Healthcare professionals, individuals living with rare diseases or disorders, and their supportive networks face a distinct set of challenges. Access to reliable resources is crucial. Below, we have curated a selection of resources for your convenience.
Direct web links are provided where available, but for additional resources, we recommend a search by name in your preferred search engine or visits to established sites within the relevant categories. Always ensure the credibility of the information you find and consult with healthcare professionals for advice tailored to your specific needs.
Let's clarify the subtle yet significant distinctions between these commonly used terms to enhance our shared dialogue about health.
A specific medical issue characterized by a defined set of symptoms and a known cause.
A disruption of normal bodily functions manifesting as a group of symptoms, often, but not necessarily, without a pinpointed cause.
A suite of symptoms that frequently occur together, not necessarily with a known cause.
A broad term that refers to any abnormal state of health, which can encompass diseases, disorders, and syndromes.
NORD is a leading advocacy organization for rare diseases. They provide a wealth of information, patient resources, and links to support groups for various rare conditions. - Website: rarediseases.org (https://rarediseases.org/)
Run by the National Institutes of Health (NIH), GARD offers a comprehensive database of rare diseases. It includes information on symptoms, causes, and available resources.
Website: rarediseases.info.nih.gov
RareConnect is an online platform that connects patients and families affected by rare diseases worldwide. It offers forums for sharing experiences, support, and resources specific to individual conditions. - Website: rareconnect.org
Global Genes is a non-profit organization dedicated to advocating for rare diseases. Their website provides educational materials, resources for patients, and links to rare disease communities.
- Website: globalgenes.org
Rare Disease Day is an annual event on the last day of February dedicated to raising awareness about rare diseases. The official website offers resources, stories, and ways to get involved. - Website: rarediseaseday.org
Description: Orphanet is a European database of rare diseases and orphan drugs. It provides information on diagnosis, treatment centers, and ongoing research. - Website: orphanet.org
PubMed is a valuable resource for accessing scientific articles and research papers related to specific rare diseases. It can help patients and caregivers stay informed about the latest developments. -Website: pubmed.ncbi.nlm.nih.gov
ClinicalTrials.gov is a database providing information on clinical trials for various rare diseases. It can be helpful for patients looking for experimental treatments or research opportunities. - Website: clinicaltrials.gov
The following organizations focus on specific rare diseases, providing vital support, resources, and advocacy for individuals and families dealing with these conditions. Please note that this is not an exhaustive list, and there are many more organizations dedicated to rare diseases.
- Rare Disease: Cystic Fibrosis
The Cystic Fibrosis Foundation is dedicated to finding a cure and improving the lives of those with cystic fibrosis, a genetic lung disorder.
- Rare Disease: Amyotrophic Lateral Sclerosis (ALS)
The ALS Association focuses on supporting and advocating for individuals with ALS, a rare neurodegenerative disease.
- Rare Disease: Marfan Syndrome
The Marfan Foundation provides resources and support to individuals and families affected by Marfan syndrome and related connective tissue disorders.
- Rare Disease: Nephrotic Syndrome NephCure Kidney International is dedicated to finding better treatments and a cure for Nephrotic Syndrome and other kidney diseases.
- Rare Disease: Tuberous Sclerosis Complex (TSC)
The Tuberous Sclerosis Alliance supports individuals and families affected by TSC, a genetic disorder that causes noncancerous tumors to form in many organs.
- Rare Disease: Langerhans Cell Histiocytosis (LCH) and other histiocytic disorders
The Histiocytosis Association provides information and support for those affected by LCH and related histiocytic disorders.
- Rare Disease: Alport Syndrome
The Alport Syndrome Foundation is dedicated to improving the lives of those with Alport Syndrome, a rare genetic kidney disease.
- Rare Disease: Ectodermal Dysplasia
The Ectodermal Dysplasia Society offers support and resources for individuals with ectodermal dysplasia, a group of rare genetic conditions affecting the skin, hair, teeth, and more.
- Rare Disease: Fibrodysplasia Ossificans Progressiva (FOP)
FOP Connection is a support network for individuals and families living with FOP, an extremely rare condition where soft tissues progressively turn into bone.
- Rare Disease: Batten Disease
BDSRA provides support, information, and advocacy for families affected by Batten Disease, a group of rare neurological disorders.
WFH is a global organization dedicated to improving the lives of people with hemophilia and other bleeding disorders. They provide information, support, and resources for patients and families. - Website: wfhemophilia.org
NHF is a leading patient advocacy organization in the United States that focuses on bleeding disorders, including hemophilia and rare clotting disorders. They offer educational materials and support. - Website: hemophilia.org
EHC is an umbrella organization for patient groups in Europe that represent individuals with hemophilia and other bleeding disorders. They provide resources and support for patients. - Website: ehc.eu
Many countries have HTC networks that specialize in the treatment and care of individuals with bleeding and clotting disorders. These centers provide expert care and support. - Website: Search for your local HTC network.
Some clotting disorders have dedicated patient advocacy organizations. For example, the National Blood Clot Alliance (NBCA) in the United States focuses on clotting disorders. - Website: stoptheclot.org
Novartis has various patient support programs and collaborates with patient advocacy organizations to improve the lives of rare disease patients. They are involved in research and development for rare diseases.
Sanofi Genzyme is dedicated to rare diseases and offers patient support programs, educational resources, and advocacy efforts. They have a strong focus on enzyme replacement therapies.
Takeda is known for its commitment to rare diseases. They have patient support programs, educational resources, and partnerships with rare disease advocacy groups.
Bristol-Myers Squibb is involved in rare disease research and has initiatives to support patients with rare diseases. They collaborate with patient organizations.
Vertex is focused on cystic fibrosis and has patient support programs, including financial assistance and educational resources.
Amicus Therapeutics is dedicated to rare metabolic disorders. They offer patient support programs and resources for individuals and families affected by rare diseases.
BioMarin focuses on rare genetic diseases. They have patient advocacy efforts, patient support programs, and educational resources.
AstraZeneca, including Alexion Pharmaceuticals, is involved in rare disease research and offers patient support programs and resources for rare disease patients.
Ultragenyx is dedicated to rare metabolic diseases and offers patient support programs and resources for patients and caregivers.
Regeneron is involved in rare disease research and collaborates with patient advocacy organizations to support rare disease patients.
These organizations and groups focus on advocating for policies that benefit patients with rare diseases, raising awareness, and providing support and resources. Please visit their respective websites for more information on their policy initiatives and advocacy efforts.
This foundation works to accelerate biotech innovation for rare disease treatments. They advocate for policies that support rare disease research and therapies. - Website: everylifefoundation.org
RDLA is a program of the EveryLife Foundation for Rare Diseases. They advocate for federal legislation and policies that benefit rare disease patients in the United States. - Website: everylifefoundation.org/rdla
NORD is a leading advocacy organization for rare diseases. They work on policy issues related to rare diseases in the United States and provide support for patients and families. - Website: rarediseases.org
Global Genes works on policy initiatives and provide resources for patients with rare diseases worldwide - Website: globalgenes.org
EURORDIS is a European alliance of rare disease patient organizations. The advocate for rare disease policies and support patients' rights in Europe. - Website: eurordis.org
RDI is a global alliance of rare disease patient organizations. They work on global policy issues related to rare diseases. - Website: rarediseasesinternational.org
RDUK is a campaign for rare disease patients in the United Kingdom. They advocate for improved policies and support for rare diseases in the UK. - Website: raredisease.org.uk