ASHG Partners with ACMG for Congressional Briefing: The Undiagnosed Diseases Network

Posted By: Jil Staszewski, Policy & Advocacy Manager, ASHG

ASHG and the American College of Medical Genetics and Genomics (ACMG) have partnered together to launch a series of congressional briefings on Capitol Hill to educate Congress on the importance of genetics and genomics research and medicine. Congressional briefings provide an opportunity for organizations to engage members of Congress and their staff on a particular topic or issue.

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L-R: Katie Murray, a staffer in briefing sponsor Rep. Loebsack’s office; and speakers John Phillips III, MD; Bill Gahl, MD, PhD; Gail Jarvik, MD, PhD; and Danny Miller.

For genetics and genomics, it is important that members of Congress and their staff understand the value that sustained federal funding holds for genetics and genomics research, and its translation to clinical applications that benefit patients and research institutions nationwide.

On Thursday, September 26, the initial briefing in this series was held, titled, “The Undiagnosed Diseases Network (UDN): The Interface of Research and Clinical Care to Solve Medical Mysteries,” sponsored by Representative Dave Loebsack (D-IA). Gail Jarvik, MD, PhD, ASHG Secretary and Co-Principal Investigator at the University of Washington UDN, moderated the briefing.

In her opening remarks, Dr. Jarvik noted the value of this ASHG-ACMG partnership and the significance of highlighting the UDN, stating, “The expertise of these two organizations and their members spans the facet of genetics from basic research to clinical practice. Just as research informs clinical practice, information learned in the clinic also informs research. Not only is the Undiagnosed Diseases Network an excellent example of this, but it is also a great example of how federal funding for such a program can broadly impact clinical care and research beyond the program itself.”

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Dr. Gahl (middle) and Dr. Jarvik (right) discuss the importance of federal funding for clinical care and research.

Additional speakers included Bill Gahl, MD, PhD, Director of the Undiagnosed Diseases Program at NHGRI; John Phillips, III, MD, Co-Principal Investigator at the Vanderbilt University UDN; and Danny Miller, the father of two patients who were diagnosed through the Stanford University UDN.

Dr. Gahl spoke about the history of how his work with the Undiagnosed Diseases Program eventually evolved into the NIH-funded Undiagnosed Diseases Network in 2013. Dr. Phillips went into detail about some of the research and diagnoses he has been able to complete through the UDN, and how the UDN allows for a unique team-based approach in identifying undiagnosed diseases. Danny Miller gave a passionate testament of how the UDN has benefited the lives of his two children, and why continued, increased federal funding is so vital in helping other patients with undiagnosed diseases and their families nationwide.

If you are interested in hearing more about the speakers’ stories, stay tuned! A video of the briefing presentations will be made available in the near future.

Have an idea about a future briefing topic? Let ASHG know at policy@ashg.org. To stay up-to-date on genetics and genomics policy issues, subscribe to our monthly policy and advocacy email updates.

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