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RareShare News
July 2017

https://rareshare.org

 

Our Vision

With the relaunch of RareShare.org, we would like our members to join in advancing the website’s vision. Our goal is to support new and existing communities to become an interactive experience rather than static online forums.  In order to achieve this, RareShare believes it will take a collaborative effort.  We can accomplish this by building even stronger relationships with our current community members and the volunteers who contribute their time and effort to building and maintaining the website.

RareShare’s content will include:

  • up-to-date, medically-reviewed disease descriptions,

  • patient-friendly eBooks that provide more in-depth information,

  • interviews with leading medical experts, including podcasts about specific rare disorders and discussions of broader issues like insurance,

  • information on registries or other subjects of interest to the rare disease community as a whole,

  • and, finally, resources for learning about and understanding clinical trials.

Wish to share with RareShare?

  • Do you know of other resources that ought to be included on the website?  Share it! Tell us what you think should be added to the website.

  • Do you know physicians, other healthcare professionals or researchers who would be appropriate for one of our podcasts, or to review rare disease medical information? Share it!

  • Do you know family, friends, colleagues who would benefit from the RareShare website?  Share it via your social media.

In addition to the website’s content, your feedback about its design and functionality is welcome.  Are we missing anything?  Is the website easy to navigate?  Your insights, experiences and suggestions on how to grow and improve the RareShare website will help us better serve you.  Contact us via e-mail at support@rareshare.org.

As the new RareShare grows, our vision is to expand all of the above mentioned services and provide as much support and information as we can for each individual community. We want to make RareShare a true community, governed by a collaborative and supportive approach.

Antidote on RareShare                        

Clinical trials are studies in which human volunteers are given potential treatments to determine if they are safe and effective for a specific disorder or disorders.  Results of such studies may lead to regulatory approval of new treatments for broader distribution.  Such treatments can include drugs, medical devices, gene therapy, stem cell transplants or biologic therapies like vaccines or specific blood products.

RareShare is working with Antidote, a digital health startup that seeks to match people to appropriate clinical trials.  Each RareShare community has a section called “Clinical Trials” where you can access an online search tool, powered by Antidote, to match you to clinical trials that may be right for you, just by answering a few questions.

Investigators conducting clinical trials for rare disorders sometimes have difficulty finding enough people who meet the specific criteria for the trial because so few people have the disorder.  RareShare is working with Antidote to provide an opportunity for rare disease patients to find relevant clinical trials.

The Food and Drug Administration (FDA) provides information and guidelines about participating in clinical research.  Patients should talk to their doctors or other medical professionals such as genetic counselors about the pros and cons of participating in a clinical trial and whether it is appropriate for them.

https://www.fda.gov/ForPatients/ClinicalTrials/ucm20041753.htm


CoRDS Registry



The new RareShare is dedicated to providing members of its rare disease communities support, information, networking, and a place to talk and share experiences with other families dealing with rare disorders, medical professionals, and others interested in helping people with rare diseases.  
Toward those goals, RareShare and Rare Genomics are proud to announce a partnership with the Coordination of Rare Diseases at Sanford (CoRDS) registry. Everyone who participates in a RareShare community is welcome to participate in the CoRDS registry.

A registry is a database that contains information about patients who have a specific disorder or one of a group of disorders. The CoRDS registry is for all rare diseases and it is free for patients to participate. Patients will enter information about their rare disease and how it affects them. This is done by answering a series of questions. Doctors and researchers are able to access the information from the registry to help with their research. The information they access will not include any identifiers of the patient; this means that the doctors will not know from whom the information came. The CoRDS registry contains basic contact and clinical information on any patient who chooses to participate. This includes people with a diagnosis of a rare disease, people who are undiagnosed, and people who have an uncommon disease with unknown prevalence (meaning that the disease may be rare, but doctors aren’t sure).

This information is vital to helping researchers study and learn about rare diseases. Researchers can apply to be able to access the information in the CoRDS registry. They must have the appropriate IRB (Institutional Review Board) approval from the research center before they can apply. An IRB is basically an ethics panel or committee that reviews, approves, and monitors clinical research involving human subjects. After the researcher’s application has been reviewed by the CoRDS Advisory Board, the researchers may log in to CoRDS and view de-identified data that might be helpful to the research they are conducting. Researchers can ask to contact a patient through the registry. CoRDS personnel will contact the patient on the researcher’s behalf.

The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases. Researchers may also use the registry to contact patients about participating in clinical trials, including trials that explore new treatments.

Registries can be very important for rare diseases because, by their nature, rare diseases affect smaller patient populations than common diseases. Therefore, it is difficult to find patients for clinical trials, and sometimes it is difficult for researchers to develop a complete understanding of a rare disease because they do not have enough people to study. Rare disease patients do not have the luxury of saying, “someone else can give that information”; they’re simply not enough patients for many rare diseases to think in that manner.

Most patient registries require that patients, either directly or through their doctor, submit personal information. They will have to sign an informed consent document. It is recommended that patients talk to their personal doctors about participating in a registry. People with genetic disorders can also talk to genetic counselors about the pros and cons of participating in a registry.

The CoRDS registry is run by Sanford Research, which is a nonprofit research organization and is part of Sanford Health, an integrated health system headquartered in the Dakotas. Sanford Health is one of the largest health systems in the nation with a presence in nine states and three countries.

The CoRDS registry includes over 560 rare diseases from participants from 51 countries, in all 50 states as well as the District of Columbia. The CoRDS/RG Registry will collect data on undiagnosed conditions to assist communities as they assemble a database to accelerate research and increase awareness on underserved rare diseases and disorders. Visit http://www.sanfordresearch.org to enroll.

iHope
Rare Genomics Institute (RG) is happy to share the story of the VanBrocklins, a family from Wisconsin who received free clinical whole genome sequencing through RG as part of its iHope program in collaboration with Illumina, Inc.  

“It is our hope that more support is given for undiagnosed children, so that they may receive the treatments and care that they have desperately needed throughout the years” says Romina Ortiz, Chief Operating Officer of Rare Genomics Institute.  

Two of the the VanBrocklins' three children, experienced developmental and chronic joint symptoms, fatigue, and other issues. Through whole genome sequencing, the VanBrocklins finally received answers in their diagnostic journey.

The family first turned to Rare Genomics in August of 2016 and were accepted in the iHope program by its launch in December. Their genetics team at the Medical College of Wisconsin is now able to continue to support this family, guiding them to further clinical care tailored to their genetic results. Both children are able to receive further treatments and therapies that they otherwise would not have received without the results or diagnosis. To view their story, visit the Rare Genomics Institute channel on YouTube.

"Now we know, we have solid evidence. It’s not just based off different tests, we have something that is directly related to him and it’s helped him dramatically. Now that we know what is with our daughter, which routes we need to go. Thank you, I can’t say it enough,” says the children's father, Jonathan VanBrocklin.



 
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