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Consumer Health: Genetics and Rare Diseases

This guide will provide general health resources for the consumer.

Genetics Databases

Genetics Home Reference 

Genetics Home Reference, Your Guide to Understanding Genetic Conditions

An excellent resource to locate information on very rare diseases.  Information is explained without medical jargon and provides basic information on genes and genetic concepts.  

Genetic and Rare Diseases Information Center (GARD)

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

GARD produced by the National Institutes of Health (NIH) is the  most complete database of rare diseases in the U.S.  Information in this resource provides consumers current, reliable and easy to understand information on rare diseases.  Provides resources for financial support and news on latest developments.

 

Orphanet

A portal for rare diseases and orphan drugs, this resource is of utmost quality aiming to gather information on genetic diseases to improve knowledge and care for those who are affected by such diseases. Established in France in 1997 by INSERM (French National Institute for Health and Medical Research), it expanded into a European project in 2000 and now has a network of over 40 countries world wide. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAnumber), essential in improving the visibility of rare diseases in health and research information systems.

Genetics Counseling

National Society of Genetic Counselors

This site explains the role of a genetic counselor and provides straightforward information on how they can be integrated into your healthcare team as well as what they can do to help with your family's genetic health.  Also provides a means of locating genetic counselors in your area.

Organizations and Associations

National Organization for Rare Diseases (NORD) 

The National Organization for Rare Diseases provides a multitude of resources for those living with a rare disease.  In addition to providing an introduction to over 1, 200 rare diseases, the resource also provides information on patient recruitment, patient assistance programs, patient advocacy groups, financial assistance programs, networks that connect families with rare diseases.  It also provides information on regional meetings and events.  NORD is also the sponsor for National Rare Disease Day which is on the last day in February.