Development of a bile acid–based newborn screen for Niemann-Pick disease type C

Xuntian Jiang; Rohini Sidhu; Laurel Mydock-McGrane; Fong-Fu Hsu; Douglas F. Covey; David E. Scherrer; Brian Earley; Sarah E. Gale; Nicole Y. Farhat; Forbes D. Porter; Dennis J. Dietzen; Joseph J. Orsini; Elizabeth Berry-Kravis; Xiaokui Zhang; Janice Reunert; Thorsten Marquardt; Heiko Runz; Roberto Giugliani; Jean E. Schaffer; Daniel S. Ory

doi:10.1126/scitranslmed.aaf2326

Research ArticleNIEMANN-PICK TYPE C DISEASE

Development of a bile acid–based newborn screen for Niemann-Pick disease type C

Xuntian Jiang¹,
Rohini Sidhu¹,
Laurel Mydock-McGrane²,
Fong-Fu Hsu³,
Douglas F. Covey²,
David E. Scherrer¹,
Brian Earley¹,
Sarah E. Gale¹,
Nicole Y. Farhat⁴,
Forbes D. Porter⁴,
Dennis J. Dietzen⁵,
Joseph J. Orsini⁶,
Elizabeth Berry-Kravis⁷,
Xiaokui Zhang⁸,
Janice Reunert⁹,
Thorsten Marquardt⁹,
Heiko Runz¹⁰,¹¹,
Roberto Giugliani¹²,
Jean E. Schaffer¹ and
Daniel S. Ory¹,*

¹Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
²Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.
³Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
⁴Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
⁵Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
⁶New York State Department of Health, Wadsworth Center, Albany, NY 12201, USA.
⁷Rush University Medical Center, Chicago, IL 60612, USA.
⁸Genzyme, 500 Kendall Street, Cambridge, MA 02142, USA.
⁹Klinik und Poliklinik für Kinder- und Jugendmedizin–Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster, Germany.
¹⁰Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
¹¹Department of Genetics and Pharmacogenomics, Merck Research Laboratories, 33 Avenue Louis Pasteur, Boston, MA 02115, USA.
¹²Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, Rio Grande do Sul 90035-003, Brazil.

↵*Corresponding author. Email: dory{at}wustl.edu

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Science Translational Medicine 04 May 2016:
Vol. 8, Issue 337, pp. 337ra63
DOI: 10.1126/scitranslmed.aaf2326

Xuntian Jiang

1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.

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Rohini Sidhu

1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.

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Laurel Mydock-McGrane

2Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.

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Fong-Fu Hsu

3Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.

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Douglas F. Covey

2Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.

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David E. Scherrer

1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.

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Brian Earley

1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.

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Sarah E. Gale

1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.

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Nicole Y. Farhat

4Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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Forbes D. Porter

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Dennis J. Dietzen

5Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.

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Joseph J. Orsini

6New York State Department of Health, Wadsworth Center, Albany, NY 12201, USA.

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Elizabeth Berry-Kravis

7Rush University Medical Center, Chicago, IL 60612, USA.

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Xiaokui Zhang

8Genzyme, 500 Kendall Street, Cambridge, MA 02142, USA.

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Janice Reunert

9Klinik und Poliklinik für Kinder- und Jugendmedizin–Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster, Germany.

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Thorsten Marquardt

9Klinik und Poliklinik für Kinder- und Jugendmedizin–Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster, Germany.

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Heiko Runz

10Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

11Department of Genetics and Pharmacogenomics, Merck Research Laboratories, 33 Avenue Louis Pasteur, Boston, MA 02115, USA.

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Roberto Giugliani

12Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, Rio Grande do Sul 90035-003, Brazil.

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Jean E. Schaffer

1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.

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Daniel S. Ory

1Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.

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For correspondence: dory@wustl.edu

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Development of a bile acid–based newborn screen for Niemann-Pick disease type C

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