Progressive Familial Intrahepatic Cholestasis is a rare, severe, and genetically inherited liver disease in which the flow of bile from the liver is blocked even though the bile ducts are open. Bile is produced in the liver and has the role of removing toxins and aids in breaking down fats in food. Due to the genetic defect, the liver cells are damaged and this prevents the body from absorbing fats and vitamins properly.
Read Eleanor’s story here. Eleanor’s mother knew something was wrong when she developed severe itchy skin. Thereafter, she was diagnosed with PFIC. Eleanor and her mother have utilized online support groups for information, resources, and connections. Do you belong to a local support group? What kinds of resources has your group provided?
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
Sou a mãe de Lucas, que tem uma doença rara.
Ele foi diagnosticado por Rare Genomic com
colestase intra-hepática progressiva familiar tipo 3 (PFIC3), mas a variante...
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Created by shannon.ashoori | Last updated 24 Aug 2020, 04:52 AM
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