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primary sclerosing cholangitis research.
Rare Disease Research Study: Primary Sclerosing Cholangitis
Primary sclerosing cholangitis is a chronic disease in which the bile ducts inside and outside the liver become inflamed and scarred, and eventually narrowed or blocked. It is one of the several disease areas we are studying as part of our Rare Disease Research Study. There are challenges with the funding, awareness and understanding around rare diseases like this, which often make research advancements and approved treatments just as rare. Together, we have the power to change that. In this study, 23andMe researchers aim to learn more about the genetics of people living with this disease that could ultimately lead to the development of better treatments.
By choosing to participate in this research, YOU can potentially make a difference in your own life and the lives of people living with this condition. It's time to push primary sclerosing cholangitis research forward, together.
Our goal for this study is simple - we want to improve the lives of people living with primary sclerosing cholangitis by working towards developing effective new treatments. Your participation is vital in helping us reach this important goal.
Why your participation is so important
Primary sclerosing cholangitis is a rare disease, which means it affects less than 200,000 people in the United States. Together we have an opportunity to contribute to research around primary sclerosing cholangitis and help shed light on the disease. Through our research, people living with primary sclerosing cholangitis can provide genetic information and invaluable insight that can bring us closer to future treatment discovery.
You are eligible to participate in this study if you:
- Have been diagnosed with primary sclerosing cholangitis
- Are 18+ years old
- Live in the U.S.
- Are willing to provide a saliva sample for DNA testing
- Are willing to complete online research surveys related to your condition
How It Works
Participation in the study is simple and can be done entirely from home. If you are eligible and choose to enroll in this study, you will receive a 23andMe Health + Ancestry kit at no cost. After providing a saliva sample, you will be invited to answer online survey questions about your overall health and your experience with primary sclerosing cholangitis.
Learn more about the 23andMe Health + Ancestry Service here and read important test information here.
Who We Are
The name 23andMe refers to the fact that human DNA is organized into 23 pairs of chromosomes. Founded in 2006, it is our mission to help people access, understand and benefit from the human genome. With the help of our 23andMe community, we believe we can accelerate research and make an impact with genetic data.
If you choose to consent to participate in this study, you will be asked to agree to the sharing and transfer of your individual-level Genetic Information and Self-Reported Information to qualified third-party collaborators including advocacy organizations, clinical research centers, pharmaceutical companies and patient registries and/or databases. Your data will be stripped of identifying information, such as your name and contact information. If you agree, your de-identified individual-level data may be accessible by other qualified researchers for the purpose of research on rare diseases like primary sclerosing cholangitis.
FAQs and Resources
Still have questions about our research on primary sclerosing cholangitis through our Rare Disease Research Study? Here are a few of the things people frequently ask about.
Don't see your question here? Get in touch with us at firstname.lastname@example.org.
This is a research study focused on better understanding the underlying genetic and environmental factors that contribute to rare diseases. The ultimate goal of this research is to develop effective treatments for the diseases we are studying that may improve the lives of those living with one of these conditions. Your help is vital. Learn more about what rare diseases we are studying on our Rare Disease Research Study page.
Currently, the cause of primary sclerosing cholangitis is unknown, but previous research suggests that there is a strong genetic component. The 23andMe unique research platform enables a large group of individuals to come together to provide valuable data for scientists studying rare diseases. This research data includes Genetic Information (using DNA from saliva) and Self-Reported Information about each participant's unique experiences (using responses from online surveys). Conducting research using this data may help find better treatments for primary sclerosing cholangitis or similar conditions.
We believe that this study will enhance research into primary sclerosing cholangitis by:
- Bringing together a large group of people to better understand how genes may influence primary sclerosing cholangitis.
- Expanding the geographic reach of the research study by enabling participation from home.
- Removing some of the time and cost barriers that can slow progress in other types of studies.
Our goal is to enroll 1,000 participants with primary sclerosing cholangitis.
You can participate in this study if:
- You are over 18 years old and live in the United States.
