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Senior Clinician

NIH Undiagnosed Diseases Program


NIH Undiagnosed Diseases Program


M.D. Xaveriana University, School of Medicine, Bogota, Colombia


Dr. Toro received his medical degree from Javeriana University School of Medicine in Bogota, Colombia. He completed his residency in Clinical Neurology from the University of Minnesota Hospitals and Clinics and is Board Certified in Clinical Neurology by the American Board of Psychiatry and Neurology. Dr. Toro came to NINDS/NIH in 1990 as a Visiting Associate in the Medical Neurology Branch, and subsequently was a tenure tracked scientist in the Human Motor Control Section (HMCS), NINDS. Dr. Toro served as a clinical neurologist consultant specialized in the evaluation and management of patients with movement disorders, atypical neurodegeneration, and undiagnosed neurological disorders.

Scientific Summary

Since 2009, Dr. Toro has served as the primary neurologist for the NIH Undiagnosed Diseases Program (UDP) and has contributed to the success of program’s multidisciplinary translational research endeavors in the diagnosis of conditions associated with the participants. Dr Toro mentors genetics fellows, students and residents in the program and has been instrumental in projecting the UDP mission to other Institutes at NIH and to academic institutions.

He is a skilled developer and has successfully implemented a multitude of software approaches to the visualization and interpretation of DNA variants generated by next generation sequencing. Dr. Toro has a keen interest in movement disorders including parkinsonism, ataxia, myoclonus, tremor, and dystonia as well as monogenic disorders associated with neurodegeneration.


Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, et al; C4RCD Research Group. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Hum Mol Genet. 2018 Feb 15;27(4):691-705.

Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 2011 Oct;7(10):e1002325.

Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, et al. Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. Neurol Genet. 2019 Jan 24;5(1):e305.

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 DR Markello TC, Toro C, Tifft CJ. Genetic approaches to rare and undiagnosed diseases. Nelson textbook of pediatrics. R. Kliegman. Philadelphia, PA, Elsevier: 2 volumes lxxv, 3827:I3821-I3140; 2019.

Shanbhag NM, Geschwind MD, DiGiovanna JJ, Groden C, Godfrey R, Yousefzadeh MJ, Wade EA, Niedernhofer LJ, Malicdan MCV, Kraemer KH, Gahl WA, Toro C. Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F. Neurol Genet. 2018 Jun 8;4(3):e240.

Toro C, Zainab M, Tifft CJ. The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment. Neurosci Lett. 2021 Nov 1;764:136195.

Last updated: November 8, 2023