Washington, DC - Marshall L. Summar, MD, Division Chief, Genetics and Metabolism, Center for Genetic Medicine Research (CGMR) at Children’s National Health System, has been appointed to the Patient-Centered Outcome Research Institute (PCORI)’s inaugural Advisory Panel on Rare Disease.
The new 13-member Advisory Panel on Rare Diseases will advise PCORI, a government research and funding institution, on its funding priorities in the area of rare disease, and also engage with the rare disease research community.
Summar and the other panelists were selected from 129 applications on the basis of their experience, expertise, and ability to contribute to the panel’s advisory tasks and responsibilities. The PCORI Board of Governors approved Dr. Summar’s one-year appointment on March 25. The Advisory Panel on Rare Disease will convene for its first meeting on Wednesday, April 30, in Washington, D.C.
“PCORI’s work to support research that answers questions important to patients and those who care for them will benefit greatly from the insights of this stellar group of individuals with such breadth and depth of expertise in rare diseases,” said PCORI’s Chief Science Officer Bryan Luce, PhD, MBA. “Our advisory panel helps us identify and prioritize research topics and also helps us evaluate all of our research programs to ensure our work remains patient-centered.”
Rare diseases are defined in the United States as conditions that occur in fewer than 200,000 people, but collectively, they impact millions of Americans and their families. The National Institutes of Health lists more than 6,800 rare conditions in the U.S.
As the Division Chief of Genetics and Metabolism, Dr. Summar heads a team that is the largest clinical program in the world caring for rare diseases. The Children’s National team treats over 8,000 patients a year.
At the Children’s Research Institute, their work focuses on devices and treatments for patients with genetic diseases, while adapting knowledge from rare diseases to mainstream medicine. Children’s National has become a hub for basic science, clinical research and trials centered on genetic rare diseases. It has also become a home for patient advocacy groups and a close partner with the National Organization of Rare Diseases, which serves families with rare conditions.
Dr. Summar’s own research has focused on rare diseases affecting nitrogen and ammonia metabolism. He also has a keen interest in newborn screening issues. The Children’s National team he leads has initiated and completed studies on a variety of ailments and conditions, examining issues ranging from HIV to Down syndrome, while reviewing genetic influences, and developing high technology apps designed for more efficient and improved care.
“We’ve become a medical destination clinic nationally and internationally for patients with rare genetic conditions,” Dr. Summar said of Children’s National. “Our whole program is geared toward the rare disease care model and the development of best practice standards.”
“When you think about pediatrics, with the notable exceptions of asthma, infections and trauma, almost everything is rare. Children are basically healthy, so when they get sick it is often something unusual,” Dr. Summar said. “The models we develop for treating rare genetic and metabolic conditions are useful for almost any complex care situation in pediatrics. We are looking at the management of the whole patient.”
“With 7,000 plus rare conditions, no one can be a master of them all, but we strive to develop treatment standards and goals that benefit each group. Our team is also large enough that we can find someone with expertise in almost any disease.”
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 in Best Doctor’s in America since 2004.
As Dr. Summar begins working on the Advisory Panel on Rare Diseases, he said he plans to use his experience to focus on best practices for pediatric care not only to ensure the most solid policies, but also to be certain that the individuality of both the patient and the rare disease community is taken into account.
“The classic models of looking at patient outcomes and best practices involve mega data, but in rare diseases there is no such thing,” Dr. Summar said. “You have to look at the landscape in a wide swath. You find out what the best practices are and build on that. It’s not one size fits all.”
Essentially, Dr. Summar said he looks for what is “common (among) the uncommon” to find ways to master rare diseases and ailments.
The charter for the Advisory Panel on Rare Disease, including its scope of work, is available on the PCORI website.
A list of the new panelists is available on PCORI's website here.
Contact: Emily Hartman or Joe Cantlupe at 202-476-4500.