Infant Blood May Provide Insights Into Birth Diseases

Ruzanna Harutyunyan's picture
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Van Andel Institute (VAI) researchers are the first to apply a new technology to measure on a large scale the presence of genes in blood spots - the blood drawn from newborn infants to screen for health-threatening conditions.

Using a random sample of blood spots collected from 1998 to 2004 and the latest RNA technology, researchers were able to detect over 3,000 genes in each sample, and to quantify the levels of several specific genes. This type of testing and data could eventually be used for the retrospective study of disease with an ultimate goal of identifying at-risk children in an attempt to pre-empt the onset 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. "Imagine testing blood from nearly the entire population of U.S. infants and using the data for the retrospective study of disease. If a particular disease pops up in a specific segment of the population, you could use the data to look for causes, biomarkers and potential drug targets."

All 50 states in the U.S. have mandatory newborn screening programs, and the practice has been adopted by most countries around the world. Typically, this involves pricking the heel of newborns, also known as a "heel stick," to get a few drops of blood on filter paper. The blood is then screened for diseases for which early diagnosis and therapy can cure, prevent, or lessen the 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 is archived in varying conditions, sometimes for 21 years or more.

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

While other researchers have confirmed the stability of blood spot RNA and its ability to reflect diseases, VAI researchers are the first to apply the latest tools in RNA technology to measure the expression of genes in blood spots on a larger scale. Using a random sample of blood spots collected from 1998 to 2004, researchers were able to detect an average of 3,480 genes in each sample, and to quantify the levels of several specific genes. Researchers in VAI's Laboratories of Microarray Technology and Molecular Epidemiology led by Resau and lead author of the study, Peterson T. Haak, received valuable assistance and expertise from Nigel Paneth, M.D., and his colleagues at Michigan State University's College of Human Medicine, College of Osteopathic Medicine and Department of Physiology.

"By teaming with state health departments and utilizing existing blood spot archives, we hope to improve our understanding of diseases that are not immediately apparent at birth, but have roots in the perinatal period," said Resau. "Measuring the relative abundance of thousands of expressed genes from

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

By state law in effect since 1986, the Michigan Department of Community Health stores blood spots for 21.5 years. Michigan state law explicitly encourages the use of these archived blood spots for medical research; anonymous samples can be obtained for research with approval from an Institutional Review Board and the Michigan Department of Public Health, and individually identified samples can be obtained with parental informed consent.

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