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Beyond the Bloodspot Did you know that the Washington State newborn screening program currently participates in
a number of studies to help us gain new knowledge about several different disorders in children? Tens of thousands of parents across Washington have agreed to
take part in at least one of the following studies to help investigators improve the health of our children.
Can newborn screening help children who are at risk of type 1 (juvenile) diabetes? And, what environmental factors increase the risk of its development? Two studies with the Pacific Northwest Diabetes Research Institute, named DEW-IT 2 (Diabetes Evaluation in Washington) and TEDDY (The Environmental Determinants of Diabetes in the Young), ask parents if they will allow their newborn to be screened for genetic markers that indicate an increased risk of developing Type-1 diabetes. If parents provide signed consent to allow the screening and the baby is found to be at increased risk, parents are asked if they would like to participate in further studies. These include monitoring to see if the child does develop Type-1 diabetes. Is hearing loss associated with cytomegalovirus (CMV) load in dried newborn blood spots? A study with the University of Washington (UW) is looking at the relationship between cytomegalovirus (CMV) in the dried blood spots and development of hearing loss. Read about the UW Pediatric Audiology Clinic's focus on newborn hearing screening, early diagnosis and intervention here. Is it feasible to screen for lysosomal storage disorders? We are working with the UW to evaluate the feasibility of newborn screening for lysosomal storage disorders (LSD). The disorders being examined include Pompe Disease, the topic of the 2010 film 'Extraordinary Measures' starring Brendan Fraser, Harrison Ford and Keri Russell. LSDs are inherited disorders caused by the malfunction of lysosomes, specific structures in the body's cells that are required to break down fats and proteins. Dr. C. Ronald Scott, director of the PKU and Biochemical Genetics Clinic at UW, discusses newborn screening for lysosomal storage disorders here. Do mothers tend to report smoking levels reliably? A study with the UW headed by Dr. Beth Mueller is looking at correlations between mother's smoking level, as reported on the birth certificate, and levels of cotinine (a chemical related to smoking) in dried blood spots. This study will be useful in future investigations that use mother's smoking level from the birth certificate.
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