This Section conducts independent and collaborative research studies utilizing data and specimens from the Newborn and Prenatal Screening Programs. The Section has conducted several research projects regarding cystic fibrosis. Information obtained from these studies has been essential to the programmatic development of the cystic fibrosis component of the Newborn Screening Program. The Section staff are responsible for maintaining the cystic fibrosis registry. In addition, staff are involved in the evaluation and selection of the specific mutations in the DNA mutation panel. These mutations were selected based on mutation studies in the California population.
Additional active projects include studies of molecular markers of preterm birth and the feasibility of adding Severe Combined Immunodeficiency Disorder (SCID) to the newborn screening panel.
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