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American College of Medical Genetics receives $13.5M NIH contract

The American College of Medical Genetics (ACMG), a national nonprofit medical and scientific professional association, announced that it has received a $13.5 million, 5-year contract from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) of the National Institutes of Health (NIH) for the development of a National Newborn Screening Translational Research Network.

"This visionary contract will enable us to improve newborn screening, the care of patients identified in newborn screening, and our knowledge of the conditions that might be added to newborn screening," said Michael S. Watson, PhD, FACMG, executive director of the ACMG.

"At a time when newborn screening is expanding rapidly, this contract from the federal government provides the vehicle for research by the scientific community to study nationwide the most effective ways to introduce new screening tests. We can also assess how best to confirm diagnoses, initiate and follow existing and new treatments and improve their effectiveness, and educate parents and care providers about this growing realm of diagnosing and treating rare genetic disorders in children and giving them the chance to function normally," said Duane Alexander, M.D., Director, NICHD.

The NIH contract, the largest in ACMG history, will fund the establishment of the Newborn Screening Translational Research Network Coordinating Center (NBSTRNCC) whose activities will include, but are not limited to:

  1. Establish an organized network of state newborn screening programs and clinical centers.
  2. Develop, implement and refine a national research informatics system for investigators and policy makers that dovetails with established national clinical networks.
  3. Establish and administer an efficient, reliable repository of residual dried bloodspots that is either virtual or physical and comprised of those stored by state newborn screening programs and other resources.
  4. Facilitate research on screened and treated patients to define effectiveness of treatments and long-term outcomes.
  5. Facilitate research on the development of new methods and technologies.

"By contributing to our understanding of patients with genetic diseases, this contract will accelerate research in diseases related to newborn screening and greatly improve the process by which public health decisions are made about the expansion of newborn screening," said Dr. Watson.

"ACMG is proud to provide leadership for the medical community in the area of newborn screening and in particular translating scientific advances into improved health," said Joe Leigh Simpson, MD, FACMG, president of the ACMG. "This grant is recognition that the optimal treatment of these rare conditions requires collaborative efforts among geneticists and other physicians throughout the nation."


Contact: Kathy Beal
American College of Medical Genetics

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