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Birth Defects Center Receives Second Largest Federal Grant in The History of The University

The University of Louisville Birth Defects Center has received an $8.2 million National Institutes of Health (NIH) grant for research that could lead to developments in the prevention and treatment of birth defects. The five-year grant establishes the Birth Defects Center as a Center of Biomedical Research Excellence (COBRE) that will bring together researchers from diverse disciplines to develop methods to prevent, diagnose and treat birth defects. "Birth defects are the single leading cause of infant mortality," said Robert M. Greene, Ph.D., Chair of the Department of Molecular, Cellular and Craniofacial Biology and Director of the Birth Defects Center. "While we've made great strides in recent years, the causes of over 70 percent of birth defects remain unknown. That is what makes the work of our Center so critical."

The COBRE grant will enable the University of Louisville Birth Defects Center to develop a critical mass of investigators, augment the ability of the Center to achieve its biomedical research mission, and enhance selected junior investigator's research expertise and productivity so as to facilitate their ability to compete independently for NIH research grant support. Each of these COBRE-supported junior investigators will be mentored by an established, well-funded senior biomedical research faculty member recognized for his/her scientific expertise in the area of the junior investigator's research proposal. According to Dr. Greene, senior faculty "…should be able, in fact should often be made, to reverse roles, as this might encourage more supportive and sympathetic attitudes. This is in no sense paternalism," said Dr. Greene, "but rather assistance that should be viewed as an investment in the general welfare of the COBRE and the University.….an investment whose returns result in an increase in the quality of all faculty."

According to statistics from the Centers for Disease Control and Prevention (CDC), approximately 17% of U.S. children under 18 years of age have a developmental disability. In most instances, the cause of the disability is not known. Each of the COBRE-supported junior investigator's research projects addresses significant, unanswered questions in the general areas of developmental biology and/or birth defects, and may have a potentially significant impact on major biomedical health care issues. COBRE-supported junior investigators, and their research areas, include:

  • Dr. Dennis Warner (School of Dentistry) - Analysis of cellular signaling during craniofacial development.
  • Dr. Yi Liu (School of Medicine) - Examination of fetal malnutrition-induced low birth weight as a potential indicator for Type 2 diabetes.
  • Dr. Partha Mukhopadhyay (School of Dentistry) - Molecular mechanisms of neural tube defects.
  • Dr. Joseph Moore (School of Medicine) - Analysis of development of the pituitary neuroendocrine system in embryos.

The state of Kentucky currently has three COBRE centers: The Kentucky Spinal Cord Injury Research Center at the University of Louisville, the Center of Biomedical Research Excellence in Women's Health at the University of Kentucky and the Birth Defects Center at the University of Louisville. The University of Louisville Birth Defects Center is a collaborative effort of more than 30 researchers and practitioners from departments throughout the university. All Center members either have active, funded research programs related to the study of normal and/or abnormal embryonic development, or are engaged actively in the provision of clinical care to children with developmental disorders. Established in 2000, the goal for the Birth Defects Center is to improve the diagnosis and treatment of birth defects as well as developing means of prevention. To do this, investigators in the Center are engaged in fundamental research on molecular and molecular-genetic aspects of embryonic development and congenital malformations.

On an average day in this country, approximately 11,000 babies are born. Of these, nearly 400 are born with a recognizable birth defect, and approximately 900 are born exhibiting low birth weight. This presents the staggering observation that, in this country alone, a baby with a birth defect is born every three minures, and a baby exhibiting growth retardation is born nearly every 2 minutes! In addition, congenital anomalies are the single leading cause of infant mortality, directly responsible for one out of every five infant deaths. Nearly twenty five percent of all infant deaths in Kentucky are caused by congenital anomalies......one of the highest rates in the nation. Indeed, more babies die because of complications due to birth defects than from all other causes.

Some of the primary research areas under active investigation by core researchers in the Birth Defects Center focus on the etiology of intrauterine growth retardation and craniofacial birth defects such as cleft lip, cleft palate and neural tube defects. Craniofacial defects are among the most common birth defects in the United States today. Indeed, every hour there is a child born in this country with an oro/facial cleft. "The Birth Defects Center is an important part of the dental school's craniofacial biology research agenda," said Dr. John Williams, Dean of the School of Dentistry. "We are very proud to have received this national distinction (COBRE designation) in support of our continued commitment to the University's Challenge for Excellence." President of the University of Louisville, Dr. James Ramsey, has voiced strong support for this "Challenge for Excellence" as it forms the blueprint being utilized by the University to enable it to become a nationally recognized metropolitan research university, as mandated by the Commonwealth in Kentucky's Higher Education Act of 1997. One of the priority areas identified by the University for investment is the area of birth defects research. By enabling increased support and mentored training of our next generation of biomedical research scientists, establishment of this COBRE will significantly contribute to the University of Louisville Birth Defects Center's ability to meet the challenge of prevention of birth defects.

State and federal education departments spend about $36 billion each year on special education programs for individuals with developmental disabilities who are 3-21 years old. In addition to causing significant physical and emotional suffering to affected children and their families, the economic costs associated with the treatment and care of children with birth defects are staggering. The March of Dimes estimates that the lifetime costs associated with congenital anomalies for infants born with birth defects this year alone will total $10 billion. By providing revealing insights into the molecular and genetic causes of developmental disorders, and by advancing the fundamental knowledge in this area, COBRE grantees will provide potentially enormous benefit to this major health care problem facing our society.

Robert M. Greene, Ph.D.
Director, University of Louisville Birth Defects Center
Professor and Chair,
Department of Molecular, Cellular and Craniofacial Biology
Associate, Department of Pediatrics