R.A.R.E.G.E.N.E.
R.A.R.E.G.E.N.E.
Improving the Rare Diseases Experience
Our Current Focus
EXPANDING GENETIC UNDERSTANDING
Approximately 80% of rare diseases have a genetic component. Some have well defined genes which affect the disease, but many do not. It is our goal to define overarching genetic markers which may help direct patients to the correct specialist for a more prompt diagnosis.
DEFINING THE JOURNEY
We will use your survey responses and provided medical summaries to discover the subtle social patterns associated with the rare disease diagnosis journey. This will consider factors as simple as insurance coverage and access to healthcare, all the way to the intricacies of how we talk about rare diseases in a medical setting.
EXPLORING PHYSICAL PATTERNS
Healthcare providers diagnosis diseases based on physical symptoms and test results. Rare diseases symptoms are often misattributed to common diseases, leading to lengthy wait times. We aim to use diagnostic codes within your records to create a defining list of symptoms to help direct patients to their appropriate specialist.
Meet the Team
Our team of researchers at University of Missouri - Kansas City are passionate about precision medicine and creating a healthcare system designed to promptly and effectively provide care to all.
Frequently Asked Questions
If you have any questions not addressed here, feel free to email any of the research team and we will be happy to answer them.
Will you share my data with outside parties?
Nope! All of your identifiable information will be removed prior to any analysis, and shared only within the research team.
Can I participate if I dont want to share my genetic information?
Yes! We understand if you have concerns about sharing your genetic information and would be happy to have you in our registry.
Will I be given my genetic information after sequencing?
While you will not immediately be given access, you will be able to request your information via REDCap. This is to make sure you and only you access the information, and that you fully understand what can be done with it.
If you have participated and would like access to your sequence, please check your email for instructions
Is this the same as other ancestry or genetic health groups?
We will not be returning any individuals ancestry or health insights. If you would like, we can provide you with your raw genetic sequence, which you may use how you like.
I already have genetic testing, do I need to be sequenced again?
This depends on the type of genetic testing you have previously had. If it was through an organization such as 23&me or Ancestry, you can simply upload it to your profile.
If you had full sequencing through a healthcare provider, you can also upload that; however, if it was any other type of sequencing/testing we will need you to complete the sample collection process.
How do I participate?
It's as easy as clicking the button below! You will be directed to our REDCap server to participate.
First, we have to make sure you completely understand what it means to participate in this study. By selecting the button bellow you will be directed to the consent form.
I do not have a rare disease, can I still participate?
Yes! Like all well conducted research, we will need a control group to compare to.
Do I have to pay to be a part of this study?
Nope! This registry is completely free to participate in. Made possible through Donations
We're sad to see you go, but we understand. Simply press the button below, answer a few questions, and you will no longer be contacted as part of this study.
You request to leave the progect via the your REDCap queue. (Check your email)
I would like to be removed from the study, how do I do this?
Get in Touch
2464 Charlotte St
Kansas City, MO 64108
(816) 235-5600