Patient and Family Resources
Listed below are several key resources:
International Rare Diseases Research Consortium (IRDiRC)
IRDiRC unites national and international governmental and non-profit funding bodies, companies (including pharmaceutical and biotech enterprises), umbrella patient advocacy organizations, and scientific researchers to promote international collaboration and advance rare diseases research worldwide. Importantly, the coverage of the Consortium is global and involves stakeholders from Africa, Asia, Australia, North America, and Europe. Its vision is to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention. Learn more here.
National Organization for Rare Disorders (NORD) Rare Disease Database
NORD’s Rare Disease Database provides brief introductions for patients and caregivers to specific rare diseases. Learn more here.
NIH Genetic and Rare Diseases (GARD) Information Center
GARD has compiled a list of Tips for Undiagnosed Patients that contains helpful information on how to navigate the path to a diagnosis. In addition, their list of Resources for genetic testing information may be helpful to patients seeking a diagnosis through genetic testing. Learn more here.
NIH Online Research Guide
The NIH National Human Genome Research Institute has developed a guide to finding reliable health information online. Individuals conducting any research online, including related to lack of diagnosis, may find this resource helpful. Learn more here.
RareConnect is a platform for rare disease patients and families from around the world to connect. Through online communities, patients can connect and share the struggles and triumphs of their rare disease experience. An Undiagnosed Diseases Community exists to share stories and participate in discussion. Join today to share your story and connect with others on the journey to a diagnosis. Learn more here.
Rare & Undiagnosed Network
The Rare & Undiagnosed Network (RUN) advocates for genomic medicine to be incorporated into clinical practice and hosts a blog for undiagnosed patients and families. Learn more here.
Rare Diseases International (RDI)
RDI is the global alliance of people living with a rare disease of all nationalities across all rare diseases. Its mission is to be a strong common voice on behalf of rare disease patients around the world, to advocate for rare diseases as an international public health priority and to represent its members and enhance their capacities. Learn more here.
Syndromes Without A Name (SWAN) USA
SWAN USA is a 501(c)3 that advocates for awareness and policy change to benefit rare disease patients – particularly those with undiagnosed conditions – and brings together undiagnosed patients and families to support one another. Learn more here.
The Undiagnosed Diseases Network (UDN)
The UDN is the leading clinical research study for undiagnosed patients. Funded by the National Institutes of Health (NIH) Common Fund, the study bridges the gap between clinical care and research by bringing together experts from around the country to seek diagnoses for the most complex undiagnosed cases. Using advanced technologies and leading experts, the UDN furthers our understanding of how the human body works with the ultimate goal of providing a diagnosis to participants. Their research has led to the discovery of new rare diseases. Learn more here. There is also an international network, the Undiagnosed Diseases International Network (UDNI). Learn more here.
The Wilhelm Foundation advocates for undiagnosed patients and organizes the World Congress for Undiagnosed Diseases to foster collaboration between the world’s leading specialists. Learn more here.
Rare disease help lines
Rare disease help lines offer rare disease patients with social, psychological and information solutions to the unique needs of rare disease patients. A list of help lines by country can be found here.
Clinician and Researcher Resources
Listed below are several key resources:
Alliance for Regenerative Medicine (ARM) Regenerative Medicine & Rare Disease Report
This report provides industry specific statistics compiled from cell therapy, gene therapy, tissue engineering, and other regenerative medicine companies active in developing therapies for rare disease and provides context for the potential of regenerative medicine to improve upon the current standard of care. Learn more here.
American Academy of Pediatrics (AAP) Educational Resource Guide
The AAP develops professional educational activities in more than 60 topic areas for practicing physicians, residents and training professionals, and allied health professionals. Learn more here.
National Organization for Rare Disorders (NORD) Online Physician Guides
The purpose of NORD Online Physician Guides is to provide a resource for clinicians about specific rare disorders to facilitate the timely diagnosis and treatment of their patients. Family physicians, pediatricians, and other primary care providers play an important role in early identification and long-term management of patients with rare diseases. It is important for specialist and generalist alike to remain as current as possible in awareness of rare medical conditions. Visit the NORD Physician Guides website. Learn more here.
Orphanet is a search portal that provides background about rare diseases and orphan drugs. The site also provides a clinical description of rare diseases using a set of clinical signs and symptoms (phenotypic abnormalities). Learn more here.
Pediatric Education is a digital library intended to serve as a source of continuing pediatric education. Learn more here.
RevenueXl Pediatric Practice Resources
RevenueXI provides a list of various resources for Pediatrician use ranging from information about the field to industry organizations. Learn more here.