FDA Honors R. Rodney Howell As Hero of Rare Diseases

R. Rodney Howell, M.D., professor and chair emeritus of pediatrics who champions disease prevention through newborn screenings, has been recognized by the U.S. Food and Drug Administration as a “Rare Disease Hero.”

For its celebration of the 30th anniversary of the passage of the Orphan Drug Act, which provided the first meaningful incentives to develop early interventions for the estimated 25 million Americans with rare diseases, the FDA highlighted Howell as one of 30 heroes who have made clinical, research, advocacy and regulatory contributions over the last three decades.

“I was of course thrilled that the FDA chose me as one of the 30 heroes of rare diseases as a part of their celebration,” Howell said. “Newborn screening, the area in which I have focused for some years, is a major way to diagnose rare, deadly disorders which can benefit from the drugs produced by manufacturers who benefit from the Orphan Drug Act.”

Howell, a geneticist and pediatrician who played a key role in developing the uniform panel of serious disorders for which nearly every baby in the United States is tested, is profiled on the FDA website and featured in a poster displayed at its headquarters in Washington, D.C.

In the online profile, Howell is described as “not only a pediatrician, but an advocate for patients and a champion of furthering the early detection and treatment of many metabolic and congenital disorders.”

“It is altogether fitting that Dr. Howell is nationally distinguished with this honor as a rare disease hero, for an incredible and inspirational hero he is,” said Judy Schaechter, M.D., M.B.A., associate professor and Interim Chair of Pediatrics. “Rod has made immense contributions to countless families nationwide, both through his own original research, particularly in Pompe disease, and his tireless advocacy.”

Howell is credited with leading his colleagues in evaluating and creating the core list of newborn screening tests for genetic or functional conditions that can be catastrophic to a baby if not detected early. In many cases, early diagnosis and treatment can prevent or lessen the severity of these conditions. For example, in the case of phenylketonuria, or PKU, a condition in which newborns lack the enzyme needed to properly break down the amino acid phenylalanine, a strict diet can make the difference between a normal life and severe retardation.

Today, nearly all infants born in the U.S. are screened for PKU and a host of other diseases that, left undetected and untreated, would disrupt their endocrine, metabolic or hemoglobin function and, in some cases, threaten their lives. Expansion of the screening panel is a major public health accomplishment, due in no small measure to Howell’s advocacy.

Howell’s FDA distinction comes just five months after he received the March of Dimes Lifetime Achievement Award in Genetics. A member of the John P. Hussman Institute for Human Genomics, he has served both as president of the American College of Genetics and Genomics and later as president of its Foundation.

An author of more than 150 research papers dealing with genetic-metabolic diseases in children, Howell served as senior advisor to the director at the Eunice Kennedy Shriver National Institute of Child Health and Human Development and is the founding chair of the U.S. Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.

Howell’s influence, Schaechter said, will endure for generations to come.

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