Oncology Society (CTOS) during the Oct 26-29, 2011 joint conference held in Chicago Our Foundation would like to express our thanks to MSTS and CTOS for all of there continuing support of our efforts |
| Dr. Richard Lackman 2011 President of MSTS and long time supporter. Dr. Lackman is Porfessor and Director, Sarcoma Center of Excellence at the Abramson Cancer Center of the University of Pennsylvania |
| Dr. Lor Randal 2011 President of CTOS and member of our Foundations advisory board along with Sarah Ziegler and Dr. Kevin Jones. Dr. Randal is Director of Huntsman Cancer Institutes' Sarcoma Service, where Dr. Jones is also located and conducting MHE Research |
| Maurizio Pacifici, Ph.D. Director of the Translational Research Program in Pediatric Orthopaedics at The Children's Hospital of Philadelphia Has been awarded the 2011 MHE Research Foundation "The Humanitarian Scientific Achievement Award" Jacqueline T. Hecht, Ph.D. Director of Pediatric Research Center at The University of Texas Medical School Has been awarded the 2011 MHE Research Foundation "The REACH Rsearch Award" Both Researchers will also be presented the following awards by members of the U. S. Congress ~ N. Y. State Senate The Borough of Brooklyn, City of New York. CITATIONS PROCLAMATIONS CERTIFICATES OF RECOGNITION These awards were presented during FUNTASIA Held on Sunday Sept 25, 2011 TO VIEW VIDEO AND READ MORE ABOUT THIS EVENT CLICK HERE |
| Third International MHE Research was held on Oct 29 - Nov 21, 2009 |
|
Sarah Ziegler and
Dr. John Reed, CEO of the Sanford-Burnham
Dr. John Reed, CEO of the Sanford-Burnham
| PRESS RELEASE RESEARCH & THE SANFORD-BURNHAM MARCH 12, 2012 |
Yu Yamaguchi's research on "MHE" reveals new insights into autism, these findings also provide new
insights for the general autistic population Click here to read the extensive press release
insights for the general autistic population Click here to read the extensive press release