Dr. Pacifici serves on the Scientific and Medical Advisory Board of the MHE Research Foundation

Research authored by Dr. Pacifici
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Wings of HOPE as we REACH
for the CURE to
Multiple Hereditary Exostoses Syndrome
Multiple Osteochondroma Syndrome
Jeff Esko, Ph.D, Hundson Freeze, PhD,
Maurizio Pacifici, Ph.D
Dr. Maurizio Pacifici, 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
The Children's Hospital of Philadelphia

Has been awarded the 2011 MHE Research Foundation
"The Humanitarian Scientific Achievement Award"

He 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.

These awards will be presented during the
FUNTASIA Research Banquet to be held
Sunday Sept, 25,2011

Maurizio Pacifici, Ph.D.
Professor and Director of the Translational Research Program in Pediatric Orthopaedics Perelman
School of Medicine website page and  Director of Research, Department of Orthopedic Surgery The
Children's Hospital of Philadelphia

The mechanisms by which exostoses form along the growth plates of long bones and other skeletal elements remain largely
unclear. Since the majority of HME patients carry loss-of-function mutations in Ext1 or Ext2, other groups previously created
heterozygous null Ext1 (Ext1+/-) mice that were expected to display traits of HME patients.

Surprisingly, the mutant mice did not completely mimic the human phenotype. Exostosis-like masses were observed in 10-20%
of the mice only, and the ectopic masses were rather small and atypical in organization and were limited to the ribs. Based on
immunohistochemical evidence that human exostoses contain far less heparan sulfate (HS) than would be expected of a
heterozygous Ext mutation (about 50% of control levels), we reasoned that mice producing lower amounts of HS chains may be
able to mimic the human condition more closely. Thus, we created and examined double heterozygous Ext1+/-/ Ext2+/- mice.
Indeed, the double hets mice did display stereotypic exostoses along their long bones that were characterized by a distal
cartilaginous cap followed by a pseudo growth plate and were oriented at a 90 degree angle with respect to the long axis of the
long bones.

We even observed osteochondromas masses at other locations. The data strongly indicate that exostosis formation and
organization are intimately sensitive to, and dependent on, HS production and/or content and that frequency of exostosis
formation can be increased by progressive decreases in Ext expression. Data from an additional mouse model of HME and data
from mesenchymal cell cultures that provide important insights into the mechanisms of exostosis induction and formation. Oub
labs on going work is focused on developing therapeutic approaches for treating the disease.

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