Each contact with a human being is so rare, so precious, one should preserve it - Anais Nin
image by: Chadica
"In the late 1940s, a professor at the University of Maryland School of Medicine coined an unusual phrase to describe unexpected diagnoses. “When you hear hoofbeats behind you, don’t expect to see a zebra,” he said. The phrase stuck and today, medics commonly use the term “zebra” to describe a rare disease, usually defined as one that occurs in less than 1 in 2000 of the population.
Rare diseases are inherently hard to diagnose. According to the European Organisation for Rare Disease, 25 per cent of diagnoses are delayed by between 5 and 30 years.
So it’s no surprise that medics are looking for more effective ways to do the job. An increasingly common aid in this process is the search engine, typically Google. This forms part of an iterative process in which a medic enter symptoms into a search engine, examines lists of potential diseases and then looks for further evidence of symptoms in the patient.
The problem, of course, is that common-or-garden search engines are not optimised for this process. Google, for example, considers pages important if they are linked to by other important pages, the basis of its famous PageRank algorithm. However, rare diseases by definition are unlikely to have a high profile on the web. What’s more, searches are likely to be plagued with returns from all sorts of irrelevant sources.
Today, Radu Dragusin at the Technical University of Denmark and a few pals unveil an alternative. These guys have set up a bespoke search engine dedicated to the diagnosis of rare diseases called FindZebra, a name based on the common medical slang for a rare disease. After comparing the results from this engine against the same searches on Google, they show that it is significantly better at returning relevant results.
The magic sauce in FindZebra is the index it uses to hunt for results. These guys have created this index by crawling a specially selected set of curated databases on rare diseases. These include the Online Mendelian Inheritance in Man database, the Genetic and Rare Diseases Information Center and Orphanet.
They then use the open source information retrieval tool Indri to search this index via a website with a conventional search engine interface. The result is FindZebra.
Finally, they compared the results of searches on FindZebra against the same search on Google applied to the same limited dataset, a feature that is possible with advanced Google searches. Dragusin and co say that the Google results are significantly worse than their own.
For example, on FindZebra the search query “Boy, normal birth, deformity of both big toes (missing joint), quick development of bone tumor near spine and osteogenesis at biopsy” returns the correct diagnosis “Fibrodysplasia ossificans progressiva” as the first result. However, this diagnosis does not appear at all in the results from any type of Google search.
This indicates that the PageRank algorithm, or at least the way Google has tweaked it, is not suited to this kind of search. “Our finding, that FindZebra outperforms Google overall for this task and especially when restricted to the sites of our collection (Google Restricted), suggests that Google ranking algorithm is suboptimal for the task at hand,” they conclude.
Although still a research project, Dragusin and co have made their rare disease search engine publicly available at www.findzebra.com. This could clearly become a valuable tool for the medical community.
What is less clear, however, is how this tool will be used by the general public. The site comes with the forlorn message: “Warning! FindZebra is a research project and it is to be used only by medical professionals” .
FindZebra could obviously be a hypochondriac’s charter. On the other hand, that’s true of any medical dictionary.
The informed public are increasingly visiting their doctors armed with detailed information downloaded form the internet. Any move to improve the quality of this information must surely be of significant value." Source: The Rare Disease Search Engine That Outperforms Google, MIT Technology Review, March 18, 2013.
CrowdMed is revolutionizing healthcare by harnessing ‘the wisdom of crowds’ to help solve even the world’s most difficult medical cases quickly and accurately online. After 4 years of development and refinement, CrowdMed’s patented prediction market technology can suggest diagnoses to real-world medical cases that have stumped doctors for years.
The search engine for difficult medical cases.
Medify has developed powerful technology to mine millions of these studies every day in order to “extract” key information about the patients in each study. Similar patients across studies are combined and their experiences organized around the topics you care about: conditions, treatments, experts, and hot research issues. The result is quite possibly the largest database of real patient experiences - literally hundreds of millions of them - free and available to search online, often down to the finest, and most relevant detail.
The Answers You’ve Been Looking For: Personalized Medical Research.
National Organization for Rare Diseases
NORD is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.
Rare Disease Day
Whether you are with your family at home, 10 people in an office, 100 people at a conference or 1000 people at a public gathering: RAISE AND JOIN YOUR HANDS to show your solidarity with rare disease patients around the world!
RareShare is a unique social hub building communities for patients, families, and healthcare professionals affected by rare disorders.
The Internet's leading resources for Evidence-Based Medicine. Allowing users to rapidly identify the highest quality clinical evidence for clinical practice.
AutoimmuneMom.com was born out of a frustration with a lack of online information about autoimmune conditions beyond the surface-level articles and blog posts, even on the top health websites. Believing there must be a way to develop content that dug into current research and examined deeper questions, the planning for the site began.
