Undiagnosed International Joint Recommendations: Undiagnosed Rare Disease Patients


 123Genetix is an innovative social enterprise created to empower rare disease research. At 123Genetix we believe that rare should not mean forgotten. To empower rare disease research we have created a growing library of computational models of rare diseases. These models are easily customizable by the investigator and have a number of important applications. They are designed for hypothesis generation, research and experimental planning, grant writing and novel targeted therapy identification. For more information, visit our website at or contact Dr. Wayne Danter at [email protected].


American MedChem Nonprofit Corporation (AMC) is committed to discover and develop small molecule-based medicines to treat children who suffer from rare or neglected diseases. These research efforts, in close partnership with our collaborators, will bring forward new drugs to cure these childhood diseases and improve the health and quality of life of children, their families and the community. Focused and experienced drug discovery research is crucial to create new medicines to treat children afflicted with these diseases for which effective therapies do not exist. Passionate AMC scientists expedite the path to breakthrough medicines through a systematic and high-quality translational drug discovery research approach that is focused on rare and neglected diseases of childhood.


all_trials_logo-1280The AllTrials campaign was launched in January 2013 and calls for all past and present clinical trials to be registered and their results reported. It is an initiative of Ben GoldacreBMJCentre for Evidence-based MedicineCochrane CollaborationJames Lind InitiativePLOS and Sense about Science and is being led in the US by Sense About Science USADartmouth’s Geisel School of Medicine and the Dartmouth Institute for Health Policy & Clinical Practice. Since then, the AllTrials petition has been signed by 89409 people and 705 organisations.

Aware of Angels


501(c)3 Non-Profit Organization Raising awareness of all children with genetic/chromosome disorders, raising funds for needed research, connecting families, and assisting those children who still need a diagnosis.



Becoming Incurable

A feature length documentary that captures the struggles, triumphs and everyday lives of three people living with three drastically different, incurable chronic illnesses. This film hopes to raise awareness around chronic pain as well as emphasize the never-ending journey of living with an incurable illness. With support from the U.S. Pain Foundation as well as many other organizations, this film plans to reach audiences nation wide to help propel the chronic illness movement.



Child Neurology Foundation (CNF)

The Child Neurology Foundation (CNF) connects and collaborates with patients, families, physicians, health care providers, advocacy organizations, and industry partners–all of whom work together to help improve the lives of children with neurologic disorders and their families. CNF serves as a collaborative center of education and support for the child neurology community. It is estimated that over 3,000 genetic conditions affect the neurologic system – 75% of these conditions affect children. CNF knows that children and their families who live with rare conditions often feel isolated, we want to change isolation to empowerment.

Children’s Hospital of Wisconsin Undiagnosed and Rare Disease Program

There are many children with diseases that remain undiagnosed. Their symptoms don’t easily resemble common or known illnesses, so doctors are limited to treating those symptoms. Up to half the children in some clinics remain undiagnosed. Many of these families describe their experiences as a “diagnostic odyssey” as the search for the root cause continues, often going from doctor to doctor, or hospital to hospital.


Conscious Coconut

Conscious Coconut is a social enterprise fueled by love. Their fair trade, organic coconut oil is certified through Fair Trade USA, ensuring safe working conditions and just compensation for farmers and factory workers. Once their products arrive in the States, they are packaged by employed adults with developmental disabilities at the Macdonald Training Center in Tampa. Their travel-ready coconut oil is USDA Organic, Fair Trade Certified, Cold-Pressed, and Virgin, and is conveniently packaged to be TSA-approved.​ And for EVERY product sold, they donate a meal to a child through Feeding America food banks. ​They are committed to raising awareness for childhood hunger in the United States. Since their launch at Wanderlust Chicago 3 years ago, they have fed over ​100,000 kids through their one-to-one platform!

Cure CMD

Cure CMD was founded in 2008 to advance research for treatments and a cure for congenital muscular dystrophy (CMD and, through engagement and support of the CMD community, to also improve the lives of those living with CMD. To date, the organization has funded more than $2 million in research, launched an international patient registry with more than 2,500 registrants, assisted with genetic diagnosis, and connected more than 2,000 affected individuals and their families to a supportive, helpful community.  Visit for more information.


Cure Sanfilippo Foundation

Cure Sanfilippo Foundation is a 501(c)(3) organization dedicated to advocating for and funding research directed towards a cure and treatment options for patients with Sanfilippo Syndrome.  For more information about Cure Sanfilippo Foundation and Sanfilippo Syndrome, please visit


emedicalassistantseMedicalAssistants is a site that helps students who want to pursue medical assisting career. Authored by healthcare providers who have years of experience behind them, the site mainly provides information on medical assisting scholarships, career, training programs, certification and accredited schools across the nation.



Emory Genetics Laboratory

EGL Genetics 1 ligne v3EGL is a CAP-accredited and CLIA-certified diagnostic laboratory headquartered  in Atlanta, Georgia. Since its inception in 1970, EGL has become a global leader in providing genetic testing services to national and international clients through its fully integrated biochemical genetics, cytogenetics, and molecular genetics laboratories.

Epilepsy Association of Utah

The Epilepsy Association of Utah is a 501(c)(3) nonprofit organization whose mission is to provide support services for people living with epilepsy, educate the community about epilepsy and assist in raising funds for research. The Association holds several awareness events and fundraisers throughout the year as well as , educational conferences, support groups, a camp for teens with epilepsy. The EAU also offers complimentary Seizure Smart training, Medical Assistance and Transportation Assistance Programs as well as Political Advocacy.


The EveryLife Foundation for Rare Diseases

The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy. We can do more with the science we already have and bring life-saving treatments to millions of people suffering from rare diseases.

FDNA and Face2Gene

FDNA is the developer of Face2Gene, a suite of next-generation phenotyping applications that facilitates comprehensive and precise genetic evaluations. Face2Gene uses facial analysis, deep learning and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. With the world’s largest network of clinicians, labs and researchers creating one of the fastest growing and most comprehensive genomic databases, FDNA is changing the lives of patients with genetically caused diseases. For more information, visit Face2Gene is a registered trademark of FDNA INC.

The Genetic and Rare Diseases (GARD) Information Center

The Genetic and Rare Diseases (GARD) Information Center is a program of the National Center for Advancing Translational Sciences (NCATS) and funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy to understand information about rare or genetic diseases in English or Spanish. 

Tips for the Undiagnosed:

Helping Hands for GAND

Helping Hands for GAND is a 501(c)(3) nonprofit charity which exists to support individuals and families affected by GATAD2B-associated neurodevelopmental disorder (GAND), to increase awareness, and to work toward research and treatment opportunities to enrich the lives of those with this rare genetic condition.


GeneDx is a highly respected genetic testing company founded in 2000 by two scientists from the National Institutes of Health (NIH) to address the needs of patients and clinicians concerned with rare inherited disorders. GeneDx offers sequencing and deletion/duplication testing for neurological disorders including seizure disorders, mitochondrial disorders,inherited cancer and cardiac disorders, and other rare genetic disorders. GeneDx also offers whole exome sequencing, next-generation sequencing, microarray-based testing, targeted mutation testing and prenatal diagnostic services. At GeneDx, our technical services are matched by our scientific expertise and customer support. Our growing staff includes more than 100 geneticists and genetic counselors specializing in clinical genetics, molecular genetics, metabolic genetics and cytogenetics who are just a phone call or email away.




Global Genes

global genes

About Us

Global Genes™ is one of the leading rare disease patient advocacy organizations in the world. The non-profit organization promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. What began as a grassroots movement in 2009 , with just a few rare disease parent advocates and foundations , has since grown to over 500 global organizations.

Our Mission

To eliminate the challenges of rare disease by building awareness, and providing critical connections and resources to positively impact affected patients and families.


HopeKids provides HOPE for your family during your child’s medical journey. We provide free events and activities that help provide hope and transform lives. Our primary impact areas are community and supportive relationships, family focus, acceptance, economic support, and hope.