- You have been diagnosed with primary sclerosing cholangitis or one of the other rare diseases we are studying.
- You are willing to provide a saliva sample for DNA testing.
- You are willing to complete two online surveys.
If you have been diagnosed with primary sclerosing cholangitis by a medical professional and you meet the other criteria listed above, you may be eligible to participate in this study.
- Enroll and consent through the 23andMe website so you can contribute your Genetic Information and Self-Reported Information (e.g., survey responses) to the Rare Disease Research Study.
- Respond to a short questionnaire to determine your eligibility to participate.
- Register your 23andMe kit and provide a DNA sample (from your saliva) for genetic analysis, if you are eligible to participate. We will securely store this saliva sample/DNA in our laboratory.
- Complete two online surveys about your overall health and your experience with the condition. These surveys will include questions about your diagnosis, treatment, symptoms, medications and family history. We may also ask you to complete short follow-up surveys regarding your experience with primary sclerosing cholangitis over time.
- Being a 23andMe research participant means that you will agree to contribute your Genetic Information and Self-Reported Information for research purposes. There are many aspects to being a research participant. We have summarized the most important ones below. If you have more questions, you can contact us at email@example.com.
You will be asked to:
- Respond to a short questionnaire to determine your eligibility to participate.
- If eligible, you may choose to enroll and consent through the 23andMe website so you can contribute your Genetic Information and Self-Reported Information (e.g., survey answers) to the Rare Disease Research Study.
- Receive your 23andMe kit, register it online, and provide a DNA sample (from your saliva) for genetic analysis. We will keep this saliva/DNA stored in our laboratory.
- Complete two online surveys about your experience with your condition. These surveys will include questions about your overall health, diagnosis, treatment, symptoms, medications and family history. We may also ask you to complete short follow-up surveys regarding your experience with primary sclerosing cholangitis over time.
If you choose to participate in this study, 23andMe will use your data in accordance with our Privacy Statement. The Privacy Statement describes the ways your data will be used, including : 1) to provide you Services as a customer of 23andMe and 2) for research purposes as a Rare Disease Research Study research participant.
When we provide our Services to you, we use your data to:
- Open your account, enable purchases and process payments, communicate with you, and implement your requests (e.g., referrals).
- Process and deliver your genetic testing results.
- Offer new products or services to you, including through emails or promotions.
- And more as described in our Privacy Statement.
In order to enroll in our Rare Disease Research Study you will need to agree to several consent documents which enable us to use and share your data in the following ways:
If you agree to the main 23andMe Research Consent Document, we may share summaries of research results, which do not identify any particular individual, with qualified research collaborators and in scientific publications. 23andMe publishes and shares research results on many different topics.
Non-summarized, individual-level data:
If you agree to the Rare Disease Research Study Consent Document, you will consent to share individual, non-aggregated data with our qualified third party partners, including advocacy organizations, pharmaceutical companies, clinical research centers, and controlled-access patient registries and/or databases. Your data will be stripped of identifying information, such as your name and contact information. If you agree, your de-identified individual-level data may be accessible by other qualified research collaborators for the purpose of biomedical research.
This means we can share your individual Genetic Information and Self-Reported Information with qualified third party researcher collaborators without bundling it. The information we share about you with our research collaborators will be stripped of identifying components (name, email, address, user ID and password). These researchers will only be able to use your data for biomedical research, including research on the rare diseases included in the Rare Disease Research Study.
We encourage you to read these consent documents carefully. For your records, you can print each of the consent documents or review them at any time by going to your Account Settings. If you have any questions, don't hesitate to reach out to us at firstname.lastname@example.org.
- If you participate in 23andMe Research, 23andMe will collect and store your Genetic Information and Self-Reported Information (this includes survey answers you might feel are sensitive in nature). Although 23andMe implements physical, technical, and administrative measures to prevent unauthorized access to or disclosure of your Personal Information, in the event of a data breach, your Personal Information may be compromised.
