Helpful resources for patients and HCPs.
Metabolic Disease Organizations
GACI Global is a nonprofit organization whose mission is to connect families affected by generalized arterial calcification of infancy (GACI) or hypophosphatemic rickets (ARHR2) caused by ENPP1 or ABCC6 Deficiencies to each other and to the medical community. The organization strives to provide current educational resources and supports ongoing research. GACI Global is circulating hope.
The mission of the XLH Network is to promote XLH awareness and education for affected families, medical professionals, and the community at-large; to support physicians and other providers of medical care for better diagnosis and treatment; to create resources and a community for affected individuals and their families so they can understand and cope with the complications of the disease; and to foster the search for a cure. The organization provides basic information about XLH, including several flyers and infographics. They also manage a patient registry and offer information about clinical trials.
Rare Disease Organizations
The National Organization for Rare Disorders (NORD)
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 280 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.
EURORDIS Rare Diseases Europe
Their vision is to enable better lives and cures for people living with a rare disease. Their mission is to work across borders and diseases to improve the lives of people living with a rare disease. They offer information about rare diseases and networking opportunities
Global Genes’ mission is to eliminate the challenges of rare disease: build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their disease.
Rare Disease Foundation
The Rare Disease Foundation is focused on linking basic science and clinical practice to increase the efficiency of rare disease research. This model is called Translational Care. This model drives patient based, treatment focused research projects from disease characterization to treatment with greater efficiency.
Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAnumber), essential in improving the visibility of rare diseases in health and research information systems.