About the Lab
Biochemical Research Core
The Biochemical Research Core at Children’s National, located in the Center for Precision Medicine and Genomics Research, provides targeted metabolomics analysis, with a focus on amino acid and related compounds. Targeted analysis allows for quantification of metabolites from a wide variety of sample types such as plasma/serum, model tissue, cells, whole blood and other sample types. Using our suite of analytical instruments, we can measure concentrations of your important analytes in your biologic sample of interest.
Our Core seeks to provide support and service to researchers both within and outside of the Children’s National community to help investigators understand disease states, pathophysiologic and the underlying mechanism of disease. We support all levels and types of research.
Services
Amino Acid Analysis
- Tier 1: Standard profile (including the proteogenic amino acids)
- Tier 2: Expanded profile (including the proteogenic amino acids and those found in Inborn Errors of Metabolism)
- Ammonia
- Add-on to a standard profile
*Please contact us for a detailed listing of the analytes detected
*Due to the rapidity with which ammonia must be measured after sample collection and processing it is not included in the standard profile
Protein Identification (GM2)
- Tier 1: Small to Medium size peptides and proteins (0.1 – 120 kDa)
- Tier 2: Medium to Large size proteins (5 – 1,250 kDa)
*We are currently evaluating interest for protein purification and collection, if you would like this capability please contact us and let us know
N-acetylated amino acids
- -N-acetylglutamate, N-carbamylglutamate
All samples undergo a preliminary review of the data for quality check and to identify potential outliers at no additional cost.
Contact us to initiate a New Project/Assay
Free consultation to assist with experimental/project design and feasibility.
If an investigator is interested in conducting an assay not listed here, please reach out to us to discuss a custom method development.
Publications
- Cunningham G, Zhou Y, Summar M. Development of a robust 30-minute reverse-phase high pressure liquid chromatography method to measure amino acids using widely available equipment and its comparison to current clinical ion-exchange chromatography measurement. Mol Genet Metab Rep. 2022, 31:100868. doi: 10.1016/j.ymgmr.2022.100868. PMID: 35782607; PMCID: PMC9248210.
- Wilson KA, Zhou Y, Cunningham G, Chapman K, Summar M, Regier A. A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography Mol Genet Metab Rep, 43:101202. doi: 10.1016/j.ymgmr.2025.101202. eCollection 2025 Jun
Collaborations
We are collaborating with Matthew Bramble, PhD, to investigate genetic and environmental factors associated with konzo, an irreversible neurological disease causing paralysis of the legs, and linked to consuming insufficiently processed cassava.
Further reading
1. Glutathione peroxidase 3 is a potential biomarker for konzo
We are collaborating with Lisa M. Guay-Woodford, MD, and Zsuzsanna Bebok, MD to investigate genetic basis and pathobiology of autosomal recessive polycystic kidney disease (ARPKD).
Further reading
3. Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease
We collaborated with Suzanne Groah, MD, MSPH, Hans Pohl, MD, and Michael Hsieh, MD, PhD, to investigate urinary microbiomes in patients with spinal cord injury and spina bifida
Further reading
1. The urine microbiome of healthy men and women differs by urine collection method
We collaborated with Adeline Vanderver, MD, to identify and functionally annotate pathogenic sequence variants in patients with leukodystrophies
Further reading
1. Whole exome sequencing in patients with white matter abnormalities
2. Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy
3. GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease