Neurogenetics


Daniel Geschwind, M.D. Ph.D.
Director

Brent Fogel, M.D. Ph.D.
Associate Director
Director, Neurogenetics Clinic
Director, Ataxia and Neurogenetics Biobank

Susan Perlman, M.D.
Director of Clinical Trials
Director, Ataxia Clinic
Director, Huntington’s Disease Center of Excellence

   

Clinical and Basic Science Research

The UCLA Department of Neurology Program in Neurogenetics, led by Dr. Daniel Geschwind, Director, Dr. Brent Fogel, Associate Director, and Dr. Susan Perlman, Director of Clinical Trials, is nationally and internationally recognized for excellence in the clinical diagnosis and management of neurodevelopmental and neurogenetic disease. UCLA is a tertiary referral center for the State of California's Genetic Handicapped Persons Program (GHPP) and receives referrals from across the United States, Canada, Mexico, and the Pacific Rim. The UCLA Neurogenetics Clinic, directed by Dr. Brent Fogel, utilizes state-of-the-art technologies including clinical exome sequencing to diagnose rare neurogenetic disorders including various forms of leukodystrophy and spastic paraparesis as well as metabolic and mitochondrial conditions affecting the nervous system. The UCLA Ataxia Center, directed by Dr. Susan Perlman, is one of the first nationally recognized ataxia programs, and sees 150-200 new patients per year as well as a clinical population of more than 2,500 affected individuals and families with all forms of ataxia both genetic and non-genetic. The program also houses the Huntington's Disease Society of America (HDSA) Center of Excellence at UCLA.

Clinicians and researchers at UCLA are routinely involved in both national and international research collaborations on a variety of molecular studies and clinical trials involving various neurogenetic disorders such as Huntington's disease, numerous dominant and recessive Spinocerebellar Ataxias, Friedreich Ataxia, and Ataxia Telangiectasia. Researchers in the Neurogenetics Program are also working to identify new genes which cause both rare and common neurologic diseases using cutting-edge genomic technologies including exome and genome sequencing. The work within the program is funded by multiple grants from the National Institute of Health and several private foundations covering a wide range of disease including Autism, Friedreich Ataxia, Spinocerebellar Ataxia, Huntington's Disease, Parkinson Disease, Alzheimer Disease, and Frontotemporal Dementia, among others. The program is also committed to the clinical and scientific education of medical students, graduate students, residents, clinical fellows, and post-doctoral researchers.

 

For additional information about Neurogenetic Program Please visit the web links below

Clinical Appointments

 (310) 794-1195
 (310) 794-7491


Clinical Research and Trials

 
Spinocerebellar Ataxia and Other Neurogentic Disorders

Molecular Genetic Studies in Disease of the Brain Affecting Movement and Balance
IRB# 10-001577
Research Study
PI: Brent L. Fogel, M.D., Ph.D.
Disease(s): Cerebellar Ataxia or other movement disorders due to a known, unknown, or suspected genetic cause
Status: Recruiting
Contact: Brent Fogel, M.D., Ph.D. bfogel@ucla.edu

Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History and Genetic Modifiers in Spinocerebellar Ataxia (SCA)
IRB# 10-001564
Research Study
PI: Susan L. Perlman M.D.
Disease(s): Spinocerebellar ataxia types 1, 2, 3, and 6 (SCA1, SCA2, SCA3, and SCA6)
Status: Recruiting
ClinicalTrials.gov link: http://www.clinicaltrials.gov/ct2/show/NCT01060371
Contact: Brian Clemente, PhD 310/794-1225 bclemente@mednet.ucla.edu

Clinical and imaging findings in Multiple System Atrophy and Spinocerebellar Ataxia
IRB# 11-001853
Research Study
PI: Brent L. Fogel, M.D., Ph.D.
Disease: Multiple System Atrophy (MSA), Spinocerebellar Ataxia Type 2 (SCA2)
Status: Not Recruiting
Contact: Brent Fogel, M.D., Ph.D. bfogel@ucla.edu
 

Friedreich Ataxia

Proof of concept study in buccal cells of Friedreich's Ataxia patients
IRB# 13-000478
Clinical Trial
PI: Susan L. Perlman M.D.
Disease: Friedreich ataxia
Status: Completed
Contact: Brian Clemente, PhD 310/794-1225 bclemente@mednet.ucla.edu

Phase 2b study of EPI-743 in Friedreich's Ataxia
IRB# 12-001639
Clinical Trial
PI: Susan L. Perlman M.D.
Disease: Friedreich ataxia
Status: Not Recruiting
ClinicalTrials.gov link: http://www.clinicaltrials.gov/ct2/show/NCT01728064
Contact: Brian Clemente, PhD 310/794-1225 bclemente@mednet.ucla.edu

Phase 1 study of OX-1 in Friedreich's Ataxia
IRB# 13-001061
Clinical Trial
PI: Susan L. Perlman M.D.
Disease: Friedreich ataxia
Status: Not Recruiting
ClinicalTrials.gov link: https://www.clinicaltrials.gov/ct2/show/NCT01898884
Contact: Brian Clemente, PhD 310/794-1225 bclemente@mednet.ucla.edu

Clinical Outcome Measures in Friedreich Ataxia
IRB# 11-001240
Research Study
PI: Susan L. Perlman M.D.
Disease: Friedreich ataxia
Status: Recruiting
Contact: Brian Clemente, PhD 310/794-1225 bclemente@mednet.ucla.edu
 

Huntington's Disease

Brain and Nerve Changes that might PREDICT onset of Huntington's Disease
IRB# 10-000168
Research Study
PI: Susan L. Perlman M.D.
Disease: Presymptomatic gene-positive for Huntington's disease
Status: Not Recruiting
ClinicalTrials.gov link: http://www.clinicaltrials.gov/ct2/show/study/NCT00051324
Contact: Brian Clemente 310/794-1225 bclemente@mednet.ucla.edu

Validation of the HD-HRQOL (Huntington's Disease quality of life measure)
IRB# 12-000743
Research Study
PI: Susan L. Perlman M.D.
Disease: Huntington's disease
Status: Not Recruiting
Contact: Brian Clemente 310/794-1225 bclemente@mednet.ucla.edu

Enroll-HD: A prospective Registry Study in Global Huntington's Disease (HD) Cohort
IRB# 12-000755
Research Study
PI: Susan L. Perlman M.D.
Disease: Huntington's disease
Status: Recruiting
ClinicalTrials.gov link: http://www.clinicaltrials.gov/ct2/show/NCT01574053
Contact: Brian Clemente 310/794-1225 bclemente@mednet.ucla.edu

Heart rate variability and trauma symptomatology in Huntington's Disease
IRB# 12-000359
Research Study
PI: Susan L. Perlman M.D.
Disease: Huntington's disease
Status: Not Recruiting
Contact: Brian Clemente 310/794-1225 bclemente@mednet.ucla.edu

Phase 2 study of Pridopidine Huntington's Disease
IRB# 14-000043
Clinical Trial
PI: Susan L. Perlman M.D.
Disease: Huntington's disease
Status: Recruiting
ClinicalTrials.gov link: http://www.clinicaltrials.gov/ct2/show/NCT02006472
Contact: Brian Clemente 310/794-1225 bclemente@mednet.ucla.edu
 

For additional information regarding Neurogenetic Research and Clinical Trials, please visit the web link below