On March 1, 2018 “Rare Disease Day at NIH” convened at the National Institutes of Health in Bethesda, Maryland. Rare Disease Day takes place worldwide, typically on or near the last day of February each year, to raise awareness among policymakers and the public about rare diseases and their impact on patients’ lives. The theme for Rare Disease Day 2018 was research, and the slogan was “Patients are not only subjects but also proactive actors in research.” Free and open to the public, the all-day event at NIH was sponsored by the National Center for Advancing Translational Sciences (NCATS) and the NIH Clinical Center. It featured podium presentations, posters, exhibits, an art show, and tours of the NIH Clinical Center. Among the presenters was Chester B. Whitley, PhD, MD, the Principal Investigator of the Lysosomal Disease Network. The presentations were live-streamed on March 1, and are now available as online video. Dr. Whitley’s portion of the presentations begins at 1 hour 12 minutes into the video. The entire event video provides a valuable opportunity to increase one’s knowledge of rare diseases and their impact upon individuals and their communities. It also provides insights into the current state-of-the-art in rare diseases research and treatment.