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Senior Clinician

Office of the Clinical Director


NIH Undiagnosed Diseases Program


M.D. University of Washington

Ph.D. University of Washington


Dr. Adams is a researcher, pediatrician and biochemical geneticist in the NIH Undiagnosed Diseases Program (UDP) and the NHGRI Office of the Clinical Director. After completing his M.D. and Ph.D. (under Prof. Maynard Olson) in Seattle, he and his family moved to Maryland where he completed a pediatric residency and chief residency at the University of Maryland. He started a genetics residency at the NIH in 2004 and stayed on in the lab of Dr. William Gahl to work on rare heritable and metabolic disorders. He joined the Undiagnosed Diseases Program at its founding in 2008, became deputy director of clinical genomics in the UDP and the NHGRI Office of the Clinical Director in 2014, NHGRI associate investigator in 2019 and senior clinician in 2022.

Scientific Summary

Dr. Adams’s research interests span multiple heritable rare disorders including oculocutaneous albinism and disorders of free sialic acid metabolism. Dr. Adams conducted an albinism natural history study from 2009 to 2019, culminating in a pilot treatment study of the drug nitisinone (conducted with Dr. Brian Brooks). Current research focuses on the molecular causes of heritable pigment disorders, particularly in cases where causative DNA changes cannot be identified in persons with clinically diagnosed albinism.

Within the Undiagnosed Diseases Program, Dr. Adams’s work focuses on informatics and bioinformatics tools to make diagnoses and develop translational research around families affected by significant illnesses that remain undiagnosed despite extensive medical workup and genome sequencing. Approaches include developing genomic variant analysis pipelines for prioritizing potential research targets and using data sharing protocols to create and maintain global rare-diseases research and clinical communities.


Loftus SK, Lundh L, Watkins-Chow DE, Baxter LL, Pairo-Castineira E, Nisc Comparative Sequencing Program, Jackson IJ, Oetting WS, Pavan WJ, Adams DR. A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus. Hum Mutat. 2021 Oct;42(10):1239-1253. doi: 10.1002/humu.24257. Epub 2021 Aug 1. 

Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium. Free sialic acid storage disorder: Progress and promise. Neurosci Lett. 2021 Jun 11;755:135896. doi: 10.1016/j.neulet.2021.135896. Epub 2021 Apr 20. 

Adams D, Toro C, Loscalzo J. Novel Approaches to Diseases of Unknown Etiology. In: Loscalzo J, Fauci A, Kasper D, Hauser S, Longo D, Jameson J. eds. Harrison's Principles of Internal Medicine 21e. McGraw Hill; 2022.

Gahl, WA, Adams, D.R.; Markello, T.C.; Toro, C.; Tifft, C.J. (2019). Genetic approaches to rare and undiagnosed diseases. Nelson textbook of pediatrics. R. Kliegman. Philadelphia, PA, Elsevier: 2 volumes (lxxv, 3827, I3821-I3140 pages).

Adams DR, Menezes S, Jauregui R, Valivullah ZM, Power B, Abraham M, Jeffrey BG, Garced A, Alur RP, Cunningham D, Wiggs E, Merideth MA, Chiang PW, Bernstein S, Ito S, Wakamatsu K, Jack RM, Introne WJ, Gahl WA, Brooks BP. One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B. JCI Insight. 2019 Jan 24;4(2):e124387. doi: 10.1172/jci.insight.124387. Epub ahead of print. 

Adams DR, Eng CM. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med. 2018 Oct 4;379(14):1353-1362. doi: 10.1056/NEJMra1711801. 

Last updated: August 8, 2022