Giant axonal neuropathy is a rare neurological disorder involving the dysfunction of a specific type of protein in nerve cells which is essential for normal nerve function because it forms neurofilaments that help to define the shape and size of the neurons.
Hi everyone. It is very important that every GAN patient have gene sequencing / mutation analysis done. There are two doctors that perform this, Dr. Flanigan in Utah, USA and Dr. Houldon in London, England. This is a blood test that can be drawn by your local care provider and sent to their labs. Each of the physicians can send the instructions for the process of drawing the blood (what color vial, how much, packing, shipping, etc.) This can take some time, up to 12 weeks. We need to be sure that we each have this done, as it tells researchers about the particular mutation. Please contact Hannah's Hope Fund for contact information for these doctors. Website: http://hannahshopefund.org Email: firstname.lastname@example.org email@example.com Phone #: 518-383-9053
|Hannah's Hope Fund for Giant Axonal Neuropathy||
We are a parent, family and friend driven organization dedicated to finding a treatment and a cure for Giant Axonal Neuropathy. We are funding research, raising awareness, and facilitating communication to stop this ravaging disease.
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.
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