Rare Disease Advocacy

National Organization for Rare Disorders

NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 300 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.

Visit the NORD Website

FAQs About Rare Diseases from the National Institute of Health

In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people in the US. This definition was created by Congress in the Orphan Drug Act of 1983. Rare diseases became known as orphan diseases because drug companies were not interested in adopting them to develop treatments. The Orphan Drug Act created financial incentives to encourage companies to develop new drugs for rare diseases. The rare disease definition was needed to establish which conditions would qualify for the new incentive programs. Other countries have their own official definitions of a rare disease. In the European Union, a disease is defined as rare when it affects fewer than 1 in 2,000 people.

Visit the NIH Website

Rare Disease Day

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Visit the Rare Disease Day Website

Rare Diseases Clinical Research Network (RDCRN)

The Rare Diseases Clinical Research Network (RDCRN) is an NIH-funded research network of 23 active consortia or research groups-teams of researchers, patients and clinicians-each focused on a group of rare disorders. The network fosters collaborative research among scientists to better understand how particular rare diseases progress and to develop improved approaches for diagnosis and treatment.

Visit the RDCRN Website

Understanding Rare Chromosome and Gene Disorders

Unique is a registered charity. Their mission is to inform, support and alleviate the isolation of anyone affected by rare chromosome disorder of an autosomal dominant single gene disorder and raise public awareness. You can register your or your child's rare diagnosis and can be put into contact with other families living with the same or similar reality.

Visit the Unique Website

Global Genes - Allies in Rare Disease

Global Genes connects, empowers and inspires the rare disease community.

Visit the Global Genes Website

The Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.

Visit the GARD Website

Understanding Genetics: A Guide for Patients and Health Professionals

Understanding genetics begins with a basic introduction to genetics concepts, followed by detailed information on topics such as diagnosis of genetic conditions, family history, newborn screening, genetic counseling, understanding patient stories, and ethical, legal, and social issues in genetics.

Visit the Genetic Alliance Website

Making Sense of Your Genes: A Guide to Genetic Counseling

This publication provides a public-friendly introduction to genetic counseling and its applications. A truly collaborative process, this publication is borne out of partnership between Genetic Alliance, the National Society of Genetic Counselors, students at the Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Training Program, and a number of independent advisors and reviewers. The guide includes general information about genetic counseling, tips on how to prepare for an appointment, and details about different specialties in the field.

Visit the Genetic Alliance Website

Students Living With a Genetic Condition: A Guide for Parents

This Guide provides information that may be helpful when writing a letter or when preparing to meet with your student's teacher, school nurse, and physical education teacher or coach. This may also be a useful resource for bus drivers, babysitters, church leaders, or any other potential caregiver. This packet includes general template letters that can be adapted to fit your personal needs. Once you develop your personal resource, it may be useful to laminate your resource and give it to your student to keep in his or her backpack. In addition, this resource includes ideas for how your child can talk to classmates or peers about his or her genetic condition.

Visit the Genetic Alliance Website

Talking Glossary of Genetic Terms

The Talking Glossary features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute. In addition to definitions, specialists in the field of genetics share their descriptions of terms, and many terms include images, animation and links to related terms.

Visit the National Human Gene Research Institute via NIH

Undiagnosed Disease Network

The Common Fund's Undiagnosed Diseases Network (UDN) is a research study to improve the level of diagnosis of rare and undiagnosed conditions. In the United States, it has been estimated that approximately 25 million Americans suffer from a rare disorder. The UDN established a nationwide network of clinicians and researchers who use both basic and clinical research to uncover the underlying disease mechanisms associated with these conditions. In its first 20 months, the UDN accepted 601 participants undiagnosed by traditional medical practices. Of those who completed their UDN evaluation during this time, 35% were given a diagnosis. Many of these diagnoses were rare genetic diseases including 31 previously unknown syndromes.

Visit the Common Fund website via NIH

Improving the Diagnostic Odyssey for Rare Disease Patients - Video

This video and article overviews what rare diseases are and how we classify them, what populations rare diseases impact, and focused on the challenges and potential solutions to better improve the diagnostic odyssey

Watch the Video at All Health Policy

Genetics Education Materials for School Success (GEMSS)

The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Learn more from GEMSS

Medical Traumatic Stress - Resources on How to Help your Children Cope

Traumatic stress symptoms are common after a serious illness, injury, or hospitalization. Even though it is your child who is ill or injured, your whole family can be affected. It's normal for you, as a parent, to feel overwhelmed or unprepared to help your child (or yourself) cope.

Read the Trauma Informed Cared PDF