Walter E. Kaufmann, MD

Ravenel Boykin Curry Chair in Genetic Therapeutics
Professor of Neurology

WalterKaufmannDr. Walter Kaufmann is a clinician and researcher with a focus on developing novel therapies for genetic disorders associated with intellectual disability and autism. He joined the Greenwood Genetic Center in 2015 as the Ravenel Boykin Curry Chair in Genetic Therapeutics with the goal of leading the Center's initiatives regarding the treatment of genetic disorders. Before arriving to the Greenwood Genetic Center, Dr. Kaufmann was a Professor of Neurology at Harvard Medical School and a Simons Investigator at Massachusetts Institute of Technology’s Simons Center for the Social Brain. He has also held faculty appointments at the University of Chile School of Medicine and the Johns Hopkins University School of Medicine.

His research uses a multidisciplinary approach to understanding the basis of cognitive and behavioral problems in children with genetic disorders associated with intellectual disability and autism spectrum disorder, with an emphasis on developing new therapeutic interventions. Dr. Kaufmann’s work includes laboratory investigations of molecular pathways, neuroimaging, animal models of disease and clinical trials of targeted, disease-modifying therapies for Rett syndrome, fragile X syndrome, Down syndrome, and idiopathic autism spectrum disorder. Dr. Kaufmann is also the Chair of RettSearch, the consortium of Rett clinical researchers, as well as one of the leaders of the FXCRC, the Fragile X Clinical & Research Consortium.

Dr. Kaufmann has published more than 200 journal articles, most of them original publications. He has also served on several editorial boards and as reviewer of over 90 scientific journals. His work has been funded through numerous major grants from the NIH, Department of Defense, private foundations, and industry. Dr. Kaufmann is a member of the Society for Neuroscience, the International Brain Research Organization, the Child Neurology Society, the Proteome Society, the American Society of Human Genetics and the Academic Drug Discovery Consortium.

Selected Publications

  • Chang L, Douet V, Bloss C, Lee K, Pritchett A, Jernigan TL, Akshoomoff N, Murray SS, Frazier J, Kennedy DN, Amaral DG, Gruen J, Kaufmann WE, Casey BJ, Sowell E, Ernst T; Pediatric Imaging, Neurocognition, and Genetics (PING) Study Consortium. Gray matter maturation and cognition in children with different APOE ε genotypes. Neurology. 2016 Jul 13. [Epub ahead of print]
  • O'Leary HM, Marschik PB, Khwaja OS, Ho E, Barnes KV, Clarkson TW, Bruck NM, Kaufmann WE (2015) Increased autonomic response to pain in Rett syndrome. Dev Neurorehabil. Oct 12:1-7.

  • Barnes KV, Coughlin FR, O'Leary HM, Bruck N, Bazin GA, Beinecke EB, Walco AC, Cantwell NG, Kaufmann WE (2015) Anxiety-like behavior in Rett syndrome: Characteristics and assessment by anxiety scales. J Neurodevelop Disord. 7(1):30.

  • O'Driscoll OM, Lima MP, Kaufmann WE, Bressler JP (2015) Methyl CpG binding protein 2 deficiency enhances expression of inflammatory cytokines by sustaining NF-κB signaling in myeloid derived cells. J Neuroimmunol 283: 23-29.

  • Newman E, Thompson WK, Bartsch H, Hagler Jr DJ, Chen C-H, Brown TT, Kuperman JM, McCabe C, Chung Y, Libiger O, Akshoomoff N, Bloss CS, Casey BJ, Chang L, Ernst TM, Frazier JA, Gruen JR, Kennedy DN, Murray SS, Sowell ER, Schork N, Kenet T, Kaufmann WE, Mostofsky S, Amaral DG, Dale AM, Jernigan TL (2015) Anxiety is related to indices of cortical maturation in typically developing children and adolescents. Brain Struct Funct: July 17.

  • Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A (2015) Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. Am J Med Genet A: Apr 25.

  • Noble KG, Houston SM, Bartsch H, Kan E, Kuperman JM, Akshoomoff N, Bloss CS, Casey BJ, Chang L, Ernst TM, Frazier JA, Gruen JR, Kaufmann WE, Kennedy DN, Murray SS, Schork N, Dale AM, Jernigan TL, Sowell ER for the Pediatric Imaging, Neurocognition, and Genetics Study (2015) Family Income, parental education and brain development in children and adolescents. Nat Neurosci 18: 773-778.

  • Oberman L, Boccuto L, Cascio L, Sarasua S, Kaufmann WE (2015) Autism spectrum disorder in Phelan-McDermid syndrome: Initial characterization and genotype-phenotype correlations. Orphanet J Rare Dis 10: 105.

  • Talisa VB, Boyle L, Crafa D, Kaufmann WE (2014) Autism and anxiety in males with Fragile X syndrome: an exploratory analysis of neurobehavioral profiles from a parent survey. Am J Med Genet 164: 1198-1203.

