Photo of David M. Koeller, M.D.

David M. Koeller M.D.

  • (503) 494-8307
    • Professor of Molecular and Medical Genetics School of Medicine
    • Molecular and Medical Genetics Graduate Program School of Medicine
    • Program in Molecular and Cellular Biosciences School of Medicine

Dr. Koeller has a diverse research background that includes basic studies of yeast mitochondrial iron metabolism, mammalian cellular iron metabolism, and the development and characterization of a mouse model of Glutaric Acidemia Type 1 (GA-I), an inherited disorder of lysine metabolism.

His current research includes an epidemiologic study of the possible impact of traditional Alaska Native foods on the health effects of a genetic variant in the CPT1A gene that he has previously shown to be a risk factor for infectious diseases and infant mortality in Alaska Native infants.

Dr. Koeller is also the Co-PI of the Metabolomics Core for the NIH Undiagnosed Disease Network. The Metabolomics Core is a joint project with investigators at the US Department of Energy’s Pacific Northwest National Laboratory, in Richland, WA.

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  • M.D., University of Illinois James Scholar Program 1982
  • Residency:

    • University of Minnesota, Minneapolis, MN
  • Fellowship:

    • Fellowship in research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD
  • Certifications:

    • American Board of Pediatrics, 1988

Memberships and associations

  • American College of Medical Genetics & Genomics,


  • "A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative." Genetics in Medicine  In: , 15.06.2018, p. 1-12.
  • "Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome." American Journal of Ophthalmology Case Reports  In: , Vol. 10, 01.06.2018, p. 244-248.
  • "Looking beyond the exome : A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases." Genetics in Medicine  In: , Vol. 20, No. 4, 01.04.2018, p. 464-469.
  • "Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder." American Journal of Human Genetics  In: , Vol. 102, No. 3, 01.03.2018, p. 494-504.
  • "Health effects of the CPT1A P479L variant : responsible public health policy." Genetics in medicine : official journal of the American College of Medical Genetics  In: , Vol. 19, No. 12, 01.12.2017.
  • "Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease." American Journal of Medical Genetics, Part A  In: , Vol. 173, No. 9, 01.09.2017, p. 2500-2504.
  • "MARRVEL : Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome." American Journal of Human Genetics  In: , Vol. 100, No. 6, 01.06.2017, p. 843-853.
  • "A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3." American Journal of Human Genetics  In: , Vol. 100, No. 1, 05.01.2017, p. 128-137.
  • "Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I." Epilepsia  In: , 2017.
  • "Model organisms facilitate rare disease diagnosis and therapeutic research." Genetics  In: , Vol. 207, No. 1, 2017, p. 9-27.
  • "Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I : second revision." Journal of Inherited Metabolic Disease  In: , 16.11.2016, p. 1-27.
  • "Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease : 18-month results from the randomised phase III ATTRACT study." Journal of Medical Genetics  In: , 10.11.2016.
  • "De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype." American Journal of Human Genetics  In: , Vol. 99, No. 4, 06.10.2016, p. 991-999.
  • "Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A." Genetics in Medicine  In: , Vol. 18, No. 9, 01.09.2016, p. 933-939.
  • "LmABCB3, an atypical mitochondrial ABC transporter essential for Leishmania major virulence, acts in heme and cytosolic iron/sulfur clusters biogenesis." Parasites and Vectors  In: , Vol. 9, No. 1, 1284, 05.01.2016.
  • "Normal vitamin D levels and bone mineral density among children with inborn errors of metabolism consuming medical food-based diets." Nutrition Research  In: , Vol. 36, No. 1, 01.01.2016, p. 101-108.
  • "Building a molecular glyco-phenotype ontology to decipher undiagnosed diseases." CEUR Workshop Proceedings  In: , Vol. 1747, 2016.
  • "Arginine : Glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide." Molecular Genetics and Metabolism  In: , 04.09.2015.
  • "Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I." Biochimica et Biophysica Acta - Molecular Basis of Disease  In: , Vol. 1852, No. 5, 01.05.2015, p. 768-777.
  • "CSF and blood levels of GFAP in Alexander disease." eNeuro  In: , Vol. 2, No. 5, e0080-15.2015, 01.01.2015.
  • "Acute lysine overload provokes protein oxidative damage and reduction of antioxidant defenses in the brain of infant glutaryl-CoA dehydrogenase deficient mice : A role for oxidative stress in GA i neuropathology." Journal of the Neurological Sciences  In: , Vol. 344, No. 1-2, 15.09.2014, p. 105-113.
  • "Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of Gcdh-/- mice : Possible implications for the neuropathology of glutaric acidemia type I." PLoS One  In: , Vol. 9, No. 3, e90477, 04.03.2014.
  • "Reply." Journal of Pediatrics  In: , Vol. 165, No. 2, 2014, p. 420-422.
  • "Reply." Journal of Pediatrics  In: , Vol. 165, No. 2, 2014, p. 419-420.
  • "Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I." Acta neuropathologica communications  In: , Vol. 2, 2014, p. 13.
  • "Association of a genetic variant of carnitine palmitoyltransferase 1a with infections in alaska native children." Journal of Pediatrics  In: , Vol. 163, No. 6, 12.2013, p. 1716-1721.
  • "Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1." Biochimica et Biophysica Acta - Molecular Basis of Disease  In: , Vol. 1832, No. 10, 10.2013, p. 1463-1472.
  • "Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice." Life Sciences  In: , Vol. 92, No. 2, 07.02.2013, p. 137-142.
  • "Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation." Molecular Genetics and Metabolism  In: , Vol. 108, No. 1, 01.2013, p. 30-39.
  • "Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice : A possible mechanism for brain injury in glutaric aciduria type I." Molecular Genetics and Metabolism  In: , Vol. 107, No. 3, 11.2012, p. 375-382.

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