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.
The 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 Goldacre, BMJ, Centre for Evidence-based Medicine, Cochrane Collaboration, James Lind Initiative, PLOS and Sense about Science and is being led in the US by Sense About Science USA, Dartmouth’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.
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.
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.
eMedicalAssistants 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.
EGL 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. www.geneticslab.emory.edu
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 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.
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. www.rarediseases.info.nih.gov
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™ 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.
To eliminate the challenges of rare disease by building awareness, and providing critical connections and resources to positively impact affected patients and families.
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.
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.
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.
With 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.
To 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.
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).
Our 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.
The 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.
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.
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.®
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.
Rare 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. www.rareadvocates.org
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 www.raregenomes.org to learn more about the project, and click “Count Me In” to sign up.
RGI 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.
We combine innovative biological science with advanced computational algorithms to discover new therapeutic opportunities for rare genetic diseases.
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.
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.
Syndromes 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 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)
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.
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 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. www.urourhope.org