Rare Diseases have a home at NCATS

Joni L. Rutter, PhD, Acting Director at the National Center for Advancing Translational Sciences (NCATS) recently wrote about rare diseases and research.

Shortening the Diagnostic Odyssey

Getting an accurate diagnosis — early, easily, and expeditiously — is a critical step in providing the best possible care for all people with rare diseases. But, for rare diseases, this journey takes an average of 7 years. It can include unnecessary tests, procedures, and health care visits, leading to misdiagnoses; delayed or missed treatments; and untold emotional, economic, and health burden. NCATS aims to shorten the duration of the diagnostic odyssey by more than half.

Most frontline health care providers don’t have prior experience with an individual rare disease, and the scarcity of specialists and genetic counselors further contributes to delayed appointments and lack of access to care, especially for medically underserved communities. Three NCATS-supported teams are tackling this challenge by developing diagnostic tools that can be easily used early in patient care. The tools will leverage machine learning, genomic analysis, and clinical evaluation. I encourage you to read more about this effort.

For those recently diagnosed or looking for answers, NCATS offers a number of go-to resources. The Genetic and Rare Diseases Information Center, for instance, has information on more than 6,000 rare diseases. It is visited by 16 million people each year, and its information specialists answer thousands of individual questions about treatments, clinical trials, and organizations that can help.

More Than One Disease at a Time

Because rare diseases are not rare, their treatments shouldn’t be either, but research on each separately is difficult, expensive, and slow. An NCATS-led analysis found that orphan-designated drugs for rare diseases spent, on average, 552 more days in clinical development than a typical drug. At a one-disease-at-a-time pace, it will take thousands of years to tackle all rare diseases. That’s not good enough.

Read more at ncats.nih.gov/director.

The Rare Disease Day at NIH 2022 virtual conference is being held on Feb 28. Learn more at ncats.nih.gov.