And because moms are amazing resources for all things related to their kids, why not also create a way for them to help each other find new ideas for managing their autoimmune issues? After all, women are the majority of people affected by autoimmune, and many of us are moms.
The mission of ButYouDontLookSick.com is to help everyone with a chronic illness or invisible disability, in order for them to live their lives to the fullest and not feel isolated and alone. We believe that our medical circumstances have put us in a unique and understanding position, so that we can help each other through similar difficult times.
EURORDIS is a non-governmental patient-driven alliance of patient organisations representing 561 rare disease patient organisations in 51 countries.
We are the voice of 30 million people affected by rare diseases throughout Europe.
Genetic and Rare Conditions Site
Lay advocacy and support groups, information on genetic conditions and birth defects for professionals, educators, and individuals, National and International organizations.
A growing pool of information gathered from experiences of others.
List of rare diseases.
The ICORD (International Conferences for Rare Diseases and Orphan Drugs) Society was formed on September 13, 2007 in Brussels. Its mission is to improve the welfare of patients with rare diseases and their families world-wide through better knowledge, research, care, information, education and awareness.
So what is your visible hope? We are collecting your images, photos, illustrations, of things that bring you hope! Sometimes hope can be hard to understand, because we cannot see it. But perhaps we can try to show others the images in our life that help us feel hopeful even when dealing with chronic illness or pain. nvisibleIllnessWeek.com
m-PowerÂ® Rare Pediatric Disease Database
Rare pediatric diseases are not as rare as you think. You are not alone. In our experience, we've found that other medical sources provide information that is either difficult for parents to understand or is outdated. The entries in our database are updated frequently and compiled with you in mind. We also have a glossary of medical terms to help you understand the information.
Malaysian Rare Disorders Society
MRDS is a voluntary organisation set-up to represent and look out for the welfare of individuals including their families that are affected by rare disorders.
Search over 10,000 symptoms, 2100+ diagnoses, 5000+ drugs, and 6,000+ procedures Personalized medical search by doctors for everyone (for informational purposes only). All the data has been entered by physicians. We are still in BETA and continuously updating the database
Founded in 1994 out of a shared need for better medical information and support, MedHelp is the pioneer in online health communities. The MedHelp site connects people with the leading medical experts and others who have similar experiences.
This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health-related quality of life. No common underlying medical condition or infectious source was identified, similar to more commonly recognized conditions such as delusional infestation.
NET Cancer Day
Raising awareness of neuroendocrine cancers around the world.
NET Patient Foundation
Around 2,000 people are diagnosed as NETs every year, and through the Foundation we aim to promote a wider knowledge of the disease amongst the general population
Office of Rare Diseases Research
The goals of ORDR are to identify, stimulate, coordinate and support research to respond to the needs of patients who have any one of the approximately 7,000 rare diseases known today. To leverage its resources, ORDR fosters collaboration nationally and internationally.
Making healthcare better for everyone through sharing, support, and research.
Rare Bone Disease Patient Network
The Rare Bone Disease Patient Network is a coalition of rare bone disease organizations, established to share information, expertise and resources, in a collaborative effort to increase awareness, understanding, and research of rare bone disorders.
Rare Disease UK
RDUK is the national alliance for people with rare diseases and all who support them. It was established by Genetic Alliance UK, the national charity of over 160 patient organisations supporting all those affected by genetic conditions, in conjunction with other key stakeholders in November 2008.
Rare Disorders Society
Individuals with rare diseases form a minority of our society and receive little or no attention.
Rare Diseases Society (Singapore)is a non-profit organization initiated by parents of children with LSD (Lysosomal Storage Disorder}. Established in 2011, it aims to create awareness about various life threatening rare diseases (RD).
The National Registry of Rare Kidney Diseases (RaDaR) is an initiative by UK kidney specialists (the Renal Association). It is designed to pull together information from patients who have certain rare kidney diseases. This will give a much better understanding of how these illnesses affect people. It will also speed up research.
Swedish Information Centre for Rare Diseases
In the database for rare diseases of the Swedish National Board of Health and Welfare you can find information about diseases or disorders which affect fewer than 100 people per million, and which lead to a marked degree of disability.
The NET Community
Information, support, and insights for people affected by neuroendocrine tumors.
There are many places on the internet that can help you discover why you might have certain medical symptoms. The great thing about using the internet in this way is that you can educate yourself more about symptoms, home remedies, allergic reactions and much more. The danger in using the internet to self-diagnose is that if you are not a medical professional, you risk misdiagnosis and could potentially hurt yourself or cause additional suffering.
A rare disease is technically defined as a disease that is found in fewer than 5 people per every 10,000 people.
Willis-Ekbom Disease Foundation
Since its inception, the Foundation has been working tirelessly to increase awareness of this disease, previously known as restless leg syndrome, by raising its profile and educating the public and medical communities alike.