Randi J. Hagerman, M.D.

Tsakopoulos-Vismara Professor and Medical Director, M.I.N.D. Institute; Professor, Department of Pediatrics, School of Medicine

UC Davis M.I.N.D. Institute
2825 50th Street
Sacramento, CA 95817
E-mail:  randi.hagerman@ucdmc.ucdavis.edu

Dr. Hagerman has more than 20 years of experience in the field of neurodevelopmental disorders and fragile X syndrome - the most common inherited cause of mental retardation. Her research focuses on the correlation between an individual's molecular genotype, or genetic make-up, and their physical and behavioral characteristics. She also has a strong clinical and research interest in autism and has conducted research examining the association between autism and fragile X syndrome. Her most recent books, Neurodevelopmental Disorders: Diagnosis and Treatment, and Fragile X Syndrome: Diagnosis, Treatment, and Research, 3rd Edition, were published, respectively, by Oxford University Press in 1999 and Johns Hopkins University Press in 2002.

B.A. University of California, Davis, Davis, California, 1971
M.D. Stanford University School of Medicine, Palo Alto, California, 1975

Hagerman PJ, Greco CM, Hagerman RJ. A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. Cytogenet Genome Res 100: 206-12, 2003. Review of a newly-discovered neurodegenerative disorder in older adults that is caused by the same fragile X gene that gives rise to a neurodevelopmental disorder in childhood.

Leehey MA, Munholz RP, Lang AE, Bruanberg JA, Grisby J, Greco C, Jacquemont S, Tassone F, Lozano AM,  Hagerman PJ, Hagerman RJ.  The Fragile X Premutation Presenting as Essential Tremor.  Arch Neurol 60: 117-212, 2003. This is a case report of two adult males who presented with essential tremor, but they really had FXTAS (Fragile X Tremor Ataxia Syndrome). The course of the syndrome, as well as problems associated with surgery in one of the cases is discussed.

Loesch DZ, Bui QM, Grigsby J, Butler E, Epstein J, Huggins RM, Taylor AK, Hagerman RJ.  Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X.  Neuropsychology 17(4): 646-57, 2003. The effects of a fragile X disorder on executive function impairment were assessed in 144 extended families, which included individuals with fragile X permutation and full mutation and their relatives with fragile X. The most outstanding deficit, occurring especially in males, involved impaired capacity to use an intention to regulate purposeful behavior. Possible mechanisms of the effect of the fragile X permutation on impairments are considered.

Loesch DZ, Huggins RM, Bui Qm, Taylor AK, Pratt C, Epstein J, Hagerman RJ. Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis.  Am J Med Genet 122A(10: 13-23, 2003. This is a paper on cognitive deficits in children and adults with fragile X syndrome and how this relates to the molecular variables including CGG repeats and FMRP levels. A continuum of involvement through different degrees of protein levels is shown.

Hagerman RJ. Fragile X Syndrome. In Allen JP and Vessey JA (eds). Primary Care of the Child with a Chronic Condition, 4th Edition. Mosby Publishing, St. Louis, Missouri. pp 498-510, 2004. Chapter discusses treatment options for children with fragile X.

Hagerman PJ, Hagerman RJ. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Ment Retard Dev Disabil Res Rev 10:25-30, 2004.  Paper reports the effect of this “toxic RNA gain of function” on the brain that may lead to neurological problems and discusses involvement in both children and adults.

Hagerman PJ and Hagerman RJ.  The Fragile-X Premutation: A Maturing Perspective.  Am J Hum Genet 74:805-816, 2004. Paper outlines the pathophysiology of elevated mRNA relative to brain damage.

Hagerman RJ, Leavitt BT, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, and Hagerman PJ.  Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation. Am J Hum Genet 74:1051-1056, 2004. Reports study demonstrating that older females with the premutation may also develop FXTAS.

Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang Lin, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco C, Berry-Kravis E, Tassone F, Hagerman PJ . Penetrance of the fragile X-associated tremor/ataxia syndrome (FXTAS) in a premutation carrier population: Initial results from a California family-based study. JAMA 291(4):460-469, 2004.  The fragile X permutation, which is associated with autism in some carriers, frequently leads to neurological problems in grandfathers.

Loesch DZ, Huggins RM, Hagerman RJ.  Phenotypic Variation and FMRP levels in Fragile X. Ment Retard Dev Disabil Res Rev 10:31-41, 2004. This paper reviews how a deficit of FMRP may lead to cognitive and behavioral problems, including autism and mental retardation.

