NIGMS Human Genetic Cell Repository Highlighted on Rare Disease Day


The NIGMS Human Genetic Cell Repository was featured in a recent event recognizing Rare Disease Day 2021, highlighting the role that patients with heritable diseases play in advancing rare disease research.

This year’s event, Patients: Heroes of Rare Disease Research, was held virtually as organized by Penn Medicine’s Orphan Disease Center and the Coriell Institute for Medical Research, the nonprofit biobank which houses and maintains the NIGMS Repository.

Matthew W. Mitchell, PhD, Co-Principal Investigator of the NIGMS collection, was one of several speakers who applauded the rare disease community for its role in research. "Something inspiring about the rare disease community is how collaborative everyone is and how willing everyone is to build and grow networks," said Coriell's Dr. Mitchell.

This event brought together many players involved with the rare disease community, hosted by the Orphan Disease Center’s Director of JumpStart, Deborah Requesens, PhD, who previously served as the Principal Investigator of the NIGMS Repository. Other featured speakers included Anne T. Berg, PhD, of the Northwestern Feinberg School of Medicine, Eric Marsh, MD, PhD, of Penn Medicine’s Orphan Disease Center, Scott Demarest, MD, of Children’s Hospital Colorado, and Anna Pfalzer, PhD, of COMBINEDbrain.

Among the highlights of this this event was recognition of the tremendous role that patients and families play in facilitating rare disease research. "Families have not only inspired me to do my research, but they have inspired me to do more," said Eric Marsh, MD, PhD.

This year’s event follows Rare Disease Day at Coriell in 2020, which focused on disease advocacy groups as drivers of research and important community strongholds for patients and their families. New Jersey lawmakers acknowledged this event by issuing a joint legislative resolution commemorating the Coriell Institute for holding the Rare Disease Day event to bring attention to the need for diagnosis, treatment, and the ultimate cure of rare diseases.

View the recording of the Rare Disease Day 2021 event here.

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