Christopher M. Gomez, MD PhD

Christopher M. Gomez MD PhD has worked in the field of genetic disorders of the neuromuscular junction (congenital myasthenic syndromes) and cerebellum for more than 25 years. Dr. Gomez’s long term goals are to help characterize the pathogenic mechanisms that cause ataxia, develop treatments and to identify disease and stage-specific biomarkers of ataxia. Dr. Gomez is an expert in neurogenetic disorders, gait and balance disorders, and in the diagnosis and treatment of patients with ataxias -- a family of rare neurodegenerative diseases. Since 1991, Dr. Gomez has been on the medical and research advisory board of the National Ataxia Foundation. He is past chair of the Neurogenetics Section of the American Academy of Neurology. Dr. Gomez's laboratory research concentrates on the molecular and cellular mechanisms of neurodegenerative disease--with a focus on the means by which genetic mutations in ion channels or other essential proteins lead to dominantly inherited neurodegenerative diseases. His research has resulted in more than 50 peer-reviewed publications in scientific journals.



Dr. Gomez established The University of Chicago Ataxia Center in 2006 as a specialty clinic and research center devoted to the diagnosis, treatment, and management of ataxias, and as focal points for translational and clinical research. Dr. Gomez has over 20 years of expertise in the evaluation and treatment of patients with diverse forms of degenerative ataxia.



Dr. Gomez is a founding member of the Cooperative Ataxia Group, a national consortium of ataxia specialists that launched the fi rst rating scale and natural history studies for Friedreich’s Ataxia (D. Lynch, PI). He is also a member (UC site) of the newly funded Rare Disease Clinical Research Network for Autosomal Dominant Ataxias (T. Ashizawa, PI). By assembling teams composed of physiologists, neuro-imagers and geneticists, Dr. Gomez has been involved since 1993 in genetic, phenotypic, and genotype-phenotype and studies of patients with a wide range of ataxia types.



Dr. Gomez helped characterize spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 and discovered SCA26. In the laboratory Dr. Gomez studies the disease process caused by the SCA6 and SCA26 mutations and looks for disease and stage-specific biomarkers cerebrospinal fluid of SCA patients.

University of California
Los Angeles, CA
Fellowship

The University of Chicago
IL
Residency

Michael Reese Hospital
Chicago, IL
Internship

The University of Chicago
IL

The University of Chicago
IL
Ph.D. Immunology

The University of Chicago
IL
B.A. Biology

Correction: The Transcription Factor, a1ACT, Acts Through a MicroRNA Network to Regulate Neurogenesis and Cell Death During Neonatal Cerebellar Development.
Correction: The Transcription Factor, a1ACT, Acts Through a MicroRNA Network to Regulate Neurogenesis and Cell Death During Neonatal Cerebellar Development. Cerebellum. 2024 Apr; 23(2):876.
PMID: 37198370

Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study.
Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study. Cerebellum. 2024 Apr; 23(2):601-608.
PMID: 37428409

Correction: The Transcription Factor, a1ACT, Acts Through a MicroRNA Network to Regulate Neurogenesis and Cell Death During Neonatal Cerebellar Development.
Correction: The Transcription Factor, a1ACT, Acts Through a MicroRNA Network to Regulate Neurogenesis and Cell Death During Neonatal Cerebellar Development. Cerebellum. 2023 May 18.
PMID: 37198370

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. Neurology. 2023 01 31; 100(5):e543-e554.
PMID: 36289003

Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design.
Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design. Neurology. 2022 Oct 03; 99(14):e1499-e1510.
PMID: 35817567

HER2 c-Terminal Fragments Are Expressed via Internal Translation of the HER2 mRNA.
HER2 c-Terminal Fragments Are Expressed via Internal Translation of the HER2 mRNA. Int J Mol Sci. 2022 Aug 23; 23(17).
PMID: 36076950

The Transcription Factor, a1ACT, Acts Through a MicroRNA Network to Regulate Neurogenesis and Cell Death During Neonatal Cerebellar Development.
The Transcription Factor, a1ACT, Acts Through a MicroRNA Network to Regulate Neurogenesis and Cell Death During Neonatal Cerebellar Development. Cerebellum. 2023 Aug; 22(4):651-662.
PMID: 35729466

CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. EMBO Mol Med. 2021 11 08; 13(11):e14095.
PMID: 34632710

Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors.
Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors. Mov Disord. 2021 12; 36(12):2922-2931.
PMID: 34424581

Inertial Sensor Algorithms to Characterize Turning in Neurological Patients With Turn Hesitations.
Inertial Sensor Algorithms to Characterize Turning in Neurological Patients With Turn Hesitations. IEEE Trans Biomed Eng. 2021 09; 68(9):2615-2625.
PMID: 33180719

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