Know Your Disease Landscape

Learn What is Known About Your Disease

You need to know what information has been published about your rare disease because it will help you identify any gaps in research, determine next steps, and prioritize your registry goals.

Explore these online resources:

Genetic and Rare Diseases Information Center (GARD) provides easy-to-understand information about rare and genetic diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS).
Orphanet has a directory of ongoing research projects, clinical trials, registries, and biobanks.
PubMed is a resource of the National Center for Biotechnology Information (NCBI), at the U.S. National Library of Medicine (NLM), located at the National Institutes of Health (NIH). PubMed has over 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. It is not only a great resource for finding information about rare disease research and for finding researchers.
GeneReviews is an online resource written for and by healthcare providers that offers diagnosis, management, and other information about genetic conditions.

Find answers to these questions

Below are questions you may want to explore to learn more about your disease. As you begin gathering information, you may discover additional relevant information. If you can’t find information on a topic, you can make a note to discuss it with researchers.

Disease features
- What are the disease features (both frequent and rare)?
- What organ systems are affected?
- Is there variability in presentation of disease features from person to person? Is this variability observed even within the same family?
- Are certain disease features only present in a subset of people living with the rare disease (e.g., age group, sex, geographical location)?
- How do disease features vary or progress over a person’s lifetime?
Cause
- What is the cause?
- Is there a known or suspected genetic and/or molecular cause?
- Have any causes been ruled out?
- Is the physiological basis of the disease known?
- If the cause is genetic, is it inherited? Is the mode of inheritance (e.g., autosomal dominant, autosomal recessive) known?
Diagnosis
- Is there a specific age or age range in which people get diagnosed?
- How is the disease diagnosed?
- If the disease is genetic, is genetic testing available?
- Does there appear to be a delay in diagnosis?
- Does an ICD (International Classification of Diseases) code exist for the disease?
Life expectancy
- What is the life expectancy of the disease?
- Does the life expectancy vary? If so, have the factors that can affect life expectancy been identified?
Prevalence
- How many people have been diagnosed with this rare disease?
- Is it more common in a geographical location, ethnic group, sex, and/or age group?
Treatment
- Is there treatment available?
- How many people respond to the available treatment?
- How safe is the treatment?
- Does it interfere with other medications?
- How expensive is the treatment?
- How is disease progression affected by available therapies?
Other diseases
- Are there other diseases with similar symptoms?
- Do these diseases have treatment? Could the same treatment potentially be used to treat your rare disease?
- Are the gene(s) or biological pathway involved in your disease associated with any other diseases?

Resources

Learn What is Known About Your Disease

Genetic and Rare Diseases Information Center (GARD) National Center for Advancing Translational Sciences (NCATS) (link)

Orphanet: Registries & Biobanks Orphanet (link)

PubMed National Library of Medicine (NLM) (link)

GeneReviews National Library of Medicine (NLM) (link)

Expanding the Science of Patient Input: Building Smarter Patient Registries FasterCures (link)

Determine What Research is Being Done

ClinicalTrials.gov National Library of Medicine (NLM) (link)

Research Portfolio Online Reporting Tool (RePORTER) National Institutes of Health (NIH) (link)

ResearchMatch About ResearchMatch (link)