SEARCH TIPS | WHAT IS THIS? (example searches: cerebellum, "pulvinar nucleus", gene:grm1)
The National Human Genome Research Institute (NHGRI) maintains a list of rare genetic diseases, which are under study. This resource gives a set of answers about each disease, which is relatively customized for each disease and NIF exposes this list of questions and answers.
The NHGRI also maintains a list of organizations and other related resources potentially useful for patients.
To view the information, we can begin by asking NIF about a particular disease, below we ask about Wilson Disease.
General information about diseases can be found under the Disease category, and NHGRI diseases are found in the Genetic Disease tab.
Clicking on the name of the disease, leads users to the NHGRI site for that particular disease.
Below we can also find information about the disease including clinical trials, genetic information, a list of patient organizations, and other resources..