Human Genetics Principles
A concise outline of basic human genetics principles written by James Weber, Ph.D. This site won the Star Award from the Awesome Library of Educational Web Sites in 2004. Less than 2.5% of the Awesome Library's resources have a star rating.
American College of Medical Genetics
The ACMG provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic diseases.
Angioma Alliance is a non-profit international voluntary health organization created by people affected by cavernous angioma (cerebral cavernous malformations). Their mission is to improve the quality of life for those affected by cerebral cavernous malformations through education, support, and promotion of research.
Association for Glycogen Storage Disease
This website provides basic information about the glycogen storage diseases. The information is intended to be of use to people affected by one of the glycogen storage diseases, their families, and other interested parties.
Canadian Association of Genetic Counsellors
'The mission of the Canadian Association of Genetic Counsellors is to promote high standards of practice, encourage professional growth and increase public awareness of the genetic counselling profession in Canada.'
Canadian College of Medical Geneticists
'CCMG is a national Canadian organization that serves its members, governments and the public by: certifying individuals who provide medical genetics services, establishing the professional and ethical standards of medical genetics services, establishing standards of medical genetics training, providing professional and public education, and informing public policy.'
Centers for Disease Control and Prevention - Office of Genetics and Disease Prevention
The mission of the Office of Genetics and Disease Prevention is to integrate advances in human genetics into public health research, policy, and programs.
The CFC International is a source of information, formed to raise awareness and educate the public as well as families about Cardio-Facio-Cutaneous Syndrome. Here you will get a closer look of who we are, what we do, and how you can contact us for more information or to find out how you can help support our efforts.
Cure CMD's mission is to bring research, treatments and in the future, a cure for Congenital Muscular Dystrophies. Cure CMD will achieve this mission by working globally together with dedicated parent, government and research advocates. By focusing on this mission, Cure CMD will find and fund high potential research and clinical trials. Success will be determined by clinical applications that improve the lives of those afflicted with CMD's.
Division of Extramural Research -- NHGRI
The National Human Genome Research Institute (NHGRI) website provides detailed information on how the Human Genome Project (HGP) was initiated and how it is progressing, who is involved and opportunities for research funding. This site also contains links to other HGP related publications and information sources.
DNA Learning Center - Cold Spring Harbor Laboratory
The source for timely information about genes in education.
This site is a genetic testing resource funded by the National Library of Medicine of the NIH and Maternal & Child Health Bureau of the HRSA.
Founded in 1986 as the Alliance for Genetic Support Groups, Genetic Alliance has become the world's leading nonprofit health advocacy organization committed to transforming health through genetics. Our open network connects members of parent and family groups, community organizations, disease-specific advocacy organizations, professional societies, educational institutions, corporations, and government agencies to create novel partnerships. We actively engage in improving access to information for individuals, families and communities, while supporting the translation of research into services.
Gene Table of Neuromuscular Disorders
The online gene table is neither a comprehensive encyclopedia where you would find anything you wanted to know about your favorite disease, nor a tool to obtain a synthetic synopsis of a specific gene or disease. On the other hand, the curators are not responsible for the information provided by the linked databases.
Genetics 101 for Health Professionals
The National Human Genome Research Institute web site - The resources in this section provide basic information about genetics and genomics in clear language and provide links to online resources.
Genetics Home Reference
The National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes responsible for those conditions.
Human Genome Variation Society
The Society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. Promote collection, documentation and free distribution of genomic variation information and associated clinical variations. Endeavor to foster the development of the necessary methodology and informatics.
Learn Genetics - Genetic Science Learning Center
To address a need for genomic literacy, the University of Utah has created this site, which provides educational materials that currently cover 15 topic areas ranging from DNA to epigenetics.
Leiden Muscular Dystrophy
These internet pages are specifically designed for scientists performing research and/or diagnosis in Duchenne and Duchenne-like muscular dystrophies (i.e. Duchenne, Becker, Limb-Girdle).
Lymphatic Research Foundation
The Lymphatic Research Foundation is a 501(c)(3) not-for profit organization whose mission is to advance research of the lymphatic system and to find the cause of and cure for lymphatic diseases, lymphedema, and related disorders.