Jacquemont S, Farzin F, Hall D, Leehey M, Tassone F, Gane L, Zhang L, Grigsby J, Jardini T, Lewin F, Berry-Kravis E, Hagerman PJ, Hagerman RJ.  Aging in Individuals with the FMR1 Mutation. Am J Mental Retardation 109(2):154-164, 2004. Paper reports the aging and the neurological problems that occur in those with the fragile X mutation.

Philofsky A, Hepburn SL, Hayes A, Hagerman R, Rogers SJ.  Linguistic and Cognitive Functioning and Autism Symptoms in Young Children with Fragile X syndrome.  Am J Mental Retardation 109(3):208-218, 2004.  Study confirms that children with fragile X and autism together have more severe language problems than those with fragile X alone.

Hagerman PJ and Hagerman RJ.  The Fragile-X Premutation: A Maturing Perspective.  Am J Hum Genet 74:805-816, 2004.  A review of involvement in premutation carriers.

Hagerman RJ, Leavitt BT, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, and Hagerman PJ. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation. Am J Hum Genet 74:1051-1056, 2004.  The toxic mRNA affect leading to FXTAS occurs in females too.

Cornish KM, Turk J, Wilding J, Sudhalter V, Munir F, Kooy F, Hagerman R. Annotation: Deconstructing the attention deficit in fragile X syndrome: A developmental neuropsychological approach. J of Child Psychology and Psychiatry 45:6 pp 1042-1053, 2004.  A discussion of neuropsychological deficits in fragile X.

Organic Causes of ADHD, Use of Psychopharmaceutical Interventions, Genetic Advances in Autism, and Tourette Syndrome: More Common Than You Think, 60th Annual Brennemann Lectures, San Diego, CA, September 2003.

Pharmacological treatment of fragile X, Fragile X associated tremor/ataxia syndrome (FXTAS) aspects, and Pharmacological interventions in developmental disorders, European Academy for Children with Disorders (EACD), Oslo, Norway October 2003.

Early Development in Fragile X Syndrome, Human Development 298 – Graduate Seminar, UC Davis, October 2003.

Fragile X Syndrome, Neurodevelopmental Disorder Seminar for Psychology Interns and Graduate Students, M.I.N.D. Institute, UC Davis, October 2003.

Fragile X and Autism Spectrum Disorders: Update from the M.I.N.D. Institute, CARE Parent Network, Concord, CA, October 2003.

Advances in Genetic Research: The Interwining of Autism and Fragile X Syndrome, Rochester General Hospital Grand Rounds, Rochester, NY, October 2003.

Diagnosis and Medical Intervention in Autism and Fragile X Syndrome, Children’s Hospital at Strong Grand Rounds, Rochester, NY, October 2003.

Advances in Autism: Practical Implications, Blue Cross Dinner Talk, Stockton, CA, October 2003.

Neurodevelopment to Neurodegeneration: Two faces of the FX Gene, Waisman Center 30th Anniversary, Madison, WI, October 2003.

Autism Phenotyping at the M.I.N.D. Institute, Society for the Study of Behavioral Phenotypes (SSBP), Newcastle, England, November 2003.

Advances in Autism: Practical Implications, Blue Cross Dinner Talk, Modesto, CA, November 2003.

Multidisciplinary Case Presentations, Valley Mountain Regional Center, Stockton, CA, December 2003.

Genetic Causes of Mental Retardation and Psychopharmacological Intervention, Dubai Department of Health & Hospitals, Dubai, United Arab Emirates, January 2004.

Fragile X Syndrome and FXTAS in Al Ain, UAE University of United Arab Emirates, Dubai, United Arab Emirates, January 2004.

Genetic Causes of Autism: Recent Developments,  Dubai Autism Center, Dubai, United Arab Emirates,  January 2004.

Fragile X Syndrome, Human Genetics Class MCB 162, UC Davis, February 2004.

Fragile X Syndrome, California School Nurses Organization, Sacramento, CA, February 2004.
Genetic Advances in Autism, Kern Autism Networks Conference, Bakersfield, CA, February 2004.

Neurodevelopment and Neurodegenerative: Two Faces of the Fragile X Gene FMR1, Frontiers in Neuroscience, UC San Francisco, San Francisco, CA, March 2004.

Nonverbal Learning Disorders in Fragile X and other Neurodevelopmental Disorders, Nonverbal Learning Disorders Association (NLDA) Conference, San Francisco, CA, March 2004.

Autism Update: Genetic Causes and Treatment Issues, Developmental Fragile X Center Opening, Denver, CO, March 2004.

