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