Randi Hagerman, M.D. - IDDRC Investigator

Randi Hagerman, M.D.

Medical Director, UC Davis MIND Institute, Distinguished Professor, Endowed Chair in Fragile X Research, Department of Pediatrics, UC Davis School of Medicine
UC Davis MIND Institute
2825 50th Street, Room 2221
Sacramento, CA 95817


Phone: 916-703-0247/ Fax: 916-703-0240
E-mail: rjhagerman@ucdavis.edu 

Areas of Interest

Targeted treatments in fragile X syndrome (FXS), Autism Spectrum Disorders and FXTAS, Premutation involvement at all ages, Aging studies in FXS and FXTAS and molecular-clinical correlations in those with fragile X mutations

Research

Dr. Randi Hagerman is interested in a variety of treatments for children with neurodevelopmental disorders including fragile X syndrome (FXS), premutation involvement and autism spectrum disorders (ASD). She is currently carrying out several controlled trials of targeted treatments for FXS including ganaxolone, sertraline, AFQ056 and RO491753; the latter two are mGluR5 antagonists which will also likely be helpful for premutation involvement and in children with ASD. The combination of targeted treatments and education/behavioral interventions is also an important research endeavor that is highlighted in our IDDRC, specifically the combination of parent implemented language intervention combined with lovastatin, another targeted treatment for FXS. Studies regarding premutation involvement have focused on comorbidities, prevention and treatment of those with the fragile X-associated tremor/ataxia syndrome (FXTAS). She has completed a memantine study and will carry out an allopregnanolone study in the future in those with FXTAS. The premutation neuron is also vulnerable to a variety of environmental toxins and background genetic effects which can enhance the penetrance of clinical involvement. The role of mitochondrial dysfunction in premutation involvement and mechanisms of RNA toxicity are studied jointly with a molecular team including Drs. Paul Hagerman, Flora Tassone, Isaac Pessah and Cecilia Guilivi.

Current IDDRC Projects

  • Genotype-Phenotype Relationships in Fragile X Families, NICHD, R01HD036071
  • Treatment of Fragile X Syndrome with a Neuroactive Steroid, DOD, PR101054
  • Controlled Trial of Sertraline in Young Children with Fragile X Syndrome, HRSA, R40MC22641

Recent Representative Publications

Leigh MJ, Nguyen DV, Mu Y, Winarni TI, Schneider A, Chechi T, Polussa J, Doucet P, Tassone F, Rivera SM, Hessl D, Hagerman RJ. (2013). A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile X syndrome. J Dev Behav Pediatr. 34(3):147-155.

Hagerman R, Hagerman P.  (2013). Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome (FXTAS). Lancet Neurol . 12(8):786-98.

Hagerman R, Lauterborn J, Au J, Berry-Kravis E. (2012). Fragile X syndrome and targeted treatment trials. Results Probl Cell Differ. 54:297-35.

Tassone F, Long KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB, Hagerman RJ. (2012). FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 4(12):100-13.

Tassone F, Greco CM, Hunsaker MR, Seritan AL, Berman RF, Gane LW, Jacquemont S, Basuta K, Jin LW, Hagerman PJ, Hagerman RJ. (2012). Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav. 11(5):577-85.