Rare Conditions
Each contact with a human being is so rare, so precious, one should preserve it - Anais Nin
image by: Chadica
HWN Recommends
The Rare Disease Search Engine That Outperforms Google
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…
Resources
When the Illness Is a Mystery, Patients Turn to These Detectives
The Undiagnosed Diseases Network takes on the toughest cases, patients whose symptoms have defied explanation.
RareGuru
There are 400 million people living with 7,000 rare diseases, disorders, and syndromes in 195 countries. RareGuru is the one App that connects them all.
Undiagnosed Diseases Network
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. Through this study, we hope to both help individual patients and families living with the burden of undiagnosed diseases, and contribute to the understanding of how the human body works.
CrowdMed
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.
FindZebra
The search engine for difficult medical cases.
RareShare
RareShare is a unique social hub building communities for patients, families, and healthcare professionals affected by rare disorders.
Crowd diagnosis could spot rare diseases doctors miss
Diagnosing rare illnesses could get easier, thanks to new web-based tools that pool information from a wide variety of sources.
How Brave New World Is Sneaking Up On Us
GMO Sapiens: the Life-Changing Science of Designer Babies provides a comprehensive overview of the state of the art science, and what headline-grabbing breakthroughs we can expect in the very near future...
How Genome Sequencing Creates Communities Around Rare Disorders
By identifying the gene behind a mysterious debilitating condition, researchers can define a rare disease and transform a patient’s life.
Social Media Is A Lifeline For Patients With Rare Diseases
I’m happy we all have more internet resources, such as disease specific support groups. Researchers are increasingly turning to these advocacy groups in their search for clinical trial participants. Perhaps most importantly, patients with rare diseases can find tips, companionship, and support from others.
What Rare Disorder Is Hiding in Your DNA?
As comprehensive genetic tests become more widespread, patients and experts mull how to deal with unexpected findings.
The Rare Disease Search Engine That Outperforms Google
A powerful new search engine designed to help diagnose rare diseases could prove a boon for both medics and the public.
17 Things You’ll Only Understand If You Have A Rare Disease
Sometimes it isn’t so great being one in a million.
BioNews
BioNews Services is a leading online health, science and research publication company that exists for one purpose: to serve the patient living with a rare disease. We do this by connecting them with current, trusted, relevant news and information. Delivered daily.
Orphanet
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.
RareConnect
A safe, easy to use platform where rare disease patients, families and patient organizations can develop online communities and conversations across continents and languages. RareConnect partners with the world's leading rare disease patient groups to offer global online communities allowing people to connect around issues which affect them while living with a rare disease.
EURORDIS
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.
Forgotten Diseases Research Foundation
The Forgotten Diseases Research Foundation is a 501c(3) non-profit organization. We opened our doors in early 2012. We have a free online tool that will help people get a diagnosis for rare and very rare disesases.
GARD
The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is 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.
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.
Global Genes
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®.
HealthUnlocked
A growing pool of information gathered from experiences of others.
HON Dossier
List of rare diseases.
MedHelp
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.
NORD
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.
Rare Bone Disease Alliance
The Rare Bone Disease Alliance, originally created in 2006 as a patient advocacy network and called the Rare Bone Disease Network, has grown into a strong coalition focused on educating medical professionals, expanding research, and assisting patients and communities affected by rare bone diseases.
Rare Daily
News and commentaries including patient stories provided by Global Genes, a leading rare disease patient advocacy organization.
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!
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).
RareRenal
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.
RudyStudy.org
Rudy is a study in Rare diseases of the bones, joints and blood vessels. Headed up by a research team at the University of Oxford, Rudy aims to transform clinical care for participants through patient driven research.
ButYouDontLookSick.com
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.
International Conferences for Rare Diseases and Orphan Drugs
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.
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.
PatientsLikeMe
Making healthcare better for everyone through sharing, support, and research.
InvisibleIllnessWeek.com
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
YourDiagnosis.com
Your Free Online Medical Diagnosis & Symptoms Analysis Tool.
Rare Disease Report
Providing breaking news, patient stories and FDA updates, specific to those within the rare disease community.
Introducing Stitches!
Your Path to Meaningful Connections in the World of Health and Medicine
Connect, Collaborate, and Engage!
Coming Soon - Stitches, the innovative chat app from the creators of HWN. Join meaningful conversations on health and medical topics. Share text, images, and videos seamlessly. Connect directly within HWN's topic pages and articles.
