Honoring Rare Disease Day through Patient Community Outreach

Presented by the National Center for Advancing Translational Sciences (NCATS) and Clinical Center, the National Institutes of Health (NIH) Rare Disease Day shines a light on rare diseases, patients affected by them, and the current research happening across disciplines to find better therapies. Taking place every year at the end of February, the goal of Rare Disease Day is to raise awareness of the challenges that patients of rare diseases face amongst the general public and decision-makers that have power to shape policy. Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008.

Rare Disease Day 2022 took place as a virtual conference on February 28, 2022. Along with the main conference, there were over 600 events held across 106 countries by partners and collaborators.

The Gabriella Miller Kids First Data Resource Center has been excited to host a booth at Rare Disease Day for the past several years, as the event is an excellent opportunity to connect directly with patients interested in learning more about how resources like the Kids First DRC are supporting accelerated research, including work that focuses on rare diseases.

As of March 2022, there are over 1.5PB of data files, consisting of genomic data from 12,000 families and 26,849 childhood cancer and structural birth defect patient study participants within the Kids First Data Resource Portal. The genomic data accessible through the Portal are aligned to Human Genome Reference 38 and comprehensive phenotypic data harmonized using community-based ontologies and standards such as the Human Phenotype Ontology (HPO) and/or the NCI Thesaurus.

This year, the Kids First DRC also hosted a free virtual Community Open House a few days before the main conference on February 25, 2022. This event served as a patient-focused update about how data experts, lab scientists, and clinicians are sharing resources in real-time and uncovering common links across pediatric diseases. Attendees were also able to hear how advocates and patient families, along with scientists and clinicians, pushed for the creation of this program and how they can support Kids First’s continued mission.

A recording of the Kids First DRC’s Community Open House event can be found on our YouTube Channel.

At the NIH Rare Disease Day conference on February 28, nearly 2,300 attendees were able to tune in for remarks from leaders at the NIH and representatives from the Rare Disease Congressional Caucus, focused sessions from clinical and patient experts, virtual art and scientific poster exhibitions, and digital networking through the event’s online attendee portal.

Attendees had access to a live virtual booth and video presentation from the Kid First DRC’s Operations Center team during the NIH Rare Disease Day event. Researchers looking to use the Kids First Data Resource for the first time, current users looking for updates, and patients looking to better understand current research practices were able to ask questions to our Scientific Community Program Manager, Dr. David Higgins.

To learn more about the data available, help with tools and features, and to register to use the Kids First Data Resource Portal, visit https://kidsfirstdrc.org/support/getting-started/.