Search

FOR many conditions, when newborn screening detects an abnormality that can be effectively treated, it can make the difference between a healthy life and one that requires long-term care. For [...]

Mike, a memorable young patient with untreated phenylketonuria, as well as others affected by genetic disorders that could be treated if diagnosed in infancy, launched my six-decade career. This autobiographical article reflects on my childhood, early research, and professional experiences in pediatric genetics. My laboratory research focused on inborn errors of metabolism, including the glycogen storage diseases. My effort to organize newborn screening through the recommended uniform screening panel shaped and standardized newborn screening nationwide. Looking ahead, the expansion of whole-genome and whole-exome sequencing into newborn screening raises ethical and policy issues regarding informed consent procedures and the storage and use of residual blood spots. [ABSTRACT FROM AUTHOR]

Current treatment benefits for patients with muscle disease are limited, but progress in legislative and scientific initiatives have set the stage for the development of new therapies. The MD-CARE Act (Public Law 107-84), which allocates federal resources to muscular dystrophy, was approved by Congress and signed into law by the President of the United States in 2001. This has shifted the emphasis toward translational research. To facilitate a push toward therapy for muscle disorders, the Muscular Dystrophy Association (MDA) sponsored a meeting with representatives from industry, the Food and Drug Administration (FDA), the National Institutes of Health (NIH), and other government agencies and academia. Each contributed in different ways. The FDA helped define the necessary data to support investigational new drug (IND) applications including the design of proof-of-principle studies, outcome measures for clinical trials, and the pathway for developing surrogate measures for fast-tracking promising new drugs. The NIH, other government agencies, and the MDA described potential funding sources for translational research. Industry delineated a complementary role with academia, and academic investigators elucidated the current strengths and weaknesses of available clinical endpoints. The meeting provided a format for communication for diverse disciplines that usually have no common meeting ground, helping to lay the foundation for bringing products to market in a timely fashion. Muscle Nerve, 2006 [ABSTRACT FROM AUTHOR]

Abstract: There is rapid expansion of newborn screening throughout the United States. A recent report from the American College of Medical Genetics has recommended a mechanism by which decisions are made about adding tests to the screening panel, and a core panel of 29 conditions has been recommended. Implementing such a program is a major undertaking in every state and involves not only the laboratory but also a number of diagnostic and follow-up services. It is essential to have laboratory programs in place to minimize false positive screening tests and at the same time communicate in the most effective manner possible about the nature of false positives. [Copyright &y& Elsevier]

Discusses the etiology of inborn errors of metabolism. Enzyme activity in tissues of patients with the condition; Genetic aspects of the condition; Analysis of the rate of enzyme synthesis in bacteria; Mechanisms to increase the quantity of enzyme in mammals.

Studies biochemical abnormalities in hereditary diseases. Interpretation of the subdivision of chromosomes which conveys a unit biochemical message; Technique of growing human cell lines in tissue culture; Analysis of the enzymatic contents of human cell lines; Overview of the cell theory.

The article provides information on the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children (ACHDGDNC), its brief history and its accomplishments. ACHDGDNC is created to give advice and to guide the Secretary of Health and Human Services (HHS) on the appropriate application of universal screening technologies, policies and guidelines to reduce mortality and morbidity in newborns and children at risk of genetic disorders.

Discusses the issues on screening of maternal phenylketonuria. Risk of children born to mothers with high blood phenylalanine levels; Prenatal care for women with persistent phenylalanine elevations; Recommendations in dealing with phenylketonuria.

The article presents an introduction to the articles published in this issue of the periodical on newborn screening.