- Participating in the Rare Disease Research Study also means that your de-identified data may be stored in more locations. This may increase the risk of a security breach that could lead to the leak of your data. In the event of a breach, your information may become available to your employer, insurance company, or other individuals you did not want to inform. We believe the chance that someone could identify you is very small, but the risk may grow in the future if people come up with new ways of tracing information. There are currently laws that prevent your employer and health insurance provider from using your genetic information against you. However, these laws may not fully protect you in every situation.
- Please refer to How do you protect the confidentiality of my data? for more information about this risk.
- If you choose to access the Health, Traits and Ancestry Reports resulting from your use of the 23andMe Service, you may learn information about yourself that you do not anticipate (e.g., that you are not related to a family member in the way you thought, surprising facts related to your ancestry, or that you could pass on an inherited genetic condition to your children). Your 23andMe reports are not intended to diagnose a disease, or tell you anything about your risk or likelihood for developing a disease in the future. Please contact a qualified medical provider if you have any questions or concerns about the results contained in your reports.
- Please refer to our Terms of Service and Privacy Statement for more details about the risks of being genotyped.
This is a new opportunity to participate in primary sclerosing cholangitis genetics research. As a research participant, you:
- Could play a role in helping researchers understand the relationship between primary sclerosing cholangitis and genetics.
- Will be kept informed of the discovery process as research advances.
- Will have the option to learn more about your genetic health and ancestry.
If you agree to participate in the Rare Disease Research Study, your participation includes the use of a 23andMe DNA kit and optional access to the 23andMe Service at no cost. As part of joining this study you will be required to agree to the 23andMe Terms of Service document.
We want to make sure you understand that while participating in the study activities described below, the following sections of the Terms of Service will not apply to the extent they prevent you from pursuing a claim if you suffer a research-related injury:
- Section 4 ("Indemnity")
- Section 4 ("Disclaimer of Warranties")
- Section 4 ("Limitation of Liability")
- Section 5(f) ("Term for Cause of Action")
Study activities include:
- Providing a saliva sample for genetic analysis using a 23andMe DNA kit.
- Completing the Rare Disease survey and Health Profile surveys. We may also ask you to complete short follow-up surveys regarding your experience with primary sclerosing cholangitis over time.
Please note, however, that if you choose to use any of 23andMe's products, software, services, and website, outside of your participation in these study activities, you will be, just like all users of 23andMe's products, software, services, and website, subject to the 23andMe Terms of Service.
Joining this study will not affect your diagnosis or treatment options today. Participation allows you to contribute to an effort to potentially develop more effective treatments that can improve the lives of those living with primary sclerosing cholangitis.
- At this time, the 23andMe® Personal Genetic Service does not include health reports on primary sclerosing cholangitis or related conditions.
At this time, enrollment in the Rare Disease Research Study is limited to United States residents. We currently do not have plans to expand this study to residents of other countries.
Research projects like this must be carried out under the supervision of a research ethics committee. In the United States this is called an Institutional Review Board (IRB), which is an independent ethics panel that ensures all research is conducted in accordance with government and ethical guidelines. 23andMe has approval from our IRB to conduct the Rare Disease Research Study only in the United States, and therefore we are not authorized to enroll participants who live outside the United States at this time.
If you misplace your kit, don't worry. Email us at email@example.com and we will mail you a new one at no cost. Once you're enrolled, we'll send you reminders to return your kit.
You can withdraw from research at any time by changing your consent status in your Account Settings. Email us at firstname.lastname@example.org and we can help you.
We are here to answer your questions. Email us at email@example.com and we will do our best to get back to you within two weeks.
As more people join this study and our research scientists start to look at the data, there may be an opportunity to participate in additional studies to enhance the research for primary sclerosing cholangitis and other rare diseases. For example, we may also ask you to complete short follow-up surveys regarding your experience with primary sclerosing cholangitis over time.
If there are any additional study or survey opportunities, we will let you know about them through your 23andMe.com account and/or email.
- If a commercial product is developed as a result of findings from this research, rights to the commercial product will belong to 23andMe and their collaborators. You and your family will not receive any financial benefits or compensation from or have any rights in any developments, inventions or other discoveries that might come out of this research.