About HudsonAlpha: The HudsonAlpha Institute for Biotechnology is a genomic science and applications nonprofit organization. It is a high-volume genomic data producer serving thousands of academic, clinical and commercial clients’ needs. The Institute is a global scientific collaborator valued for its genomic data analysis and interpretation to solve some of the most pressing questions in cancer, undiagnosed childhood genetic disorders, neuropsychiatric disorders, immune-mediated disease, agriculture and public health. Its unique 152-acre campus melds the boundaries between nonprofit scientists, educators and entrepreneurs so that collaboration sparks innovation and growth.



Human and Molecular Genetics Center


The Human and Molecular Genetics Center at the Medical College of Wisconsin is one of the first diagnostic laboratories in the United States to offer Whole Genome Sequencing as a diagnostic test.  We are a world leader in next generation sequencing data generation and data analysis.  The HMGC basic and clinical scientists lead the efforts at the Medical College of Wisconsin to provide quality precision medicine and health care by enabling researchers and clinicians to use genome sequence to understand disease, improve diagnosis, and advance the treatment of our patients. Our CLIA-certified laboratory performs whole exome and whole genome sequencing, robust data analysis, and validation for precision diagnostics and therapeutics in pediatric and adult patients.

Institute of Genomic Medicine

gmedicine-logoWith the rapid accumulation of knowledge on the genetics of human diseases over the next few years, we will be ready to gradually translate this knowledge into characterization of individual patients in clinical settings.

We envision that Genomic Medicine will be an indispensable clinical tool for diagnosis and prognosis, and our efforts through IGM will significantly accelerate the public awareness and implementation of Genomic Medicine.

Jonah’s Just Begun Foundation

Jonah’s Just Begun Foundation to Cure Sanfilippo Inc. is a 501(c)3. The organization raises funds and then distributes them to academic researchers focused on Sanfilippo Type C. Their objectives include to first drive the science that will ultimately lead to a cure for Sanfilippo Type C and to raise awareness for all rare diseases. They also empower and encourage others affected by rare diseases to advocate for cures. Learn more

KromaTiD, Inc.

KromaTiD, Inc. provides proprietary products and services for discovering and detecting disease-related genomic structural variations. One of our technologies, Directional Genomic Hybridization™ (dGH), is a unique method for discovering and detecting structural variation in undiagnosed disease patients. In mid-2018, we’re launching a research study to use our whole-genome dGH to screen undiagnosed patients for potential diagnostic targets. If you would like to learn more, please contact us at [email protected].

Luka The Lion Foundation

LukatheLion_logo1To honor Luka’s spirit and support kids with rare disease and their family so nobody ever feels alone, Julia Fisher founded the LukaThe Lion Foundation with her husband, Zach Fisher, a dedicated team of Board of Directors, and The Pride of supporters. Through her efforts in the rare and undiagnosed disease community, Julia is honored to serve kids with rare diseases and their families through the Luka The Lion Foundation and through her involvement with the Rare + Undiagnosed Network (RUN) Advisory Board, Global Genes RARE Foundation Alliance, and the NC Rare Disease Coalition.   LukaThe Lion Foundation


Lineagen’s mission is to accelerate and enhance the diagnostic evaluation of medical conditions so that the best possible outcomes can be achieved for patients and their families. Lineagen offers FirstStepDx PLUS a customized genetic testing service for individuals with autism spectrum disorder (ASD) and other disorders of childhood development plus a portfolio of scientific programs in ASD, multiple sclerosis (MS), and chronic obstructive pulmonary disease (COPD).


National Ability Center (NAC)

The National Ability Center empowers individuals of all abilities by building self-esteem, confidence and lifetime skills through sport, recreation and educational programs. The National Organization for Rare Disorders (NORD), a 501(c)(3) organization, is the leading voice of the rare disease community. We are a unique federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them. For more than 30 years, we have been committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

The National Institutes of Health (NIH)

NIH The National Institutes of HealthThe National Institutes of Health (NIH), a part of the U.S Department of Health and Human Services, is the nation’s medical research agency—making important discoveries that improve health and save lives.

NIH’s mission is to seek fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to enhance health, lengthen life, and reduce illness and disability.

