Genetic Disorders

Resources in this category:

American Society for Histocompatibility and Immunogenetics
http://www.ashi-hla.org/

"The American Society for Histocompatibility and Immunogenetics is dedicated to optimizing patient outcome through research, education and the advancement of immunogenetic testing."

Association for Children with Down Syndrome
http://www.acds.org/

"The Association for Children with Down Syndrome offers educational, therapeutic, behavioral and health-related services to persons with Down Syndrome and their families. Services include pre- and post-natal emotional support for new parents. Social services include, parent education, a community education outreach program and parent advocacy. The early intervention program is designed to optimize each child's ability to become a functioning member of society." ACDS is a non-profit organization and is affiliated with many of the official American Down Syndrome organizations. This is a very good Web resource with many links in the United States as well as more than 60 links all over the world including access to the Down Syndrome listserv and newsgroup. The Information is available in three languages English, German and French.

CDGS Family Network, Inc.
http://www.cdgs.com/

"The CDGS Family Network, Inc. is a non-profit international organization founded by parents seeking information and support for a Carbohydrate-Deficient Glycoprotein Syndrome. We exchange information with families and physicians, locate new families and raise awareness among the medical community." This site contains the CDG Parent Forum, articles on symptoms, diagnosis and treatment of CDG, the latest reserach findings, a glossary of terms, and links to related sites.

Cystic Fibrosis Foundation
http://www.cff.org/

"The Cystic Fibrosis Foundation was established in 1955 to assure the development of the means to cure and control cystic fibrosis and to improve the quality of life for those with the disease." The website "includes updates on CF research and clinical trials, public policy issues, ways to get involved in fund-raising events, CF Services, Inc. (CF Pharmacy), and general information."

FRAXA Research Foundation
http://www.FRAXA.org/

The FRAXA Research Foundation is a national, non-profit organization run by parents and medical professionals dedicated to the research of Fragile X Syndrome, the #1 inherited cause of mental retardation. The website contains information on the cause, symptoms and treatments for Fragile X Syndrome, research funded by FRAXA, excerpts from FRAXA's newsletter and links to related sites.

HHT Foundation International, Inc
http://www.hht.org/

A non-profit organization dedicated to the support of persons with HHT (Hereditary Hemorrhagic Telangiectasia), a rare genetic disorder that affects blood vessels. This website contains a description of symptoms and treatments of HHT, a list of diseases HHT can masquerade as, a database of HHT information, information on conferences and seminars and links to related sites.

Huntington's Disease Society of America
http://www.hdsa.org/site/PageServer

"The only national voluntary health agency in the United States dedicated to finding a cure for Huntington's Disease (HD) through research and improving the lives of people with (HD) and their families. Its goals are to identify and educate HD families, to educate the public and health professionals; operate a patient services program; and promote and support basic and clinical research on the disease. Patient services include a national hotline, information and referral, education and advocacy services." HDSA publishes pamphlets, research reprints as well as a newsletter. In addition, HDSA provides access to dozens of sites on the World Wide Web of HD information and the number of sites continues to grow. Many of them are linked to national and international HD sites.

International Society of Nurses in Genetics
http://www.globalreferrals.com/

ISONG is a "nursing specialty organization dedicated to fostering the scientific and professional growth of nurses in human genetics". Information is provided on clinical practices, nursing research other resources in human genetics .

Klinefelter Syndrome and Associates
http://www.genetic.org/

Klinefelter Syndrome and Associates is a non-profit support organization for the genetic condition Klinefelter Syndrome, a chromosomal variation found in men. This site contains issues of "The Even Exchange" newsletter, current research projects, support groups, resource list and links to related sites.

The MAGIC Foundation
http://www.magicfoundation.org/www

The MAGIC Foundation is a national nonprofit organization dedicated to help children whose physical growth is affected by a medical problem. The main objectives of MAGIC are to assist the families of afflicted children and to create public education in the area of children's growth. This site provides information on Precocious Puberty, Congenital Adrenal Hyperplasia, McCune Albright Syndrome, Growth Hormone Deficiency, Turner's Syndrome, and Russell-Silver Syndrome. The Magic Foundation provides educational tools, newsletter, support groups, pen pals, parent help line and public awareness programs. The site also contains links to organizations, hospitals, medical specialists and resources for financial aid.

National Down Syndrome Society
http://www.ndss.org/

"The National Down Syndrome Society was established in 1979 to increase public awareness about Down syndrome; to assist families in addressing the needs of children born with this genetic condition; and to sponsor and encourage scientific research. Today, NDSS supports young researchers seeking the causes of, and answers to, many of the medical, genetic, behavioral and learning problems associated with Down syndrome; sponsors internationally renowned scientific symposia; advocates on behalf of families and individuals affected by this condition; provides information and referral services through its toll-free number; and develops educational materials, many of which are distributed free of charge."

National Marfan Foundation
http://www.marfan.org/nmf/index.jsp

The National Marfan Foundation (NMF) is a non-profit organization dedicated to providing resources for medical information and patient support and encouraging research of Marfan syndrome, a genetic disorder of the connective tissue. This website contains a list of NMF publications, support and contacts for patients and their families, the latest research findings, on-line edition of the NMF newsletter "Connective Issues", and links to other related sites.

National Organization for Albinism and Hypopigmentation
http://www.albinism.org/

"NOAH is a volunteer organization for persons and families involved with the condition of albinism. It does not diagnose or treat, or provide genetic counseling. It is involved in self-help, while trying to promote research and education." This site contains educational bulletins on different forms of albinism, a listing of national events and a webboard for posting questions.

National Organization for Rare Disorders, Inc.
http://www.rarediseases.org/

The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. A rare or "orphan" disease affects fewer than 200,000 people in the United States. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service. This very informative site includes a searchable database of information about diseases, the organization, and drugs. There also links to the organization's newsletters and calendar of events.

National Society of Genetics Counselors
http://www.nsgc.org/

This organization is "the leading voice, authority and advocate forthe genetic counseling profession" and "will promote the genetic counseling profession as a recognized and integral part of health care delivery, education, research and public policy."

This site has information about upcoming meetings, publications, and joining the society and special interest groups. There is an extensive section about careers in genetic counseling and educational opportunities.

Sickle Cell Disease Association of America
http://www.sicklecelldisease.org/

SCDAA assists the public with advocacy, education and other initiatives to promote awareness about Sickle Cell Disease and provide support for patients. The website has information on resources, affiliate programs, membership, support groups, and a chat room.

VHL Family Alliance
http://www.vhl.org/

The VHL Family Alliance provides information for families and physicians about Von Hippel-Lindau Disease (VHL), a genetic condition involving the abnormal growth of blood vessels. This site contains a listing of national and international support groups, informational handbook about VHL, issues of the VHL Family Forum Newsletter, and links to other VHL sites.

World Federation of Hemophilia
http://www.wfh.org/index.asp?lang=EN

WFH is "an international not-for-profit organization dedicated to introducing, improving and maintaining care for persons with hemophilia and related disorder by using the medical and lay expertise of committed volunteers to help member organisations, healthcare providers and governments to deliver quality care." The site has information on hemophilia by topics, online literature, membership information, and news on research.

X-Linked Myotubular Myopathy Resource Group
http://www.mtmrg.org/

The X-Linked Myotubular Myopathy Resource Group is dedicated to providing information for parents and doctors about myotubular myopathy, a rare disorder causing low muscle tone and diminished respiratory capacity. This website provides information on Myotubular Myopath, the latest research findings, on-line copies of their newsletter, support group for parents and links to other relevant sites.