Skip to main content

Rare Disease Day 2017



Diagnosing diseases is a tricky business requiring a formidable breadth and depth of knowledge and the skill to apply that knowledge. Patient diagnosis becomes even more difficult for rare diseases: quality reference data may not exist and a physician might only see one such patient in her entire career. According to the National Institutes of Health, there are between 6,000 and 7,000 rare diseases affecting from 25 to 30 million Americans, making it likely that most, if not all, health care professionals have seen these patients in their practice but may not have known it. Oftentimes, a patient with a rare disease gets misdiagnosed as having a more common disease with a similar set of symptoms. In such cases, the misdiagnosis can lead to ineffective, or even harmful treatment; this is a danger even for patients who have rarer forms of a common disease.

Next Tuesday is Rare Disease Day, a day devoted to raising awareness of rare diseases, learning from the patients and families living with these diseases, and promoting the research that is being done to find treatments.

What is a rare disease?
A disease is considered rare if it affects fewer than 1 in 200,000 people in the US, or fewer than 1 in 2,000 people in Europe. The more than 6,000 known rare diseases range from several kinds of cancer, to neurological, skin disorders, and diseases affecting the lungs. According to the Orphanet, a portal for rare diseases, most of these have no cure. Of the known rare diseases, about 80% have an established genetic cause, while the remaining 20% are thought to be caused by environmental factors, like infections. Approximately half of the people with a rare disease are children.


What is Rare Disease Day?

Rare Disease Day began in 2008 in Europe by EURORDIS and the Council of National Alliances as a day to raise awareness about rare diseases and the people living with them. The day also raises awareness for policy makers and health professionals. It occurs on the last day of February, which is Tuesday the 28th this year. Rare Disease Day has grown since its inception: last year there were events in 84 countries.

What are some important issues affecting people with rare diseases?

One of the largest problems facing patients living with rare diseases is a delay in diagnosis. From the time a patient with a rare disease first sees a doctor to the time of correct diagnosis averages 4.8 years, but can take up to 20 years. During this time, on average, the patient will see more than 7 physicians. There are several reasons why this diagnosis can take so long.

Rare diseases are, by definition, rare, meaning that a particular doctor may have never seen a similar patient before. In this situation, the patient might leave the doctor without a diagnosis, or be sent to another physician’s office to aid in the diagnosis.

To further complicate diagnosis, many rare diseases have symptoms that are similar to those associated with a more common disease, so misdiagnosis is very common among these patients.

Also, symptoms of the same rare disease can present themselves in different ways in different patients, leading to confusion. These misdiagnosis can be costly, potentially harmful, and frustrating for the patients and their families.

Sometimes a physician will correctly identify the rare disease, only to inform the patient that there is no cure for the disease, or there is an incomplete treatment.

Rare diseases pose a public health problem: each rare disease may be uncommon, but rare diseases combined affect a large population of patients, their families, and their caregivers.


This year is the 10th Rare Disease Day and has a special theme of research. The slogan, with research, possibilities are limitless, focuses on the important role that research plays in diagnosing and treating rare diseases. Researchers studying rare diseases can increase knowledge of how a particular disease occurs, which parts of the body are affected, or how the disease could be treated. This information could directly impact a patient’s life by improving diagnosis rate and increasing treatment options. Further, researching rare diseases can also provide insights into more common diseases. The Rare Disease Day press release highlights this point by saying: “Research is key. It brings hope to the millions of people living with a rare disease across the world and their families.”

Rare Disease Day shines a light on the need for international collaboration between researchers and clinicians. Since there are so few patients with a particular rare disease, increasing communication around the world can link these isolated patients together, building a support system and increasing knowledge about their shared disease. “Rare Disease Day 2017 is therefore an opportunity to call upon researchers, universities, students, companies, policy makers and clinicians to do more research and to make them aware of the importance of research for the rare disease community.” - Rare Disease Day press release


I recommend watching the 2017 Rare Disease Day video (http://www.rarediseaseday.org/videos) and learning more about individuals living with rare diseases by reading their stories here: http://www.rarediseaseday.org/news.


Monarch Initiative members recently attended the IRDiRC – International Rare Diseases Research Consortium (pictured below), and you can read more about this important conference here.




Sources and more information:

Rarediseaseday.org

http://www.orpha.net

Rarediseases.info.nih.gov

http://www.eurordis.org/

http://www.rarediseaseday.org/national-alliances

http://rarediseaseday.us/wp-content/uploads/2011/11/RDD-FAQ-2013.pdf

www.rarediseaseday.org/page/news/2017-theme-research

https://globalgenes.org/raredaily/accurate-diagnosis-of-rare-diseases-remains-difficult-despite-strong-physician-interest

http://www.irdirc.org/the-3rd-irdirc-conference-working-towards-new-rare-disease-research-goals-for-the-next-decade/

Popular posts from this blog

Finally, a medical terminology that patients, doctors, and machines can all understand.

By Nicole Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Chris Mungall, Peter Robinson, Sebastian Köhler, Melissa Haendel
For many patients with rare and undiagnosed diseases, getting an accurate diagnosis, or even finding the appropriate experts is a long and winding road. To accelerate and facilitate this process, we developed a medical vocabulary (“HPO”) which is comprised of 12,000 terms that doctors can use to codify the precise and distinct observations about patients and their conditions. The HPO is structured in a way that enables machines to intelligently compare a patient’s profile with what scientists worldwide have already uncovered about diseases and their genetic causes.
Until now, most of the HPO labels and synonyms were composed of clinical terms unfamiliar to patients. For example, a patient may know they are ‘color-blind’, but may not be familiar with the clinical term ‘Dyschromatopsia’. This is why we developed a layer of 5,000 corresponding terms that can b…

Why cross-species phenomics informatics is critical to the PMI

Genomics, electronic health records, participant-provided data, sensors, and mobile health technologies can all contribute to personalized medicine. However, we currently cannot achieve statistical correlations amongst these almost unlimited number of parameters that will be collected by the PMI and the depth of mechanistic understanding that will be required for treatment stratification and the development of novel, targeted therapies. The promise of personalized medicine requires deep knowledge of the relationships between genotype, phenotype, and environmental variables - but we simply don’t have enough data. For example, in the ExAC database there are 3,230 genes with near-complete depletion of predicted protein-truncating variants, where 72% of these genes having no currently established human disease phenotype. If we look across organisms, we see that of these 2311 genes with unknown causal phenotypes/diseases, 88% have an associated phenotype in an ortholog, with 56% having or…

Save the Date: Symposium on Linking Disease Model Phenotypes to Human Conditions

Monarch is co-hosting a NIH Symposium titled “Linking Disease Model Phenotypes to Human Conditions” on September 10-11, 2015 at the Fishers Lane Auditorium, NIH, Rockville, MD. 
The purpose of the meeting is to convene a colloquium on the current status of Phenomics and its role in closing the gap that exists between biomedical research and clinical medical practice. The wealth of whole organism, cellular, and molecular data generated in the research laboratory must be translated into clinically relevant knowledge that enables the physician to make the best possible treatment decisions. Phenomics is gaining momentum due to the availability of the complete genomes for many organisms as well as higher throughput methods to genetically modify model organism genomes and observe and record phenotypes. Disease models comprise some of the most important tools of biomedical research. The efficacy of the use of disease models is based upon the principles of evolutionary conservation between sp…