Additional Resources — DNA Unicorn

Advocacy Organizations

SWAN - Syndromes Without a Name

SWAN is a nonprofit organization whose primary goal is to advocate for children and young adults who have syndromes without a name.

By providing an online portal where individuals and families can share their story, they can connect with others in similar situations to help reduce the feelings of isolation during a difficult time. You can filter through the stories by choosing the state you want to look at, and age group of stories you want to read. They also provide a $500 grant called “Ellie’s Project” which qualified families can use to put towards things like a walker, stroller, glasses, hearing aids, feeding supplies, and much more!

Although the N-of-1 community may technically have a diagnosis, the feelings of isolation and desire to find other families can be very strong. This resource provides another platform to share your story and hopefully find someone in a similar situation.

SWAN also aims to increase awareness and recognition of the undiagnosed within the medical community, educational system, social services, and general public. They hope to increase the dialogue within these systems to better improve the continuity of care and diagnostic process.

Global Genes

Global Genes is a prominent rare disease patient advocacy organization that helps people from all over the world. It was started in 2009 as a grassroots movement with just a few rare disease parent advocates and foundations, and has since grown to over 500 global organizations. Their mission is to eliminate the challenges of rare disease. They aim to build awareness, educate the global community, and provide critical connections and resources that equip individuals to become advocates for their disease.

Their slogan, “RARE is Everywhere,” rings true. The rare disease community is large, with rare diseases affecting 1 in 10 Americans, 30 million people in the United States, and 350 million people globally. Despite its size, the community lacks a unified voice, as only 15% of rare diseases have organizations or foundations providing support or driving research. Global genes does not necessarily cater to those individuals with N- of- 1 or ultra-rare diseases, but still is a valuable resource.

There are many ways to get involved with global genes, and they have several resources available: toolkits, webinars, documentaries, information about drug development, and a list of approximately 7,000 different rare diseases and disorders. RARE Toolkits provide individuals with usable information on a variety of topics related to living with and/or advocating for rare disease patients. For example, some useful ones might be: "Finding Your Fundraising Strategy," "Navigating Health Insurance," and much more!

If you don't see a topic that you need, or if you are interested in collaborating on a specific topic, you can contact them.

globalgene small.png

Genetic Databases

gene reviews other.jpg

GeneReviews

GeneReviews is a resource that is tailored for the use of clinicians and healthcare professionals. It provides summaries on inherited or genetic conditions that are continuously being updated. The information it provides is well understood by scientists and can change someone’s medical management. While this resource is not targeted for families with rare diseases, it could be useful for reading on conditions that resemble you or your child’s condition.

GeneReviews is updated on a regular basis and houses 679 different chapters on diseases linked to well-known genes. For a condition to be reviewed by GeneReviews, it has to be well-researched and well-studied; there needs to be clear information on how the condition is inherited, how to manage symptoms, and how a family is impacted by the condition.

Unfortunately, this resource is not intended for the rare disease or undiagnosed community, but it can be good for learning purposes! Hopefully in the future, rare diseases will be more easily diagnosed and identified so they can end up in GeneReviews too!

Online Mendelian Inheritance in Man (OMIM)

OMIM is the oldest online database that puts together both genetic information with symptoms and physical presentations. This information is free and updated daily. This resource is primarily geared towards healthcare professionals and provides additional links to related information and research.

This is a great source to learn more about a specific gene. Although more advanced, you can find information in regards to the symptoms associated with mutations in this gene. Many different gene mutations will be mentioned with a wide range of symptoms observed in both humans and mice, which can get a little confusing. However it may be beneficial for some!

omim tiny.gif

ClinVar

ClinVar is a resource used and created by ClinGen. ClinVar collects genetic information from participating laboratories. Expert panels review the data submitted and standardize the descriptions. ClinVar is funded by the Intramural Research Program of the NIH, National Library of Medicine and is public and free.

Say someone has done genetic testing and their results show a variant in a gene. Healthcare providers can enter that gene and variant into ClinVar to understand its impact on human health more. Sometime variants don’t impact human health at all, sometimes they do, and sometimes we aren’t sure of their impact.

