INTRODUCTION
The heritable disorders of connective tissue have proven to be very heterogeneous and problems have arisen concerning syndromic boundaries, nomenclature, and classification. In an attempt to resolve these dilemas, a group of experts participated in a Workshop held during the 7th International Congress of Human Genetics, Berlin, in September, 1986.
The program for this workshop had been drawn up at a planning meeting held in 1985 at the Ciba Foundation, London (Beighton, Hollister, Pope, Pyeritz).
International
Nosology of Heritable Disorders of Connective Tissue
Berlin,
1986
B. Beighton,
A. de Peepe, D. Danks, G. Finidori, T. Gedde-Dahl,
R. Goodman,
J.G. Hall, D.W.
Hollister, W. Horton, V.A. McKusick, J.M. Opitz, F.M. Pope,
R.E. Pyeritz, D.L. Rimoin, D.
Silence, J.W. Spranger, E. Thompson, P. Tsipouras, D. Viljoen,
I. Winship, and I. Young
Cape Town, South Africa, (P.B., D.V., I.W.); Ghent, Belgium (A. de P.);
Melbourne, Australia (D.D.);
Paris France (G.F.); Oslo, Norway (T. G-D.); Tel-Hashomer, Israel (R.G.);
Vancouver, Canada
(J.G.H.); Portland, Oregon, U.S.A. (D.W.H.); Houston, Texas, U.S.A. (W.H.);
Baltimore, Maryland,
U.S.A. (V.A. McK., R.E.P.); Helena, Montana, U.S.A. (J.M.O.);
London, U.K. (F.M.P., E.T.); Torrance,
California, U.S.A. (D.L.R.); Sydney, Australia (D.S.); Mainz,
West Germany (J.W.S.); Farmington,
Connecticut, U.S.A. (P.T.); Leicester, U.K. (I.Y)
CHDCT
Fact Sheet
January 23, 2010
Mission:
The mission of the Coalition of Heritable Disorders of Connective Tissue
(CHDCT) is to bring about greater awareness and understanding of heritable
disorders of connective tissue in medical professions and in the public
at large, to encourage teaching in the schools to train health practitioners
to help identify, diagnose, and treat various heritable connective tissue
disorders, and to foster research. Member organizations of the CHDCT believe
that research on one disorder can be helpful to many.
Founding:
In 1989, Founding member organizations of the newly organized Coalition
of Heritable Disorders of Connective Tissue (CHDCT) gathered at a meeting
held at the National Institute of Arthritis, Musculoskeletal and Skin
Diseases (NIAMS), under Dr. Lawrence Schulman, Director of NIAMS, to formally
establish the CHDCT. One of the first goals was to become incorporated.
The second goal was (with NIAMS support) to hold a heritable disorders
of connective tissue workshop. This 1990 symposium, the first in ten years,
sponsored by the NIH/NIAMS, allowed basic scientists and clinicians working
on these disorders to discuss the state of the art of research and treatment
as well as to determine which areas best benefited by the advanced technology
of the last decade.
Advantage
of multidisciplinary studies:
The cross fertilization of research on the difference heritable disorders
of connective tissue (HDCT) serves to avoid duplication of effort, serves
to ascertain positive research directions, and, facilitates rapid research
exchange and findings, and maximizes funding resources. For each disorder,
common investigative approaches and technologies have emerged. Outstanding
clinical studies of families have provided samples necessary to hunt for
mutant genes. NIH-sponsored registries of clinical samples proved helpful.
The accumulation of polymorphic markers and development of mutation screening
technologies allowed the identification of numerous disease genes. As
more and more mutations were found, genotype-phenotype correlations were
pursued, and better methods for molecular diagnostics were developed.
Investigations of common disease for underlying genetic contributions
were of interest. Multidisciplinary studies of disease mechanisms were
recommended and performed, including basic structure/function studies,
developmental studies, and protein interaction studies. Production of
mouse models for studies of disease pathogenesis and for studies of potential
therapies were encouraged.
By focusing on multidisciplinary approaches and common themes important
in matrix biology, the goal is to stimulate new collaborations between
researchers interested in different diseases and more rapid progress in
this area. By focusing on pathogenesis of connective tissue disease, the
goal is to gain that additional knowledge, beyond the first step of identification
of disease genes, required for the development of new therapies. *
* Summary Report, 3rd Workshop on Heritable Disorders of Connective Tissue.