Nicholas Volker One in a Billion Foundation

obf-logo-1-bOur Mission is to inspire the world to improve the quality of life for those with undiagnosed and rare disease by advancing the practice of personalized and genomic medicine.

National Organization for Rare Disorders (NORD)

The National Organization for Rare Disorders (NORD), a 501(c)(3) organization, is the leading voice of the rare disease community. We are a unique federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them. For more than 30 years, we have been committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.



MaxifyLife is dedicated to providing access to safe, high quality products that improve overall health & wellness; while simultaneously supporting the efforts of advocates and organizations dedicated to serving rare disease communities and the development of medical treatments for rare conditions. While life can be cruel; it is also beautiful. We believe in amplifying the beauty of life through the pursuit towards wellness. All of us at MaxifyLife encourage you to join us and LIVE LIFE TO THE MAX.

Miracle Flights

Miracle Flights provides individuals and families free medical flights to distant, specialized care and valuable second opinions. We have a #curefordistance. To learn more or to request assistance with a flight, please visit or call 1-800-359-1711.




logos_no_circles_MyGene2squareMyGene2  is a free, public, searchable site developed for families with rare genetic conditions to share health information (e.g., clinical findings) and genetic data (e.g., candidate genes, DNA sequence data) with other families, clinicians and researchers. Clinicians and researchers can share de-identified health and candidate gene/variant information on behalf of families with rare genetic conditions. Information on each family is organized into a “Profile.” Family profiles submitted by users all over the world are stored in one place, access to them is quick, and candidate genes in all profiles are searched automatically for matches each time a new profile is created. Users with the same candidate gene are notified automatically and immediately, and these matches are also publicly posted. By creating a MyGene2 profile and sharing information, families can make their information discoverable by researchers, clinicians, and other families who are interested in their genetic condition. This has the potential to lead to the discovery of an undiagnosed condition, to better understanding of an already-diagnosed condition, and new connections with other families who may have the same condition.


OxThera is a biopharmaceutical company based out of Stockholm, Sweden, working to improve the lives of those with Primary Hyperoxaluria (PH). Our experimental drug, Oxabact®, is not yet approved, but has Orphan Drug designations in both the United States and Europe in treating the disease PH. We are performing a clinical trial, ePHex, to study the long-term efficacy and safety of our drug, Oxabact®, in those with Primary Hyperoxaluria (PH). Patients may be eligible if they have been diagnosed with PH, and meet the kidney function and plasma oxalate criteria. Qualified patients willing to participate will undergo a 52-week study. For more information, please visit:

Patient Services Incorporated (PSI)

Patient Services Incorporated is a national 501 (c)(3) non-profit organization. Founded by a patient, for patients, our mission is to help chronically ill patients with unaffordable medical expenses. We remain an independent charity with a passion for helping and advocating for those in need. We offer financial support, health insurance premiums and copayments, for a variety of chronic illnesses and have been dedicated to this mission for nearly 30 years.

Patient Worthy®

Patient Worthy® is an online publication that provides relevant information to rare disease patients, caregivers and advocates alike.

Through education, awareness and a touch of humor, our goal is to inspire those in the rare disease community to tackle their chronic conditions, armed with the knowledge that they are not alone in their fight. We root for new treatment options, support spreading awareness and encourage the occasionally tough conversation.

Here at Patient Worthy, if we are not learning to live with a chronic illness or rare disease ourselves, we are loving or working with someone who is. It is through this perspective, research and our passion for rare disease awareness that we bring you Rare Patient News. Well Done.®



Our Mission

Establish and develop partnerships dedicated to educational excellence and research in order to drastically increase the academic achievement of students in historically disenfranchised environments throughout the world. Current projects are making a difference with students in post-apartheid South Africa.

