EURORDIS’ mission is to build a strong pan-European community of patient organisations and people living with rare diseases, to be their voice at the European level.
The Global Alliance for Genomics and Health (Global Alliance)
e data sharing. The promise of genomic data to revolutionize biology and medicine depends critically on our ability to make comparisons across millions of human genome sequences, but this requires coordination across organizations, methods, diseases, and even countries. The members of the Global Alliance for Genomics and Health are working together to create interoperable approaches and catalyze initiatives that will help unlock the great potential of genomic data.
Rare Genomic Institute
RGI is an international non-profit that provides access to cutting edge research technologies, physicians, and scientists across the globe. By providing an expert network and an online crowdfunding mechanism, RGI helps families pursue personalized research projects for diseases not otherwise studied.
RGI bring together scientists who share our passion for helping patients with rare diseases and leverage the crowdfunding capabilities of the Internet to bring the hope of a cure to our patients.
The National Organization for Rare Disorders
The National Organization for Rare Disorders (NORD), a 501(c)(3) organization, is a unique federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
NORD supports innovative research, fair and consistent government policies, and access to medically necessary treatments.
Jansen’s metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant human disorder characterized short-limbed dwarfism due to delayed chondrocyte differentiation and an associated, usually severe hypercalcemia and hypophosphatemia, despite normal or undetectable serum levels of PTH or PTHrP. These abnormalities are caused by mutations in the PTHR1 that lead to constitutive, PTH- and PTHrP-independent receptor activation. Since the PTHR1 is most abundantly expressed in kidney and bone, and in the metaphyseal growth plate, these findings provide a likely explanation for the abnormalities observed in mineral homeostasis and growth plate development associated with this disorder.
Dr.Linda Rozell Shannon
Linda Rozell Shannon, the founder of the VBF is the world’s leading lay expert in the field of Vascular Birthmarks. Her remarkable dedication and outreach have made treatment possible for thousands of children all over the world.
Linda’s journey began with the birth of her daughter, Christine, and the end of the road is nowhere in sight! In 1995, with the help of Dr. Martin Mihm, she started the Vascular Birthmarks Foundation. In 1996, she began her work on the book entitled, “Birthmarks, A Guide to Hemangiomas and Vascular Malformations.” Published in 1997, it is still the only publication available on the subject that is written for parents. Seeing the lamentable lack of information regarding birthmarks and the fact that treatment options were often ignored by childrens’ primary care physicians, Linda made a goal to get that information out there so parents and physicians can make informed choices about the care of children with birthmarks.
Vascular Birthmarks Foundation
An international charitable organization that provides support and informational resources for individuals affected by hemangiomas, port wine stains, and other vascular birthmarks and tumors, sponsors relevant research and promotes physician education.
George Mason University, USA
to be monogenic. The OMIM database hosted by NIH, Orpha.net database from European Union and Globalgenes are some organizations that maintain databases of rare diseases. CSCMRD will study rare diseases with metabolic components including mitochondrial diseases.