Newborn Screening-Past, Present and Future
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (30 December 2016) | Viewed by 49819
Special Issue Editors
Interests: neonatal screening; inborn errors of metabolism; phenylketonuria; homocystinuria; galactosemia; endocrine disorders; program development; bio banking; assistance to developing countries in setting up/expanding NBS; biological anthropology; genetic epidemiology
Special Issue Information
Dear Colleagues,
Even Robert Guthrie could not have envisioned the scope of newborn screening when, in the late 1950s and early 1960s, he developed newborn screening for Phenylketonuria (PKU). He did think that it would expand beyond PKU and, indeed, he added several metabolic disorders to screening and lived to see expansion beyond metabolic disorders to congenital hypothyroidism, as well as congenital adrenal hyperplasia and sickle cell anemia. However, he could not have thought that his simple filter paper dried blood specimen would be used to test for 30–50 disorders, and certainly did not envision the possibility that virtually every genetic disorder could be identified, as is now being considered.
This Special Issue of the International Journal of Neonatal Screening, devoted to “Newborn Screening – Past, Present and Future”, will consider where we have been, where we are, and where we might be going.
Potential Topics:
- NBS in Latin America
- NBS in New England
- Gene sequencing in NBS
- Lysosomal storage disorders in NBS
- Experience of NBS for Krabbe disease
- NBS in Europe or Western Europe or the European Communuity
- The prospect of NBS for adrenoleukodystophy
- NBS by succinylacetone tyrosine as it has changed Tyrosinemia I
- NBS for biotinidase deficiency-converting a disease
- Adding homocysteine to methionine for the methionine metabolic defects
Prof. Dr. Harvey L. Levy
Guest Editor
Mr. Lawrence Chan
Assistant Guest Editor
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Keywords
- newborn screening
- neonatal screening
- phenylketonuria
- PKU
- genetic disorders
- dried blood
- inborn error of metabolism
- phenylalanine hydroxylase deficiency
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