(2000)
Encyclopedias
Royce, Peter M. and Beat Steinmann. Connective Tissue and Its Heritable
Disorders: Molecular, Genetic, and Medical Aspects. 2002.
McKusick, Victor A., Heritable Disorders of Connective Tissue,
1956 - 1990
Beighton, Peter. McKusick's Heritable Disorders of Connective Tissue,
5th Edition. Mosby, 1992
Selected
Monographs
Heritable Disorders of Connective tissue: Symposium Proceedings
by American Academy of Orthopaedic Surgeons, (AAOS), November 1982.
Peltonen, L. European Research Laboratories for Heritable Connective Tissue Disorders, Including Those Offering Diagnostic Services. 1991.
"NMF Helps Establish New Coalition," Connective Issues, (Vol. 8, No. 1, Winter, 1989)
"Questions
& Answers about…Heritable Disorders of Connective Tissue,"
NIH Publication No. 07 - 4790, July 2001, Revised August 2007.
(http://www.niams.nih.gov/Health_Info/Connective_Tissue/default.asp)
Nosology
1986: "International Nosology of Heritable Disorders of Connective
Tissue. Berlin, 1986." Beighton, P, de Paepe A. Danks D, Finidori
G, Gedee-Dahl T, Goodman R, Hall JC, Hollister DW, Horton W, McKusicak
VA, Opitz JM, Pope FM, Pyeritz, RE, Rimoin DI, Sillence D, Spranger JW,
Thompson E, Tsipouras, P, Viljoen D, Winship I, Young I, AM J Med Genet,
1988, Volume 29 Issue 3, Pages:581-594.
Conferences
1990, April. Symposium on Heritable Disorders of Connective
Tissue, co-sponsored by NIAMS, NICHHD, and the Coalition for Heritable
Disorders of Connective Tissue (CHDCT). Organizing Committee: Drs. Peter
Byers, Reed Pyeritz and Jouni Uitto. 25 discussants and 40 guest participated.
Held at the National Institute of Health (NIH). Proceedings published:
"Research Perspectives in Heritable Disorders of Connective Tissue."
Drs. Peter Byers, Reed Pyeritz, and Jouni Uitto. Matrix 12:333-342.1992
1995, June.
Symposium on Heritable Disorders of Connective Tissue, funded by
NIAMS, National Institute of Child Health and Human Development and the
Office of Rare Disease Research and co-sponsored Coalition for Heritable
Disorders of Connective Tissue (CHCDT). Organizing Committee: Drs. Lynn
Sakai, Bob Burgeson, Bjorn Olsen, and David Rowe. 27 discussants participated.
Guests also attended. Held at the National Institute of Health (NIH).
Focused on current knowledge and research directions in heritable disorders
of connective tissue. Proceedings published: " Current Knowledge
and Research Directions in Heritable Disorders of Connective Tissue".
(Meeting Summary) Drs.Lynn Sakai, Bob Burgeson, Bjorn Olsen, and David
Rowe. Matrix Biology: 15:211-229, 1996.
2000, Nov 16. Workshop on 3rd Meeting on Heritable Disorders
of Connective Tissue, sponsored by the National Institute of Arthritis
and Musculoskeletal and Skin Diseases (NIAMS), NIH Office of Rare Diseases,
Foundation for Basic Cutaneous Research, the March of Dimes, and the Coalition
of Heritable Disorders of Connective Tissue in Bethesda, MD. Organizing
Committee: Drs. Lynn Y. Sakai, Peter H. Byers, and Francesco Ramirez.
29 discussants and 80 guests attended, including scientists, NIH staff,
representatives from the Coalition for Heritable Disorders of Connective
Tissue. Proceedings published: Matrix Biology, Vol. 21, No.1, 2002,
Pages 7-13. (Meeting Summary) Drs. Lynn Y. Sakai, Peter H. Byers, Francesco
Ramirez.