*This is a website geared towards healthcare professionals, but can be utilized by anyone.

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building a central resource that defines the impact genes and their genetic changes have on human health.

Genetic and health information is shared by patients, clinicians, labs, and researchers. ClinGen’s role is to: check whether a particular gene, or change in a gene, is associated with a particular disease (whether it’s “clinically valid”); is the change in a gene causing the disease in question (pathogenicity); and lastly, is this information actionable (i.e. can we use this information in the clinic). With all of this information, they hope to build a larger knowledge base and ultimately improve patient care.

*This is a website geared towards healthcare professionals, but can be utilized by anyone.

Rare Disease Initiatives

PEER - Platform For Engaging Everyone Responsibly

PEER is an online system that allows people to share their health data for research. PEER is part of Matchmaker Exchange, a service that matches individuals based on symptoms, genetic test results, and condition. Participants can decide which researchers/organizations are allowed to access their contact information and data, and what specific data they can have access to. Through PEER, individuals may be able to connect with researchers and clinical trials.

You can join PEER as either an individual or as part of a disease-specific organization. PEER is currently being updated and the link to register for PEER as an individual is currently unavailable, so keep checking back!

Rare Disease Day

Rare Disease Day is an initiative to raise awareness about rare diseases. Rare Disease Day occurs on the last day of February each year. The purpose is to gain the attention of the public, medical professionals, policy makers, and researchers to increase their awareness of the impact of rare diseases on patients and their families. Rare Disease Day includes promoting awareness of all rare diseases, whether they have a name or whether they are N-of-1. Rare Disease Day events are run by patient organizations and occur across the world in over 80 countries.

Genetic Alliance

Genetic Alliance is a non-profit organization that engages all participants in the healthcare community from families to providers. Genetic Alliance advocates for participant opportunities in the healthcare setting to ensure basic patient needs are met, and access to innovative research. Through Genetic Alliance’s network, they deliver actionable information that will revolutionize patient healthcare practices and policy decision-making.

Genetic Alliance has various programs that focus on key components of their overall goal. They include but are not limited to: 1) “BioTrust”, which partners with PEER (see below) to accelerate finding a solution for medical conditions through clinical research opportunities; 2) “Genes In Life” is a program that provides all individuals with educational information and access to genetic testing regardless of human health.

NORD - National Organization for Rare Disorders

A patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders, through programs of education, advocacy, research, and patient services.

Some of the website's features include "Trust it or Trash it," which is a tool to help people determine whether the information they've found online is trustworthy. The website also links to other established rare disease organizations, and provides information on how to navigate insurance, drug trials, financial assistance, and much more! They have a mentorship program designed to help individuals create their own disease organizations as well.

NORD primarily focuses on rare diseases that already have a name, however, their guidance can also be applied to those with an N-of-1 diagnosis.

DNA Unicorn

Much like a unicorn, just because you haven't met someone with your disease, does not mean they don't exist.

Welcome! You may be here because you, or someone very close to you, has recently been diagnosed with an ultra rare disease: a condition so rare that it seems like no one else in the world has it. But much like a unicorn, just because you haven’t met someone with your disease, doesn’t mean they don't exist. The goal of this website is to help you locate and use the many resources that are available to assist you in finding others with a similar diagnosis.

A genetic condition is something you, or your child, or even your friend may have been living with since birth, even if it was only recently diagnosed. The disease may not even have a name yet. As new types of genetic testing become available, N-of-1 diagnoses are occurring more often. N-of-1 diagnoses are a term for genetic diseases that have not previously been described in the medical literature. Often they are only labeled by a gene name.

Getting this sort of diagnosis can make you feel confused and isolated. Medical professionals can try to help, but the information they have to offer is often limited in these early days of genetic technology. You are not alone! Experience shows that connecting with other individuals or families with the same or a similar condition can be extremely helpful as a source of emotional support and medical advice. Other families may also help point your doctor toward new therapies and better information about prognosis. We want to help you find your own N-of-1 community!