Rare Disease Day, Feb. 28, highlights research, awareness and clinical care

To mark progress on rare diseases, experts across the country, including those at Johns Hopkins Medicine, will celebrate Rare Disease Day on Feb. 28.

About 10% of the U.S. population has a rare disease — that’s 25 to 30 million people with such conditions, according to the National Organization for Rare Disorders. There are more than 8,000 known rare disorders, some of which you are born with while others develop over time. All pediatric cancers are considered rare diseases — and the majority of rare diseases have a genetic root.

“Rare Disease Day recognizes our progress in improving the lives of patients and families through scientific advancements,” says Amy Patterson, M.S., C.G.C., genetic counselor in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine. “A diagnosis is the first positive step toward finding the right care plan for our patients.”

As key members of the Johns Hopkins Department of Genetic Medicine, genetic counselors help patients with rare diseases navigate their care and find the right genetic tests and treatments. Yet studies show that more awareness about genetic counselors is needed. In one survey of 188 individuals in Canada, researchers from the University of British Columbia found that nearly 70% of respondents had never heard of genetic counseling before.

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