NIH Newborn Screening Research Program Named In Memory of Hunter Kelly

The National Institutes of Health today announced the establishment of a research program to enhance newborn screening, in memory of the son of National Football League Pro Football Hall of Fame quarterback Jim Kelly.

Hunter Kelly died at age 8 1/2 years in 2005 of Krabbe disease, a rare, fatal genetic disorder affecting the nervous system.

Newborn screening consists of performing routine diagnostic tests on newborn infants, to identify serious, often fatal, disorders at birth, so that these disorders can be treated. The tests usually involve analyzing a sample of blood, taken from an infant’s heel.

Under the provisions of the Newborn Screening Saves Lives Act, Congress established The Hunter Kelly Newborn Screening Research Program within the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The program is authorized to carry out, coordinate, and expand research in newborn screening. The goal is to increase the number of conditions that can be diagnosed at birth, to understand the long-term effects of living with these conditions, and to foster the development of new treatments.

“It is fitting that the NICHD’s research program in newborn screening bears Hunter Kelly’s name,” said Susan Shurin, M.D., Acting Director of the NICHD. “Through the foundation established in his memory, Hunter’s family has increased awareness of the need for research to expand newborn screening, and worked tirelessly to ensure that routine newborn screening and treatment can be expanded to cover a far greater number of disorders than is possible today.”

After Hunter’s diagnosis in 1997, the Kellys and their family members established the Hunter’s Hope Foundation to raise awareness and fund research for Krabbe disease and related disorders (known as leukodystrophies), and to support families affected by these conditions.

Jim Kelly said that the principal focus of the Hunter Kelly Foundation is to educate and advocate for expanded and universal newborn screening for all possible diseases. After Hunter’s diagnosis, the Kelly family tried to help Hunter fight the rare, degenerative, muscular and nervous-system disease and to help him improve. They also reached out to others, to raise awareness about leukodystrophies and to encourage the research needed to expand universal newborn screening for the early detection and treatment of these and other conditions.

“On behalf of my wife Jill, our daughters Erin and Camryn, and our beloved son, Hunter, I would like to thank the NIH/NICHD for giving this special honor to Hunter and our family,” Kelly said. “It has and continues to be our prayer that Hunter’s short life and his suffering would one day improve the lives of others. Through the Hunter Kelly Newborn Screening Research Program our prayers will be answered.”

The implementation of the Newborn Screening Saves Lives Act is an acknowledgment that newborn screening plays an important role in the prevention of disease and disability, and recognizes the need for continuing research to improve newborn screening methods, explained Duane F. Alexander, M.D., senior scientific advisor on global maternal and child health, at NIH’s Fogarty International Center.

“Through their advocacy, the Kelly family has played a leading role in promoting this research, not just for the condition that affected their son, but for the full range of these often rare disorders,” Dr. Alexander said.

Routine newborn screening has been conducted by all 50 states since the 1970s, explained R. Rodney Howell, M.D., special assistant to the Acting Director of the NICHD, and chair of the Advisory Committee on Heritable Disorders in Newborns and Children, Office of the Secretary of the U.S. Department of Health and Human Services.

The first newborn screening effort in the United States involved testing for phenylketonuria (PKU), a metabolic disorder that, if untreated, leads to severe intellectual and developmental disabilities. In the 1960s, a blood test for PKU was developed and children with the disorder were identified at birth. NICHD-supported research found that a diet low in the amino acid phenylalanine could spare these children from brain damage. After the diet was shown to prevent the serious conditions accompanying PKU, screening for the condition became widespread in the United States. Through the years, states gradually began adding more disorders to their list of screened conditions.

Dr. Howell explained that, by the late 1990s, the programs grew and developed. However there was a large variation in the number and types of conditions for which states screened. Efforts to standardize newborn screening across the states began by the beginning of the next decade. In 2001, the Health Resources and Services Administration of HHS convened an expert group to evaluate the available evidence on newborn screening and to make recommendations. The panel recommended screening for 29 conditions for which treatment is currently available, and what it referred to as 25 secondary target conditions—for which diagnostic tests are available, but for which treatments are generally not available. Today, the majority of states screen for the 29 primary conditions.

Dr. Howell added that research conducted under the authority of the Hunter Kelly Newborn Screening Research Program will include efforts to identify new screening technologies as well as research on managing conditions that can be detected through screening. Under the program, the Newborn Screening Translational Research Network Coordinating Center will provide the infrastructure support needed to accomplish these goals.

In 2007, more than 4.2 million U.S. infants underwent newborn screening, Dr. Howell added. Of these, a total of 4,220 infants were diagnosed with significant hearing defects and another 7,189 infants were diagnosed with biochemical abnormalities or defects in the blood protein hemoglobin. Like vaccination, newborn screening provides great benefit for a small cost, Dr. Howell noted.

“It is impossible to place a value on the lives of the infants saved, but a single patient who is detected and treated for PKU, who would have otherwise been profoundly delayed and have required custodial care for a normal life span, saves extraordinary costs for the child, the family and for society,” he said.

In addition to research on newborn screening in the United States, the NIH recently began a partnership with Morocco to assist research and screening efforts in that country. Rajae El Aouad, M.D., the director of the National Institute of Hygiene of the Kingdom of Morocco, described efforts to begin newborn screening in her country.

She explained that the effort began with her nation’s partnership with the NIH to strengthen newborn screening in the Middle East and North Africa. The partnership began with a 2006 meeting that included experts from the region as well as Europe, North America, Asia, and the Pacific Islands. A followup meeting was held in Cairo, Arab Republic of Egypt in 2008. After the meeting, the Moroccan Ministry of Health developed a plan to screen Moroccan infants, which will soon be implemented.

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The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Institute’s Web site at http://www.nichd.nih.gov/.

The National Institutes of Health (NIH) — The Nation's Medical Research Agency — includes 27 Institutes and Centers and is a component of the U. S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical, and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.