Abetalipoproteinemia is a rare disorder causing interference with the normal absorption of fat and fat-soluble vitamins from food.
Hello Everyone, My name is Jenn and I am a research coordinator working with Dr. Daniel Rader at the University of Pennsylvania (UPenn) in Philadelphia, PA. I hope that you may be interested in assisting us with our research study to better understand Abetalipoproteinemia. The purpose of this study is to verify if cells called "induced pluripotent stem (iPS) cells" that are created using a technology have characteristics similar to the cells collected from the body. We are also studying how changes in certain genes affect how these cells work and behave. The iPS technology allows researchers to take cells from blood samples and to make different cells which can be grown in the laboratory, stored and studied in the future. We will use the cells collected to create a type of cell known as a pluripotent cell. This type of cell can then be used to create different types of tissue, including liver cells that are difficult to obtain otherwise. The information obtained in this study will be used to better understand how changes in genes lead to disorders like Abetalipoproteinemia and will aid in the discovery and development of better therapeutic options for patients. The study involves a single blood draw. If you do not live close to Philadelphia or if it is not easy for you to travel to UPenn, I will mail you a package containing instructions and all the necessary materials to have the blood drawn at your doctor's office or a laboratory of your choice. If you are able to travel, the visit can be conducted in the Clinical and Translational Research Center at the Hospital of the University of Pennsylvania. Thank you so much for taking the time to read this post. Please feel free to contact me if you are interested in participating, would like more information or have any questions. Take care, Jennifer Tabita-Martinez Research Coordinator Senior University of Pennsylvania (P) 215-615-3421 firstname.lastname@example.org
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.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.