Richard O.

Richard O. Jones headshot.
Administrative Laboratory Manager, Genetics Laboratories
Phone: 443-923-2758
Kennedy Krieger Institute

707 N. Broadway
Baltimore, MD 21205
United States

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Dr. Jones is currently the administrative laboratory manager for the Genetics Laboratories at the Kennedy Krieger Institute, as well as a research associate in the Department of Neurology at The Johns Hopkins University School of Medicine. He is a member of the Society for Neuroscience, the American Association for Clinical Chemistry and the Clinical Laboratory Management Association.


Dr. Jones received a bachelor's of science from the University of Manchester (UK) in 1985, and a doctoral degree from the University of Manchester in 1989. After obtaining his doctoral degree, Dr. Jones spent a year as a Royal Society Fellow at Shinshu Universuty in Matsumoto, Japan. In 1990, he was appointed a research fellow in the Department of Surgery at the University of Maryland at Baltimore (UMAB). In 1994, Dr. Jones became an assistant professor of surgery at UMAB. He joined the Hopkins/Kennedy Krieger Institute faculty in 1997. Dr. Jones is currently the Director of the Peroxisomal Diseases Section in the Genetics Laboratories at the Kennedy Krieger Institute, as well as a research associate in neurology at Johns Hopkins.


Dr. Jones' scientific interests lie in the field of peroxisomal disorders. The primary disorder he is concerned with is X-linked adrenoleukodystrophy (X-ALD). Elevated plasma levels of very long chain fatty acids (VLCFA) are diagnostic of X-ALD. An assay for plasma VLCFA was developed in this laboratory and is now used by many other laboratories. Use of this assay has identified more than 2500 patients with peroxisomal disorders. It is also used for prenatal diagnosis, and more than 500 pregnancies have been monitored as a result of it. This laboratory is a major reference laboratory for peroxisomal disorders both nationally and internationally.

The major research objective of this laboratory is to develop an effective therapy for X-ALD and other peroxisomal disorders, a goal which is reinforced daily by contact with patients and their families. Dr. Jones has been  involved in studies that evaluate the use of Lorenzo's oil therapy in the treatment of X-ALD in both children and adults. He has also been involved in the development of methods to allow for screening for X-ALD and other peroxisomal disorders in blood spots obtained from newborn babies.  He continues to work on other pharmacological approaches to the treatment of X-ALD and other peroxisomal disorders. 

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Research Publications

Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CWT, Pizzino A, Schrader M, Wanders RJA, Vanderver A, Waterham HR (2017). ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. J Med Genet. 54(5), 330-337.

Ahmed MA, Kartha RV, Brundage RC, Cloyd J, Basu C, Carlin BP, Jones ROMoser ABFatemi ARaymond GV (2016). A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy. Br J Clin Pharmacol. 81(6), 1058-66.

Bacino C, Chao YH, Seto E, Lotze T, Xia F, Jones ROMoser A, Wangler MF (2015). A homozygous mutation in <i>PEX16</i> identified by whole-exome sequencing ending a diagnostic odyssey. Mol Genet Metab Rep. 5, 15-18.

Venn-Watson SK, Parry C, Baird M, Stevenson S, Carlin K, Daniels R, Smith CR, Jones R, Wells RS, Ridgway S, Jensen ED (2015). Increased Dietary Intake of Saturated Fatty Acid Heptadecanoic Acid (C17:0) Associated with Decreasing Ferritin and Alleviated Metabolic Syndrome in Dolphins. PLoS One. 10(7), e0132117.

DeFilippis AP, Rai SN, Cambon A, Miles RJ, Jaffe AS, Moser ABJones RO, Bolli R, Schulman SP (2014). Fatty acids and TxA(2) generation, in the absence of platelet-COX-1 activity.Nutr Metab Cardiovasc Dis. 24(4), 428-33.

Theda C, Gibbons K, Defor TE, Donohue PK, Golden WC, Kline AD, Gulamali-Majid F, Panny SR, Hubbard WC, Jones RO, Liu AK, Moser ABRaymond GV (2014). Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible. Mol Genet Metab. 111(1), 55-7.

Sandlers Y, Moser AB, Hubbard WC, Kratz LEJones RORaymond GV (2012). Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy. Mol Genet Metab. 105(3), 416-20.

Paker AM, Sunness JS, Brereton NH, Speedie LJ, Albanna L, Dharmaraj S, Moser ABJones RORaymond GV (2010). Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial. Neurology. 75(9), 826-30. 

Hubbard WC, Moser ABLiu ACJones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF Jr, Macaya D, Turgeon CT, Tortorelli S, Raymond GV (2009). Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 97(3), 212-20. 

Steinberg S, Jones R, Tiffany C, Moser A (2008). Investigational methods for peroxisomal disorders. Curr Protoc Hum Genet. Chapter 17, Unit 17.6.

Raymond GVJones ROMoser AB (2007). Newborn screening for adrenoleukodystrophy: implications for therapy. Mol Diagn Ther. 11(6), 381-4. 

Moser HWRaymond GV, Lu SE, Muenz LR, Moser AB, Xu J, Jones RO, Loes DJ, Melhem ER, Dubey P, Bezman L, Brereton NH, Odone A (2005). Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch Neurol. 62(7), 1073-80.