For help in finding out about genetic and rare diseases, The Genetic and Rare Diseases (GARD) Information Center from the National Institutes of Health is the place to start:
The Genetic and Rare Diseases (GARD) Information Center is a program of the National Center for Advancing Translational Sciences . . . . The GARD Information Center provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Visit the ABOUT GARD page which has guidance on how to start your search for information:
Where should I start my search for information on a rare or genetic disease?
Visit the Diseases section of our site to search for a disease. Each disease has its own Web page [Emphasis Added], where Information Specialists post the answers to questions GARD has received.
Check the GARD Web pages for the following and more:
- Questions answered by GARD Information Specialists.
- Links to resources where you can find more information.
- Information about genetic testing and genetic services.
- Scientific conferences that have been sponsored by NIH.
- Organizations that provide information and support.
- Information about research studies and clinical trials.
- FDA-approved medications for rare diseases.
As noted above, each disease has its own web page. To find the web page for your disease, go to Diseases and type the name of the disease you are interested in into the search box. Alternatively, you can browse diseases by first letter or number on the Diseases page. You can also browse Diseases by Category.
So here is an example of how you would start your research on a very rare disease: Limb Girdle Dystrophy (See my post 2014 American Academy of Neurology Guidelines for Dx + Rx of Limb-Girdle and Distal Dystrophy of Oct 28, 2015).
A friend told me that he had recently been diagnosed with Limb Girdle Dystrophy and his neurologist had a plan of treatment. It was for my friend that I wrote the post.
Here is how he could learn more about his rare disease and learn if there are centers of excellence that have great experience with the disease and learn if there are any clinical trials for his disease.
So I go to the Diseases page and type “limb girdle dystrophy” into the search box. And I am taken to Disease Search Result for this term. And on this page there is a long list of diseases that include my search term. And I find that the preferred term is limb girdle muscular dystrophy. When I click on the term limb girdle muscular dystrophy on the Disease Search Result page, I am taken to GARD web page for this disease.
The GARD web page for Limb Girdle Muscular Dystrophy has a number of outstanding resources so that one can learn more about the disease.