A rare disease is any disease that affects a small percentage of the population. Most rare diseases are genetic and thus are present throughout the person’s entire life, even if symptoms do not appear at birth. A disease may be considered rare in one part of the world, or in a particular group of people, but still be common in another. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, according to Wikipedia. The following nonprofits and advocacy organizations have made it their mission to identify, research, track, and advocate for parents, patients, educators, and researchers of these rare diseases. They are creating a community where information can be shared as they strive to improve the diagnosis, treatment, and quality of life of those who are affected.
Advocacy ATLAS – Genetic Alliance
Accessible Tools for Leadership and Advocacy Success (ATLAS) “is a toolkit created by Genetic Alliance, Parent to Parent USA, and Family Voices that provides individuals with special healthcare needs and their families with tools and strategies to advocate for whatever they may need.”
Birth Defect Research for Children
This organization provides parents and expectant parents with information about birth defects and support services for their children. They have a parent-matching program that links families who have children with similar birth defects. BDRC also sponsors the National Birth Defect Registry.
Disease InfoSearch – Genetic Alliance
“A resource for curated and crowdsourced disease information to help individuals access quality and credible information… and connects individuals to support organizations and avenues to participate in research.”
Global Genes – Alliances in Rare Disease
Their mission is “Helping patients find and build communities, gain access to information and resources, connect to researchers, clinicians, industry, government, and other stakeholders, share data and experiences, stand up, stand out, and become effective advocates on their own behalf.”
Myasthenia Gravis United
Learn about this rare disease, its diagnosis, and treatment.
National Center for Biotechnology Information – Genetic Testing Registry
According to their website, “The Genetic Testing Registry (GTR®) provides a central location for voluntary submission of genetic test information by providers. The goal of the GTR is to advance the public health and research into the genetic basis of health and disease.”
NIH –Genetic and Rare Diseases Information Center (GARD)
Provides guidance on support for patients and families about the various types of nonprofits and support groups. GARD’s site says they “provide the public with access to current, reliable, and easy to understand information about rare or genetic diseases in English or Spanish.”
National Organization for Rare Disorders (NORD)
NORD’s site says they are “committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.”
Provides news and research articles on human genetics and rare diseases.
Online Mendelian Inheritance in Man (OMIM)
OMIM describes itself as “a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.”
Putting Rare Diseases Patients First
According to their website, “This organization seeks to provide empowering information to rare disease patients, and the parents of children with rare diseases, about the clinical trial and drug development process.
Rare Diseases Clinical Research Network (RDCRN)
The RDCRN advances medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing. 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.
Rare Genomics Institute –Rare Disease List
Rare Genomics’ mission is to help patients find diagnoses, treatment, and cures through genome sequencing for children with rare diseases. In this list, they identify diseases, how they are currently treated, and if any clinical trials are underway.