The Progeria Research Foundation (PRF)

The Progeria Research Foundation (PRF) was founded in 1999 by the family of Sam Berns in response to the complete lack of attention to, and progress being made in, Progeria research. The original mission: to discover the cause, treatments and cure for Progeria. In 2003 the PRF Genetics Consortium discovered the Progeria gene, a collaboration led by Dr. Francis Collins, then Director of the National Human Genome Research Institute, and who is currently Director of the National Institutes of Health (NIH). Today, PRF continues to be the only organization in the world solely dedicated to finding treatments and the cure for Progeria and its aging-related conditions, including heart disease. The organization fills a void, taking these children out of the background where they had been for more than 100 years and putting them and Progeria at the forefront of scientific efforts. For more information and to donate to PRF, please visit

Rare Advocacy Movement (RAM)

The Rare Advocacy Movement (RAM) is a patient advocacy initiative focused on documenting the ever evolving complex structure and unique dynamics of the rare disease patient advocacy landscape. RAM is a cultural awakening initiated by seasoned advocacy leaders that have vowed to remain transparent, clarify misunderstandings and to ensure that the rare disease community is not overlooked, ignored or misrepresented.


Rare Disease Legislative Advocates

rdla-blueRare Disease Legislative Advocates is a program of the EveryLife Foundation for Rare Diseases designed to support the advocacy of all rare disease patients and organizations. By growing the patient advocacy community and working collectively, we can amplify our many voices to ensure that rare disease patients are heard in state and federal government.

Rare Genomes Project

The Rare Genomes Project is a research study housed at The Broad Institute of MIT and Harvard, a non-profit academic research institution focused on using genomic data to better understand human health and disease. Our team has a specific focus on understanding the genetic basis of very rare and undiagnosed childhood-onset conditions. Our mission in the Rare Genomes Project is to partner directly with patients, families, advocates, and clinicians like you, to speed the rate of rare disease diagnosis and increase patients’ access to genomic research. Interested families can visit to learn more about the project, and click “Count Me In” to sign up.

Rare Genomics Institute

RGI logoRGI is an international non-profit that provides access to cutting edge research technologies, physicians, and scientists across the globe. By providing an expert network and an online crowdfunding mechanism, RGI helps families pursue personalized research projects in diseases not otherwise studied.




Recursion Pharmaceuticals

recursion pharma - rare undiagnosed network

We combine innovative biological science with advanced computational algorithms to discover new therapeutic opportunities for rare genetic diseases.



All of us will be patients or caregivers at some point in our lives. And when that happens, we enter a confusing, complex healthcare system that has been built around many priorities besides patient needs and wishes. Rx4good works with companies, government, academia and nonprofits, and view all our clients as partners engaged in a mutual effort to improve the lives of the patients we all serve.

Scripps Translational Science Institute

At the Scripps Translational Science Institute (STSI) we are focused on an individualized approach to medicine. Currently, we are investigating rare and severe undiagnosed diseases in STSI’s newest project known as Idiopathic Diseases of Man (IDIOM). Through the use of whole genome sequencing, we aim to discover genetic variants underlying diseases that remain undiagnosed despite ongoing care and follow-up by a physician. Ultimately, we hope to identify viable treatment options for these patients. While this approach has proven successful in a small number of pediatric cases, applications of whole genome sequencing for medical purposes is in its infancy. To our knowledge, this is the first study to apply this approach to both adult and pediatric patient populations. By exploring genetic variants in patients with idiopathic diseases, we aim to gain insight into treatment options for such conditions and advance medical knowledge about rare and common diseases.

Smith Family Clinic

Smith Family Clinic The Smith Family Clinic for Genomic Medicine has been established to use whole genome sequencing to diagnose rare, undiagnosed and misdiagnosed disease. Patients will be seen by a clinical geneticist who will evaluate symptoms, or patient phenotype, and determine whether whole genome sequencing is an appropriate test. The data from the genomic sequence is then interpreted clinically to identify variants, or changes in the DNA, linked to the disease. By using the power of genomics, we can solve cases of undiagnosed disease and provide answers to families and physicians. The clinic’s mission is not only to help find answers, but also to give patients the best clinical care and a positive medical experience.

Some 1 Like You (S1LY)

OUR MISSION, Buy 1 Give 1
Some 1 Like You L3C was founded out of the need to privately connect individuals with health conditions, regardless if they have received a diagnosis or the severity of their symptoms.

