MGM Reports 2017

Dr. Millington refutes further misinformation regarding the application of ‘equivalent cutoffs’ to prospective NBS data, misleading comparisons of MS/MS and fluorometry GAA testing methods and the effect of preanalytical variability on LSD NBS results.

Author: David S. Millington

MGM Reports. 2017; 12: 98. doi: 10.1016/j.ymgmr.2017.06.008. Epub 2017 July 6.

MGM Reports 2017

Dr. David Millington, pioneer of expanded newborn screening, and Dr. Deeksha Bali, expert in LSD diagnostic methods, address persistent misinformation regarding current methods for newborn screening of LSDs.

Authors: David S. Millington and Deeksha Bali

MGM Reports. 2017; 11: 72-73. doi: 10.1016/j.ymgmr.2017.04.009. Epub 2017 May 10.

Journal of Pediatrics 2015

Authors: Patrick V. Hopkins, Carlene Campbell, Tracy Klug, Sharmini Rogers, Julie Raburn-Miller, Jami Kiesling

The first ever published study of prospective newborn screening for lysosomal storage disorders in the U.S. highlights the results from the first 6 months of newborn screening in Missouri for Pompe, Gaucher, Fabry and MPS I.

J Pediatrics. 2015 Jan;166(1):172-7. doi: 10.1016/j.jpeds.2014.09.023. Epub 2014 Oct 18. (not freely available)

American Academy of Pediatrics 2015

Authors: Vinod K. Bhutani, Michael Kaplan, Bertil Glader, Michael Cotten, Jairus Kleinert, Vamsee K. Pamula

This report demonstrated the feasibility of measuring glucose-6-phosphate dehydrogenase (G6PD) enzyme activity via the digital microfluidic platform for point-of-care newborn screening.

Pediatrics. 2015 Nov;136(5):e1268-75. doi: 10.1542/peds.2015-2122. Epub 2015 Oct 12. (not freely available)

Clinical Biochemistry 2013

Authors: Carrie Graham, Ramakrishna S. Sista, Jairus Kleinert, Ning Wu, Allen Eckhardt, Deeksha Bali, David S. Millington, and Vamsee K. Pamula

To demonstrate that different assays can be performed on the same digital microfluidic cartridge, this study demonstrated feasibility of performing an enzyme assay for biotinidase deficiency on the same cartridge used for detecting enzyme activity of lysosomal storage disorders.

Clin Biochem. 2013 December; 46(18): 1889–1891. doi:10.1016/j.clinbiochem.2013.09.003.

Clinica Chimica Acta 2013

Authors: Ramakrishna S. Sista, Tong Wang, Ning Wu, Carrie Graham, Allen Eckhardt, Theodore Winger, Vijay Srinivasan, Deeksha Bali, David S. Millington, and Vamsee K. Pamula

This report describes the feasibility of performing a multiplex assay using digital microfluidic technology to screen for lysosomal storage disorders.

Clin Chim Acta. 2013 September 23; 424: 12–18. doi:10.1016/j.cca.2013.05.001.

Molecular Genetics and Metabolism 2013

Authors: Ramakrishna S. Sista, Tong Wang, Ning Wu, Carrie Graham, Allen Eckhardt, Deeksha Bali, David S. Millington, and Vamsee K. Pamula

As a follow-up to previous research, this study demonstrated feasibility of performing enzyme activity assays for Gaucher and Hurler diseases using digital microfluidics.

Mol Genet Metab. 2013 June; 109(2): 218–220. doi:10.1016/j.ymgme.2013.03.010.

Blood Coagulation & Fibrinolysis 2012

Authors: Emani S, Ramakrishna Sista, Loyola H, Trenor III C, Vamsee Pamula, Emani SM

The feasibility of performing immunoassays on a digital microfluidic cartridge was demonstrated on coagulation factors associated with hypercoagulability risk.

Blood Coag and Fibrinolysis 2012, 23: 760-768. (not freely available)

Clinical Chemistry 2011

Authors: Ramakrishna S. Sista, Allen E. Eckhardt, Tong Wang, Carrie Graham, Jeremy L. Rouse, Scott M. Norton, Vijay Srinivasan, Michael G. Pollack, Adviye A. Tolun, Deeksha Bali, David S. Millington, and Vamsee K. Pamula

This study was one of the first published that demonstrated feasibility of using the digital microfluidic fluorimetric assays to test enzyme activity of lysosomal storage disorders (specifically Pompe and Fabry).

Clinical Chemistry 57:10 1444–1451 (2011)

Seminars in Perinatology 2010

Authors: David S. Millington, PhD, Ramakrishna Sista, PhD, Allen Eckhardt, PhD, Jeremy Rouse, Deeksha Bali, PhD, Ronald Goldberg, MD, Michael Cotten, MD, Rebecca Buckley, MD, and Vamsee Pamula, PhD

In this review, Dr. Millington provides a basic overview of the digital microfluidic technology and a review of the assays relevant to newborn screening.

Semin Perinatol. 2010 April ; 34(2): 163–169. doi:10.1053/j.semperi.2009.12.008.

Conference Presentations

Newborn Screening for Time-Critical Metabolic Disorders – A New Paradigm to Test at the Point of Care. S. Chopra, A. Mohsen, R. Singh, M. Nuffer, C. Graham, R. Ng, J. Vockley and V. Pamula. Platform presentation at the 2017 Pediatric Academic Society Annual Meeting (May 6-9, 2017 in San Francisco, CA).

Multiplex PCR for High Throughput Screening of Severe Combined Immunodeficiency, Spinal Muscular Atrophy and X-Linked Agammaglobulinemia. L. Nelson, J. Taylor, R. Singh, S. Norton, and V. Pamula. Poster presented at the 2017 ACMG Annual Meeting (March 21-25, 2017 in Phoenix, Arizona).

Flexible Digital Microfluidic Platform to Multiplex Various Combinations of Enzymatic Assays for Newborn Screening of Pompe, Mucopolysaccharidosis Types I and II, Biotinidase Deficiency and Galactosemia Disorders. A. Ullal, R. Ng, M. Nuffer, C. Graham, L. Nelson, R. Singh and V. Pamula. Poster presented at the 2017 LSD World Symposium (Feb 13-17, 2017 in San Diego, CA).

Multiplexing Current and Emerging Enzymatic Assays for Pompe, Mucopolysaccharidosis Type I, Biotinidase Deficiency and Galactosemia Disorders on a Digital Microfluidic Cartridge. M. Nuffer, C. Graham, L. Nelson, A. Ullal, R. Singh and V. Pamula. Poster presented at the 2016 International Society for Neonatal Screening (Sept 11-14, 2016 in the Hague, Netherlands).

Krabbe and Niemann-Pick disorders: Development of novel fluorimetric assays using dried blood spots
D. Bali, H. Pham, C. Graham, P. Ross, M. Nuffer, S. Norton, R. Singh, A. Ullal, V. Pamula
Presented at 2016 LSD World Symposium (Feb 29-Mar 4, 2016 in San Diego, CA)