On March 9, a standing-room only crowd of congressional staff, research advocates, and scientists attended the Federation of American Societies for Experimental Biology (FASEB) Capitol Hill briefing on rare disease research and the critical role the National Institutes of Health plays in supporting discovery. The briefing was organized in cooperation with Congressmen Scott Peters and Leonard Lance. The lunchtime event coincided with FASEB’s annual Capitol Hill Day, which brought 55 scientists to Washington to urge Congress to boost funding for basic research.
Hudson Freeze, PhD, FASEB President and Director of the Human Genetics Program at the Sanford Burnham Prebys Medical Discovery Institute, discussed his work on glycobiology, the study of sugars and their important biological functions in the cell. Through his research on basic biological and biochemical processes, he discovered certain defects in glycosylation (the process by which sugars can be linked to proteins). This work led to a sugar therapy to help patients with a rare glycosylation disorder. More broadly, Dr. Freeze underscored the importance of serendipity in science, particularly how basic research projects can lead to transformative discoveries.
Hilary Vernon, MD, PhD, Assistant Professor of Pediatrics at the Johns Hopkins University School of Medicine, outlined her laboratory’s research program on an inherited metabolic disorder called Barth syndrome. Combining bench science and clinical research, Dr. Vernon developed a multiyear roadmap for better diagnosing and treating Barth syndrome patients. Her work has resulted in improved diagnostic techniques for this disease, and a clinical trial of a possible pharmaceutical treatment is in the early stages.
Cristina Might, Founder and Executive Director of NGLY1.org, shared her story and perspective as a rare disease patient advocate. After her son was born with a rare disorder, NGLY1 deficiency, Ms. Might and her husband embarked on a quest to better understand his condition, connec
with other patients and their families, and ultimately start a foundation to increase awareness and research support for this debilitating disease. During her talk, Ms. Might gave special thanks to Dr. Freeze for the efforts of his laboratory team in helping the Mights understand their son’s condition.
All three speakers emphasized how new therapies and treatments would not be possible without the fundamental scientific knowledge gained through basic research. After their remarks, the speakers answered questions about the future of rare disease research and how further advances will be made possible through the cooperation of scientists, clinicians, and patient advocates.