Global Genes | RARE Project speaks with one voice for thousands of rare diseases that are increasingly being identified with next-generation sequencing.
In the United States, rare diseases and disorders are defined by the U.S. Food and Drug Administration (FDA) as those that
affect fewer than 200,000 people. While rare, all together these diseases impact millions of people worldwide. Regrettably, their rarity translates into a dearth of clinical information about effective diagnosis and treatment, causing vast numbers of people to go undiagnosed for years.
With an estimated 80 percent of these disorders caused by gene mutations3, next-generation sequencing (NGS) has become a
valuable tool for diagnosis. The lower cost and higher throughput of NGS systems such as the Illumina HiSeq® 2500 are enabling laboratories to perform whole-genome sequencing to identify the presence of disease-linked mutations.
Yet, once the diagnosis is made, many families have nowhere to turn for guidance and emotional support. Fewer than half of rare diseases are supported by patient advocacy organizations.