There is NO treatment / cure for MHE now, but research is starting to make great progress into
understanding the etiology of MHE. Researchers are just at the point where together with the support
of this event and others, they can make major inroads toward better diagnosis, treatment
and a cure possible.
During this banquet
"The Humanitarian Scientific Achievement Award"
was presented to Maurizio Pacifici, Ph.D.
REACH Research Award" was presented Jacqueline T. Hecht, Ph.D.
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.
The MHE Research Foundation as we REACH  for the CURE !
Both Dr. Pacifici and Dr. Hecht are members of the MHE Research Foundations Scientific and Medical Advisory Board  and their
years of service are greatly appreciated by our foundation and by all who suffer the devastating affects of MHE. Dr. Pacifici is  
co-organizing Fourth
International MHE Research Conference, along with the MHE Research Foundation and will be held in
Philadelphia, Nov 1-4, 2012. Without the efforts of these two outstanding researchers, MHE research would not be where it is
*Research Banquet*
... Part of the
Magic of Giving!
...Part of
Finding the Cure!!!
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Maurizio Pacifici, PH.D. was contacted by our foundation in 2005, we sparked his interest and he attended the Second
International MHE Research Conference. During this conference he realized he could apply his extensive knowledge to the better
understanding and furthering the goal of discovering a cure for Multiple Hereditary Exostoses. Dr. Pacifici played a key role on
the advisory committee for the 2009 Third International MHE Research Conference at this conference he unveiled a new MHE
mouse model. This MHE mouse model is now being used to understand how Exostoses (tumors) develop in MHE patients and
being used in the development of the key factors necessary for the discovery and testing of possible treatments for MHE.  
Dr. Pacifici became Chairman of the MHE Research Foundations 18 member Scientific and Medical Advisory Board in 2010 and is
Co-Organizer of the Fourth International MHE Research Conference along with Sarah Ziegler to be held Nov 1-4, 2012. In 2010
to expand his research became Director of the Translational Research Program in Pediatric Orthopaedics at THE CHILDREN’S
HOSPITAL OF PHILADLEPHIA (CHOP). In May of this year Dr. Pacifici co-authored a research publication in the world renowned
Journal BONE. These finding were so impressive the cover was dedicated entirely to this. “Compound heterozygous loss of Ext1
and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bones”  

Dr. Pacifici is a world leader in biomedical research; his work focuses on mechanisms controlling skeletal development and
growth in fetal and postnatal life. Emphasis is on identification of molecular regulators acting at the nuclear level that direct
commitment, determination and differentiation of progenitor skeletal cells. The aim is to target those regulators in gene- and
drug-based therapies to repair and reconstruct skeletal tissues affected by pathologies, in congenital skeletal defects. Emphasis
is also on signaling diffusible factors that normally act within developing skeletal elements to coordinate growth and
morphogenesis. When these factors escape skeletal tissues and diffuse into adjacent non-skeletal tissues due to failure of
restraining topographical mechanisms, they can trigger pathologies, including Multiple Hereditary Exostoses and heterotopic
ossification. Experimental therapies are being tested to restore normal factor-restraining mechanisms and block or reverse
those pathologies.  

Dr. Pacifici received his Ph.D. in Developmental Biology from the University of Rome in 1974. He received a European Molecular
Biology Fellowship at the end of which he was appointed Assistant Professor at the University of Rome School of Medicine and
in 1999 to the present had been an external examiner of Ph.D. thesis for this University. He then joined the faculty at the
University of Pennsylvania first in the School of Medicine and subsequently in the School of Dental Medicine 1997 and was
appointed Professor. He joined the faculty of Thomas Jefferson University in 2004 as Professor and Director in the Department
of Orthopaedic Surgery until the relocation of his lab over to CHOP.  He is a member of Skeletal Biology Development and
Disease Study Section at the National Institutes of Health, his research has been funded continuously by the National Institutes
of Health for over 25 years. Dr. Pacifici has published over 150 peer reviewed Research Journal publications, 18 editorials and
book chapters and has given numerous invited lectures around the world many of these lectures on MHE that have been so
desperately needed to educate professionals and bring awareness to our cause. He has served and continues to serve on many
Research Societies Advisory Boards including The Orthopaedic Research Society, The American Society for Matrix Biology, and
Journal Editorial Boards including Matrix Biology, Cell Communication and Signaling and is a member of the Orthopaedic
Research Advisory Board for the Shriners Hospitals for Children.

