Metabolic Disorders – Newborn Screening
Developing improved diagnostics for patients with urea cycle disorders and other inborn metabolic dysregulations through computational metabolomics
The speed and accuracy of newborn screening are critical factors to identifying and treating infants with inborn errors of metabolism. Newborn screening is a core component of neo-natal health management, and in the continuing effort to provide rapid and effective care to patients with metabolic defects, it is imperative to continually update screening targets and methods.
Dr. Merritt is a clinical biochemical geneticist specializing in treating patients with urea cycle disorders. Urea cycle disorders are characterized by the body’s inability to properly eliminate nitrogen from the blood, leading to the accumulation of ammonia and the onset of hyperammonemia, which can lead to permanent brain injury if not quickly addressed. Dr. Merritt also works with patients diagnosed with other inborn metabolism errors, including organic acid disorders such as methylmalonic acidemia (MMA) and Very long-chain acyl-CoA dehydrogenase (VLCAD). Although some diseases Dr. Merritt treats can be addressed by careful dietary maintenance, others might involve critical enzyme deficiencies requiring mRNA therapies or liver transplantation. In many cases, receiving an accurate diagnosis in the first days of life is key to patient survival.
Besides conducting clinical trials on novel therapeutic, Dr. Merritt investigates the use of data collected from newborn screening as a means of optimizing diagnostic readouts. Along with a multi-disciplinary group of collaborators, Dr. Merritt is working with these screening data to refine current newborn diagnostic systems by using a multivariate approach, which develops a composite diagnosis of genetic diseases based on multiple factors, not just a single biomarker as is often the case. The ability to use a newborn screening database as a point of reference is a powerful resource when developing metabolomics diagnostic tools, and using a multivariate approach has demonstrated efficacy in lowering the incidence of false positive readouts.
Dr. Merritt is interested in collaborating with metabolomics and diagnostics companies to further advance diagnostic capabilities to screen for metabolic diseases. Furthermore, Dr. Merritt is well positioned to help validate new therapeutic targets for metabolic diseases by combining his clinical expertise, extensive data repository, and his computational metabolomics experience.
Stage of Development
- Clinical trial development
- Collaborative research opportunity
- Development opportunity
- Sponsored research agreement
- Consultation agreement
- Clinical data access
- Clinical trials
- Merritt JL II, Brody LL, Pino G, Rinaldo P. Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening. Mol Genet Metab. 2018; 124(2):109-113.
- Golden-Grant K, Merritt J, Scott C. Ethical considerations of population screening for late-onset genetic disease. Clin Genet. 2015;88(6):589-592.
- Nagamani S, Diaz G, Rhead W et al. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Molecular Genetics and Metabolism. 2015;116(1-2):29-34.
- Merritt J, Vedal S, Abdenur J et al. Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. Molecular Genetics and Metabolism. 2014;111(4):484-492.
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