Malignant Hyperthermia Association of the United States
This site is dedicated to reducing morbidity and mortality of Malignant Hyperthermia by:
- Improving medical care related to MH
- Providing support information for patients and
- Improving the scientific understanding and research related to MH and other kinds of heat-related syndromes.
National Society of Genetic Counselors
The Society's Vision: to be the leading voice, authority and advocate for the genetic counseling profession. The Society's Mission: The National Society of Genetic Counselors advances the various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services.
Nemaline Myopathy Support Group
This website is for anyone seeking information about the rare genetic disorder nemaline myopathy. If you have NM, or you are a parent, guardian, professional or friend who cares for someone with it, then there are new friends out there who wish to hear from you. Learn from those who know the game.
Office of Rare Diseases
This site provides information about ORD-sponsored biomedical research, scientific conferences, rare and genetic diseases in English and Spanish, and a portal to information on major topics of interest in the rare diseases community.
Online Genetics Education Resources
Information available on the Web about genomics, health and patient support organizations and resources.
At Orpha.Net, you can find out about hundreds of disorders affecting no more than one person out of 2000. Researchers can search for information on a particular disease and pull up a description of the symptoms and underlying cause. The entries also record orphan drugs, treatments for rare diseases that are unprofitable to manufacture, and link to research projects and clinical trials around the world.
Progeria Research Foundation
The mission of The Progeria Research Foundation is to find the cure and effective treatment for Progeria and its aging related disorders. It is the vision of The Progeria Research Foundation to be the driving force worldwide to:
- Discover the cure
- Develop treatment
- Provide information and guidance
- Be a valuable resource for Progeria families
It is the mission of PXE International to initiate, fund and conduct research; provide support for individuals and families affected by pseudoxanthoma elasticum; and provide resources for healthcare professionals.
The CDG Family Network
Founded in 1996, The CDG Family Network is a non-profit 501(c)(3) organization founded by parents seeking information and support for a group of disorders known as Congenital Disorders of Glycosylation. We exchange information with families and physicians, locate new families and raise awareness among the medical community. Our organization fosters communication among families. We accomplish this task through a variety of ways that include our newsletter, internet page, family conferences, parent contact list, and e-mail listserv.
The Jain Foundation
The Jain Foundation was established by an endowment from the Jain family on September 1, 2005. Our goal is to hasten EVERY avenue that may lead us towards the cure for LGMD2B/Miyoshi. As an orphan disease, LGMD2B/Miyoshi receives little or no funding from traditional sources.
The Noonan Syndrome Support Group, Inc.
The Noonan Syndrome Support Group, Inc., is committed to providing support, current information and understanding to those affected by Noonan Syndrome and its associated anomalies.
It is also their goal to raise the awareness of, and educate the medical community, as to the complex nature of this syndrome and how it affects the lives of those who have it.
TREAT-NMD is a network for people with neuromuscular diseases and professionals working in the field. It aims to advance diagnosis and care and develop new treatments for the benefit of patients and families, working closely with scientists, healthcare professionals, the pharmaceutical industry and patient groups around the world.
University of Iowa - Campbell Lab
The Campbell Lab is interested in elucidating the molecular basis of muscular dystrophy, and developing therapeutic strategies to treat muscular dystrophy. Our current and future research focuses on four related areas: (1) the molecular pathogenesis of dystrophin glycoprotein complex disorders, (2) the mechanistic basis of maintaining muscle membrane integrity, (3) the molecular pathogenesis of disorders arising from defects in dystroglycan glycosylation, and (4) the structural basis of dystroglycan function as a basement membrane receptor.
Western Australian Institute for Medical Research
The Laing Laboratory is one of the world's foremost laboratories in the investigation of the genetic causes of muscle diseases in newborn children. The Laboratory was the first in the world to identify a gene for one sub-group of these disorders and later showed that many of the children affected with these diseases have mutations in one of the two most important proteins in muscle contraction. These results have helped families all round the world know the cause of their children's muscle problems. We are now researching possible treatments for diseases where we have identified the genes, while at the same time continuing work to find other genes for muscle diseases. The Laboratory's reputation means that we receive samples for analysis from all round the world. The Laboratory is thus playing a leading role in a consortium of groups working towards defeating these diseases.