Infant Blood May Provide Insights into Diseases Present at Birth

Tuesday, December 16, 2008 General News
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GRAND RAPIDS, Mich., Dec. 15 Van Andel Institute (VAI)researchers are the first to apply a new technology to measure on a largescale the presence of genes in blood spots - the blood drawn from newborninfants to screen for health-threatening conditions. Using a random sample ofblood spots collected from 1998 to 2004 and the latest RNA technology,researchers were able to detect over 3,000 genes in each sample, and toquantify the levels of several specific genes. This type of testing and datacould eventually be used for the retrospective study of disease with anultimate goal of identifying at-risk children in an attempt to pre-empt theonset of disease.

"This is a vast, underutilized resource," said James Resau, Ph.D.,distinguished scientific investigator, deputy director for special programs,and director of the Division of Quantitative Sciences at VAI. "Imaginetesting blood from nearly the entire population of U.S. infants and using thedata for the retrospective study of disease. If a particular disease pops upin a specific segment of the population, you could use the data to look forcauses, biomarkers and potential drug targets."

All 50 states in the U.S. have mandatory newborn screening programs, andthe practice has been adopted by most countries around the world. Typically,this involves pricking the heel of newborns, also known as a "heel stick," toget a few drops of blood on filter paper. The blood is then screened fordiseases for which early diagnosis and therapy can cure, prevent, or lessenthe effects of the disease. The list of diseases tested for varies by state,but testing generally only uses a small portion of the blood. The rest isarchived in varying conditions, sometimes for 21 years or more.

"The amazing thing is that many of these blood spots are stored in roomtemperature conditions, so we're basically testing dried blood on filterpaper," said Resau. "Even so, we got good RNA test results from samples thathave been in storage for as long as nine years."

While other researchers have confirmed the stability of blood spot RNA andits ability to reflect diseases, VAI researchers are the first to apply thelatest tools in RNA technology to measure the expression of genes in bloodspots on a larger scale. Using a random sample of blood spots collected from1998 to 2004, researchers were able to detect an average of 3,480 genes ineach sample, and to quantify the levels of several specific genes. Researchersin VAI's Laboratories of Microarray Technology and Molecular Epidemiology ledby Resau and lead author of the study, Peterson T. Haak, received valuableassistance and expertise from Nigel Paneth, M.D., and his colleagues atMichigan State University's College of Human Medicine, College of OsteopathicMedicine and Department of Physiology.

"By teaming with state health departments and utilizing existing bloodspot archives, we hope to improve our understanding of diseases that are notimmediately apparent at birth, but have roots in the perinatal period," saidResau. "Measuring the relative abundance of thousands of expressed genes from

universally collected neonatal blood spots may open new avenues of researchinto perinatal markers and determinants of disease development."

By state law in effect since 1986, the Michigan Department of CommunityHealth stores blood spots for 21.5 years. Michigan state law explicitlyencourages the use of these archived blood spots for medical research;anonymous samples can be obtained for research with approval from anInstitutional Review Board and the Michigan Department of Public Health, andindividually identified samples can be obtained with parental informedconsent.

Established by Jay and Betty Van Andel in 1996, Van Andel Institute is anindependent research organization dedicated to preserving, enhancing andexpanding the frontiers of medical science, and to achieving excellence ineducation by probing fundamental issues of education and the learning process.Available Topic Expert(s): For information on the listed expert(s), clickappropriate link.James Resau

SOURCE Van Andel Institute

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