Existing and New Customers
Existing customers are individuals who have been genotyped by 23andMe prior to joining the study, and we welcome them to complete the Rare Disease survey. There is no need to complete the study enrollment process; you can get started now by taking the survey here: Rare Disease Survey link.
However, please know that the product experience will not change as a result of an existing customer's participation in a study. For example, if an existing customer purchased the Ancestry plus Traits Service, they will not gain access to the Health plus Ancestry Service without purchasing an upgrade.
New customers have not yet participated in 23andMe’s services and have not had their saliva analyzed prior to enrolling in a study. If they enroll in this study and meet the eligibility criteria, new customers will receive the 23andMe Health plus Ancestry Service, including a DNA test kit, at no cost. Learn more about the 23andMe Health plus Ancestry Service here and read important test information here.
23andMe® Personal Genetic Service
23andMe's Personal Genetic Service offers over 150 personalized genetic reports on your health, traits and ancestry based on your DNA. You can learn more about this service at 23andMe.com.
If you are new to 23andMe, as part of your participation in this research study, you will receive complimentary access to 23andMe®'s Personal Genetic Service. Learn more about the 23andMe Health plus Ancestry Service here and read important test information here.
If you are already a customer of 23andMe, you will not be eligible to receive an additional complimentary 23andMe®'s Personal Genetic Service kit.
You will continue to have access to your 23andMe account and will receive report updates as long as the Genetic Information referenced in those updates is generated from your original DNA sample. If a future feature or report relies on DNA results not included in your initial analysis, you may need to purchase a chip upgrade and/or subscription to access that feature or report. Any future upgrades beyond the current technology are not included as a benefit to participation.
Security and Confidentiality
23andMe may share only de-identified, individual-level data with qualified research collaborators or upload these data to a controlled-access database. This means you cannot be easily identified by others whom we may collaborate with in the future (researchers, scientists, etc.).
We built all of our systems with the privacy and security of our research participants at the center and we have a number of safeguards in place to ensure confidentiality as much as possible. All data in the research computing environment are disconnected from your contact or registration information and are coded with a unique research ID.
There are always unknown threats in information security. Therefore, we cannot fully guarantee the security of your data. However, we constantly update our security systems and protocols to deal with new threats as they become known. We protect against known factors by applying industry practices in all of our information security procedures.
All 23andMe Research is performed in a secure computing environment with access restricted to research scientists and system administrators. All 23andMe servers are protected by technical, physical, and administrative procedures. Our servers are monitored for unauthorized activity. Your Genetic Information and sensitive account information, such as passwords, are encrypted, as are all data transfers between our servers and your computer(s).
23andMe also has agreements with research collaborators regarding the security and storage of data that is shared outside 23andMe. Although 23andMe cannot provide a 100% guarantee that your data will be safe, 23andMe policies and procedures minimize the chance that a breach could take place.
Lastly, several laws at the federal and state levels help protect people against genetic discrimination. In particular, a federal law called the Genetic Information Nondiscrimination Act (GINA) is designed to protect people from this form of discrimination. This law makes it illegal for health insurance providers to use or require genetic information to make decisions about a person's insurance eligibility or coverage. It also makes it illegal for employers to use a person's genetic information when making decisions about hiring, promotion, and several other terms of employment. We will not provide any person's data (genetic or non-genetic) to an insurance company or employer. GINA and other laws do not protect people from genetic discrimination in every circumstance.
Before you enroll, we recommend exploring these resources:
The 23andMe Service Read more about Health plus Ancestry
23andMe and your personal information Learn more about protecting personal info
How 23andMe safeguards your information Learn more about safeguarding info
23andMe Research Learn more about research
Genetics 101 videos Watch now for Genetics 101
23andMe Terms of Service Read now about terms of service
23andMe Privacy Statement Read now about privacy
What unexpected things might I learn from 23andMe? Read now about unexpected results
Important test information Learn more about imporant test info