Dr. Pacifici is married to Dr. Robin Wagner-Pacifici who is the Chairperson in the Department of Sociology at The New School in
NYC. They have three children: Adriano is a second year law school student, Laura is working as a paralegal in a Washington DC
firm, and Stefano is a second year college student at Tufts University. When not working, Dr. Pacifici enjoys playing tennis,
working-out, reading and having a great meal!
Maurizio Pacifici, Ph.D.
Director of the Translational Research Program in Pediatric Orthopaedics at
Jacqueline Hecht, Ph.D. is a board certified Medical Geneticist specializing in disorders related to bone growth.  She provides
diagnostic and genetic counseling to patients and families with a variety of skeletal disorders.  She became interested in Multiple
Hereditary Exostoses (MHE) during the 1980s and as such is one of only a handful of professionals who knew anything about
this condition. She directed her research towards locating the genes that caused MHE, eventually locating the EXT1 gene on
chromosome 8 and later, the EXT2 on chromosome 11.  In 1995, she published one of the first studies describing the natural
history of MHE as well as a publication describing the development of chondrosarcoma to MHE.  

In 1999, Sarah Ziegler contacted Dr. Hecht requesting her assistance with our organization’s efforts. Without hesitation, she
began working with us. Our first steps were to inform MHE families that tumor and blood samples were needed to expand her
research.  As our children had surgery, research sample collection boxes were sent to parents and given to Orthopedic
surgeons who would return the samples after informed consent.  In 2002, Dr. Hecht was instrumental in bringing about the
First International MHE Research Conference and published that heparan sulfate abnormalities were present in exostosis
growth plates, confirming that the mutations in EXT1 and EXT2 genes affect the production of proteins that require heparan
sulfate. Dr. Hecht also demonstrated that MHE is associated with aberrant chondrocyte proliferation and the development of
multiple bony bumps at the ends of all the long bones.

Dr. Hecht worked tirelessly with Sarah to take genetic testing of the EXT genes out of the research laboratories making it
accessible for clinical use.  Health care professionals can now readily order this testing for families.  In 2005, she co-organized
the Second International MHE Research Conference. In discussions with Dr. Hecht, we pointed out that pain is a huge issue for
MHE patients and was unrecognized and untreated. Together, we undertook a study to determine the extent and type of pain
in MHE and the results were published in the Journal of Pediatric Orthopaedics.  Dr. Hecht also wrote the chapter on the
genetics of MHE in the Connection Corner Guide book that appears on our website and is distributed to families and physicians.
Dr. Hecht has written more than 160 peer reviewed scientific publications, 14 of which have been on MHE.

Dr. Hecht obtained her M.S. in Human Genetics and Genetic Counseling at University of Colorado Medical Center Denver in
1976, and her Ph.D. in Epidemiology at the University of Texas School of Public Health in 1988. She is currently a Professor in
the Department of Pediatrics and in the Graduate School of Biomedical Sciences at The University of Texas Medical School.  She
is Director of the Pediatric Research Center and Vice Chair for Research in the Department of Pediatrics.  Dr. Hecht is a reviewer
for multiple medical journals including the American Journal of Medical Genetics, American Journal of Human Genetics, Journal of
Epidemiology and Journal of Orthopedic Research. She has authored/co-authored 22 book chapters.  She has served on
multiple study sections for the National Institute of Health including Orthopedics & Musculoskeletal Study Section.  Her research
focuses on understanding the underlying pathologic mechanisms that affect bone growth.  She has been invited to present her
research around the world at many Genetic/Scientific Research Society conferences.
Jacqueline T. Hecht, Ph.D.
Director at the Pediatric Research Center at The University
of Texas Medical School.  
To view FUNTASIA 2007 click here
To view FUNTASIA 2009 click here
The MHE Research Foundation would like to Thank all the companies and families for supporting this event.

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