Workshops
"The Role of Patient Advisory Organizations in Genetic Research." Sharon Terry, (PXE & CHDCT). In Special Interest Session: Heritable Disease of Elastic Structure, "The Paradigms of Pseudoxanthoma Elasticum (PXE) and Cutis Laxa (CL)," American Society for Matrix Biology Conference, San Diego, CA. December 7, 2008
"Maximizing Effectiveness of Voluntary Health Organizations through Coalitions," Coordinators, Priscilla Ciccariello, NMF Chair emeritus & HellerAn Shapiro, Executive Director, OI Foundation, for the Coalition of Heritable Disorders of Connective Tissue, (CHDCT). Held at the 20th Genetic Alliance Annual Conference in Bethesda, MD, July 28-30, 2006.
6th Pan Pacific Connective Tissue Societies Symposium, "Hawaii. Session on Heritable Disorders of Connective Tissue," Co-Chaired by Peter Byers and Lynn Sakai. Abstracts published in the journal, Connective Tissue Research. 11/30 - 12/5, 2005.
"From Discovery to Application: Pondering the Interface between Research & Clinical Care." Speaker, Sharon Terry, PXE & Coalition for Heritable Disorders of Connective Tissue (CHDCT). In Special Interest Sessions, American Society for Matrix Biology Conference, San Diego, CA. November 6, 2002.
NIH Support
National Institute of Arthritis, Musculoskeletal and Skin Diseases (NIAMS)
National Institute of Dental, (DIDDK)
National Institute of Heart, Blood, and Lung (NIHBL)
National Institute of Genetic Diseases (NIGD)
National Office of Rare Diseases
Congressional
Testimony
Testimony submitted by the Coalition for Heritable Disorders of Connective
Tissue (CHDCT) before the Subcommittee on Appropriations for Health &
Human Services - testified orally and submitted HDCT Report Language:
House: Oral Testimony: 1994; 1995; 1997; 1998; 1999; 2000.
House: Report Language: 1994; 1995; 1995; 1998; 1999; 2001; 2001; 2002;
2003; 2004; 2005; 2006; 2007; 2008.
Organization
Liaisons:
American Society of Matrix Biology (ASMB)
Genetic Alliance
European Conference of Rare Disorders (Biennial)
National Organization of Rare Disorders (NORD)
Web site
January 31, 2002-The Coalition for Heritable Disorders of Connective Tissue
(CHDCT) launched its web site-www.chdct.org
- in order to serve people with these complex disorders around the world.
The heritable disorders of connective tissue are potentially life--threatening
disorders that affect several millions of people regardless of sex, race
and ethnicity.
"The CHDCT web site provides a much needed service to the community
of heritable disorders of connective tissue. It provides links to organizational
web sites that can provide specific information regarding these complex,
multi-system disorders. Through these links to the various member organizations,
visitors to the web site can access resources and publications that can
help them manage their disorders. It also provides researches with information
regarding research and research resources, " said, Sharon Terry,
Co-President, CHDCT, and Executive Director of PXE International, Inc.,
a member organization of the Coalition.
The Coalition for Heritable Disorders of Connective Tissue was founded
in 1988 and represents organizational constituents of various heritable
disorders of connective tissue. The goals of the CHDCT are to bring about
greater awareness and understanding of these complex disorders to the
medical professions and to the public at large, to encourage HDCT research
meetings and symposia, and to foster research. Members of CHDCT believe
that research on one disorder can be helpful to many.
There are over 200 known conditions currently categorized as heritable
disorders of connective tissue. Although each disorder, such as those
described on the web site, has a common denominator - connective tissue
- many of them as yet have no known cause or effective treatments. Yet,
often, an accurate diagnosis and comprehensive care can mean the difference
between life and death.
For more information, please visit the CHDCT web site at: www.chdct.org.
Sharon Terry, MA, Co-President,
Coalition
For Heritable Disorders Of Connective Tissue
4301 Connecticut Avenue, NW, Suite 404, Washington DC 20008
Voice: 202-362-9599
Fax: 202-966-8553
E-mail: chdct@pxe.org
Priscilla
Ciccariello, Co-President
cilla71@aol.com
Website: http://www.chdct.org
Copyright 2010 © Coalition For Heritable Disorders Of Connective
Tissue Revised March 2010