Precision medicine, early diagnosis, newborn screening, and optimizing clinical trial success will be among the topics at the annual NORD Rare Diseases and Orphan Products Breakthrough Summit to take place October 21–22 in Arlington, Virginia. Keynote speakers will include Stephen Ostroff, MD, Acting Commissioner, FDA, and Christopher P. Austin, MD, Director, NIH National Center for Advancing Translational Sciences.
Robert Saul, MD, Co-Director of the American Academy of Pediatrics (AAP) Genetics in Primary Care initiative, will discuss the challenges for community physicians in caring for patients with complex rare diseases. Sophia Walker, a medical student at the University of Connecticut, will share thoughts regarding rare diseases in the medical school curriculum.
In line with the current emphasis on precision medicine, Barbara Conley, MD, Associate Director of the National Cancer Institute’s Cancer Diagnosis Program, will present on the NCI-Match clinical trial launched recently. This trial seeks to determine whether targeted therapies for people whose tumors have specific gene mutations will be effective regardless of the cancer type.
Blogger, author, and geneticist Ricki Lewis, PhD, will share stories from patients she has interviewed to illustrate the potential impact of precision medicine on the rare disease community. Marshall Summar, MD, Division Chief, Genetics and Metabolism, Children’s National Health System, will moderate a session on Facilitating Early Diagnosis and Treatment.
Mike S. Watson, PhD, Executive Director of the American College of Medical Genetics and Genomics, will speak on “Newborn Screening—Advanced Capabilities and Ethical Considerations.”
The annual Breakthrough Summit draws approximately 500 professionals and patient advocates each year. It features general sessions with special tracks for researchers, clinicians, drug developers, and patient organization leaders. Additional information is available on the NORD website at http://rarediseases.org/summit-overview/ and early bird registration pricing is in effect until August 28th.