STXBP1 Foundation

The STXBP1 Foundation is a parent run not for profit organization that provides money to the fund for pursuits that will benefit research. Comprised of a diverse team of families and their supports, scientists and medical professionals dedicated to ending STXBP1 Epileptic Encephalopathy. In fostering partnerships with physicians, researchers, and other foundations, we share learnings and efficiencies to increase awareness of this rare, genetic disorder and accelerate the time to finding a cure. We believe that through our work, we are leading the charge towards improved therapies and ultimately ending STXBP1 Encephalopathy. Our International STXBP1 Family has grown tremendously to 300+ united and strong and we will only continue to grow our numbers as other families have access to genetic testing. As an organization we strive to create awareness in the disorders associated with STXBP1 mutations, fund research to accelerate discovery of a cure, provide families with tools to help them understand the disease & how to get involved, advocate to improve early detection, foster activism to help change policies in favor of orphaned diseases, and improve the lives of our STXBP1 Family.


SWAN-LogoSyndromes Without A Name USA (SWAN USA) is a non-profit tax exempt organization that offers support, information and advice to families of children living with a syndrome without a name. They are often described in many different ways such as; undiagnosed syndrome, unknown diagnosis, mystery diagnosis


The Mighty

the-mighty-logoThe Mighty is a story-based health community focused on improving the lives of people facing disease, disorder, mental illness and disability. More than half of Americans are facing serious health conditions or medical issues. They want more than information. They want to be inspired. The Mighty publishes real stories about real people facing real challenges.


UDN (Undiagnosed Diseases Network)

UDN Undiagnosed Diseases NetworkUDN (Undiagnosed Diseases Network)

With advances in genomic sequencing and medicine, it is now possible to examine patients with rare genetic diseases at a level that allows physicians and scientists to find the “needle in a haystack”. Often times, one small change (mutation) in a genetic sequence can cause an individual to develop disease symptoms. To increase the capacity for this type of research, an Undiagnosed Diseases Network (UDN) is being established across the country to diagnose both rare and new diseases. Furthermore, through the support of mechanistic studies, the Network hopes to aid in management strategies for the patients. This program will advance laboratory and clinical research, building upon the experience and expertise of the NIH Intramural Undiagnosed Diseases Program (UDP) and similar programs, to enhance coordination and collaboration.


The UDN Participant Engagement and Empowerment Resource (PEER) is made up of participants and family members who have participated in the UDN. PEER members work with UDN researchers to improve the participant experience, connect families with each other, and share the UDN with others. To learn more about PEER and find out how to join, please email [email protected]

Undiagnosed Film

Undiagnosed is the untold story of the millions of people whose lives have been devastated due to unknown or unsolved illnesses. What understanding more about the predicament of children and adults in this difficult situation could offer to the future of medicine is astounding, yet this population remains virtually ignored. These people exist as medical refugees in a modern health care system, living in a constant state of unknown. Research and professional opinions combine with gripping stories into an incredible narrative that showcases the strength of the human spirit and the need for change in our medical system.

U.R. Our Hope


U.R. Our Hope is a registered 501 (c)(3) non-profit organization that assists individuals and their families on their journey to diagnosis,or helps them navigate the healthcare system with a rare diagnosis. Our mission is to serve individuals with undiagnosed and rare disorders through education, advocacy, and support in order to bring hope through knowledge, empowerment, and healing. We assist families in the Austin area, and throughout Texas, the United States and beyond. With the medical advancements and technology available to us today, it is hard to believe that anyone could live without a diagnosis, but this is a reality faced by many of our families and countless others across the world. There are currently over 7,000 rare disease and the average journey to diagnosis is SEVEN YEARS!! Many of these disease are rapidly progressing and some individuals cannot afford to wait seven years. Sadly, many children do not live to see their 5th birthday and their families are left struggling for answers and fear of the future for other children. It is imperative that we help these families find answers quickly and efficiently.

Utah Foundation for Biomedical Research

utahresearch-logoThe Utah Foundation for Biomedical Research is dedicated to discovering the genetic underpinnings of chronic diseases and advancing the field of genomic medicine.




Utah Rare

Utah Rare is a coalition of rare disease stakeholders formed to organize Utah’s recognition and support of our Rare Community.