Fragile X-associated tremor/ataxia syndrome: An aging face of the fragile X gene, Frontiers in Neuroscience, UC San Francisco, San Francisco, CO, March 2004.

FXTAS: The aging face of the fragile X gene, Baylor University Grand Rounds,Houston, TX, March 2004.

Fragile X tremor/ataxia syndrome, Albert Hospital Grand Rounds, Melbourne, AU, April 2004.

Fragile X and Autism, Royal Children’s Hospital Grand Rounds, Melbourne, AU, April 2004.

New Developments in Fragile X and Autism, La Trobe University, Melbourne, AU, April 2004.

Fragile X and FXTAS: Two faces of fragile X, Murdock Institute, Melbourne, AU, April 2004.

Autism Research: Genetic Causes of Autism, Autism Conference, Santa Barbara, CA,April 2004.

Focus on Autism Research: Genetics of Autism, UCLA Psychiatry Grand Rounds & Rhoda and Bernard G. Sarnat Endowed Lecturer, Los Angeles, CA, April 2004.

Fragile X Studies in Children and Adults, Research Seminar Series, M.I.N.D. Institute, UC Davis, June 2004.

Organic Causes of ADHD, Noon Conference, UC Davis, June 2004.

Genotype-Phenotype Relationships in Fragile X Syndrome, NICHD State of the Art Conference, Washington DC, June 2004.

FXTAS: An Update for Families and Professionals, Adult Aging Issues in Fragile X, An Update on NIH Fragile X Research Centers, International Fragile X Research, Psychopharmacology and Fragile X, and Difficult Cases: Treatment Issues, 9th International NFXF Conference, Washington DC, June 2004.

Diagnosis and Psychopharmacological Intervention for FAS and ARND, FASD Conference, San Jose, CA, June 2004.

Principal Investigator:  Genotype-Phenotype Relationships in Fragile X Families, NICHD, 06/15/98 to 05/31/06, $326,356 annually. This grant will correlate FMRP and other molecular measures with anthropometric, IQ and behavioral measures in families with FXS.  It will also investigate the features of premutation carriers of fragile X syndrome.

Co-Investigator:  Expression of the Fragile X Gene, NICHD, 04/01/02 to 03/31/07, $173,817 annually.  This project is designed to examine the mechanisms underlying both the silencing of the FMR1 gene and the increase in FMR1 mRNA observed for carriers of premutation FMR1 alleles.

Co-Investigator:  Neurological Phenotype in FMR1 Premutation Carriers, NINDS, 07/01/02-06/30/06, $232,982 annually.  This project represents a three-center consortium established to determine the relationship between premutation carrier status and a newly described neurological phenotype involving tremor, ataxia, and cognitive decline.

Co-Principal Investigator:  Fragile X Research Center, NICHD, 07/01/03 to 06/30/08, $215,136 annually.  This is a multi-center grant through the Mental Retardation Center in Seattle, Washington.  The UC Davis portion of the project will involve a Patient Recruitment and Evaluation core, an Administrative core, and an Anxiety/Psychophysiological research protocol.

Co-Investigator: Action tremor and dementia in male carriers of fragile X, NINDS, 09/15/03 to 06/30/08, $194,594 annually.  This grant evaluates the adult male carriers of fragile X who have problems with tremor and dementia.

Advisory Board of the Fragile X Association of Northern California
Scientific Council of L’Association Mosaiques (Paris)
Advisory Board of the Los Angeles Fragile X Association
Editorial Board of Mental Health Aspects of Developmental Disabilities
Fellow of the International Association for the Scientific Study of Intellectual Disabilities
Member of the Leadership Committee of the M.I.N.D. Institute  
Member of the Committee for Pediatric Research – UC Davis  
Council Member of Western Society of Pediatric Research  
Governing Council,Society for the Scientific Study of Behavioral Phenotypes (SSBP, England) 
Member of SSBP        
Editorial Board of the Journal of Developmental and Behavioral Pediatrics   
FAS Task Force of Santa Clara Advisory Board 

The 2003 Andrew J. Kirch Visiting Scholar at U of Rochester, Rochester, NY  
The Rhoda G. & Bernard G. Sarnat Endowed Lecturer, Cedars Sinai Med. Center, Los Angeles                                         
Distinguished Visiting Professor, La Trobe University, Melbourne, Australia   
School of Medicine Faculty Research Award, University of California at Davis
National Fragile X Foundation established the Hagerman Award for Research in FXTAS to honor Randi and Paul Hagerman