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Getting Diagnosed

Getting a correct diagnosis is often a major challenge for someone who has a rare disease. Many people are unable to get a diagnosis or are misdiagnosed. Here's how to speed up what can be a long, frustrating experience.

Rare Diseases Spotlight10

Amyotrophic Lateral Sclerosis: A Guide For Patients and Families

Review of the book Amyotrophic Lateral Sclerosis: A Guide For Patients and Families by Hiroshi Mitsumoto, MD, 2009 3rd Edition, published by Demos Medical Publishing.

In Need Of Diagnosis (INOD)

Information about the organization In Need Of Diagnosis (INOD) including its mission, resources, and contact information.

Hydrolethalus Syndrome

Information about hydrolethalus syndrome, a genetic disorder, including its symptoms and diagnosis.

What is informed consent?

Information about what informed consent is and how it relates to a clinical trial.

NDRI (National Disease Research Interchange)

Information about the NDRI (National Disease Research Interchange), including the National Rare Disease Biospecimen Resource (NRDBR).

Rare Diseases Clinical Research Network

Information about the Rare Diseases Clinical Research Network of the U.S. National Institutes of Health (NIH).

What Is a Clinical Trial?

Information about what a clinical trial is, what the different types of clinical trials are, and what the phases of a clinical trial are.

What Is a Clinical Trial?

Information about what a clinical trial is and why it is done.

Scoliosis

Information about what scoliosis is and why it happens.

Marfan Syndrome

Information about Marfan syndrome, a connective tissue disorder, including symptoms, diagnosis, and treatment.

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