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Children's National Health System's Marshall Summar, MD, Appointed Chair of Advisory Panel on Rare Disease

Washington, DC -  Marshall L. Summar, MD, Division Chief, Genetics and Metabolism at Children’s National Health System, has been appointed chair of the Patient-Centered Outcome Research Institute’s (PCORI) new Advisory Panel on Rare Disease by PCORI’s Board of Governors.

Dr. Summar will lead the new panel that provides PCORI advice and direction on the design and implementation of comparative effectiveness research and research priorities in the area of rare diseases.

“This is a terrific opportunity to develop a national agenda for how we treat and approach rare diseases. This field is unique in that it covers thousands of diseases and eight to 10 percent of the population but has only a few individuals in each group (of rare diseases),” Dr. Summar said. “Developing decision tools to determine appropriate care models will require new approaches in clinical study design and statistical methods. Children’s National is a world leader in this field, and this appointment reflects that fact.”

The Advisory Panel on Rare Disease was created by PCORI in November 2013, along with five other panels focusing on different aspects of healthcare.

“Our new advisory panels will benefit greatly from the leadership of these individuals,” said PCORI Executive Director Joe Selby, MD, MPH. “Each panel will be led by a pair of individuals whose complementary expertise and backgrounds will ensure that the panels’ work will be both scientifically rigorous and focused on the interests and needs of patients and those who care for them.”

As Chief of the Division of Genetics and Metabolism at Children’s National, Dr. Summar heads a team that is the largest clinical program in the world caring for rare diseases. This team treats over 8,000 patients a year. A geneticist and pediatrician with expertise in rare diseases, Dr. Summar’s work has focused on devices and treatments for patients with genetic diseases and adapting knowledge from rare diseases to mainstream medicine.

“With the advent of personalized medicine, the tools we develop for rare diseases become more important to the general medical community,” Dr. Summar said. “As we tailor medical information and treatments to the individual, the practice resembles that of a rare disease in which each group has a very limited number of patients to develop guidelines from. The PCORI Rare Disease Advisory Panel will lead this effort nationally. ”

Dr. Summar has organized and led a large number of international work groups to develop standards of care and treatment for rare diseases and serves on the board of directors of the National Organization of Rare Diseases and the Society of Inherited Metabolic Diseases. He is board-certified in pediatrics, clinical genetics, and biochemical genetics and has been listed on the Best Doctors in America list since 2004.

Named co-chair of the Advisory Panel on Rare Disease is Vincent Del Gaizo, of Whitehouse Station, N.J., who will represent patients, caregivers, and patient advocates.

Chairs and co-chairs were approved by PCORI’s Board of Governors during its June 17 meeting.

Contact: Emily Hartman or Joe Cantlupe at 202-476-4500.