  • Thomas AG, O'Driscoll CM, Bressler J, Kaufmann W, Rojas CJ, Slusher BS (2014) Small molecule glutaminase inhibitors block glutamate release from stimulated microglia. Biochem Biophys Res Commun 443: 32-36.

  • Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML (2014) Methyl-CpG-binding protein 2 (MEPC2) mutation type is associated with disease severity in Rett Syndrome. J Med Genet 51: 152-158.

  • Khwaja OS, Ho ES, Barnes KV, O'Leary HM, Pereira L, Finkelstein Y, Nelson CA, Vogel-Farley V, DeGregorio G, Holm IA, Khatwa U, Kapur K, Alexander ME, Finnegan DM, Cantwell NG, Walco AC, Rappaport LA, Gregas M, Fichorova RN, Shannon MW, Sur M, Kaufmann WE (2014) Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human-IGF1) for the treatment of Rett syndrome. Proc Natl Acad Sci U S A 111: 4596-4601.

  • Ladd-Acosta C, Hansen KD, Briem E, Fallin MD, Kaufmann WE, Feinberg AP (2014) Common DNA methylation alterations in multiple brain regions in autism. Mol Psychiatry 19: 862-871.

  • Papazoglou A, Jacobson L, McCabe M, Kaufmann W, Zabel TA (2014) To ID or not to ID? Changes in classification rates of intellectual disability using DSM-5. Intellect Dev Disabil 52: 165-174.

  • Berry-Kravis E, Hessl D, Abbeduto L, Reiss AL, Beckel-Mitchener A, Urv TK, The Outcome Measures Working Groups (2013) Outcome measures for clinical trials in Fragile X syndrome. J Dev Behav Pediatr 34: 508–522.

  • Marschik P, Kaufmann WE, Sigafoos J, Wolin T, Zhang D, Bartl-Pokorny KD, Pini G, Zappella M, Tager-Flusberg H, Einspieler C, Johnston MV (2013) Changing the perspective on early development of Rett syndrome. Res Dev Disabil 34: 1236-1239.

  • Brown TT, Kuperman JM, Chung YH, Erhart M, McCabe C, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Gruen JR, Kaufmann WE, Kenet T, Kennedy DN, Murray SS, Sowell ER, Jernigan TL, Dale AM, for the Pediatric Imaging, Neurocognition, and Genetics Study (2012) Neuroanatomical assessment of biological maturity. Curr Biol 22: 1693-1698.

  • Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman RJ, Kaufmann WE, Picker J, Coffey SM, Skinner D, Johnson V, Miller R, Berry-Kravis E (2012) Fragile X-associated Disorders: screening and recommendations for early identification. Pediatrics 130: 1126-1135.


Book Chapters

  • Tarquinio DC, Kaufmann WE (2014). Targeted treatments in Rett syndrome. In: Hagerman R, Hendren R (Eds). Chapter 6. New developments in treatment for neurodevelopmental disorders: targeting neurobiological mechanisms. New York, NY: Oxford University Press, pp. 129-158.

  • Grice DE, Kolevzon A, Kaufmann WE, Buxbaum JD (2013) Novel therapeutics in childhood onset psychiatric disorders. In: Neurobiology of Mental Illness. New York: Oxford University Press, pp. 1061-1063.

  • Baird G, Cook EH, Happe FG, Harris JC, Kaufmann WE, King BH, Lord CE, Piven J, Rogers SJ, Spence SJ, Swedo SE, Volkmar F, Wetherby AM, Wright HH (2013) Neurodevelopmental disorders. In: American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5). Washington, D.C.: American Psychiatric Publishing, pp. 31-86.



Contact Information

Office (864) 672-6895
Fax (864) 250-9582

Education and Appointments

  • M.D., University of Chile School of Medicine, 1982
  • Residency/Clinical Fellowship (Pediatrics/Child Neurology), Roberto del Río Hospital, University of Chile School of Medicine, 1983-86
  • Instructor, University of Chile School of Medicine, 1983-1986
  • Research Fellowship (Neurology), Beth Isreal Hospital/Harvard Medical School, 1986-1988
  • Residency/Clinical Fellowship (Anatomic Pathology), Boston Children's Hospital/Harvard Medical School, 1988-1989
  • Residency/Clinical and Research Fellowship (Anatomic Pathology and Neuropathology), Johns Hopkins University School of Medicine, 1989-1992
  • Instructor, Johns Hopkins School of Medicine, 1992-1995
  • Assistant Professor (Pathology, Neurology, Pediatrics and Psychiatry), Johns Hopkins School of Medicine, 1995-1999
  • Associate Professor (Pathology, Neurology, Pediatrics, Psychiatry, and Radiology), Johns Hopkins School of Medicine, 1999-2007
  • Professor, (Pathology, Neurology, Pediatrics, Psychiatry and Radiology) Johns Hopkins School of Medicine, 2007-2012
  • Senior Associate (Neurology), Boston Children's Hospital, 2012-2015
  • Visiting Professor (Neurology), Harvard Medical School, 2012-2013
  • Professor (Neurology), Harvard Medical School, 2013-2015
  • Investigator, Simons Center for the Social Brain, Massachusetts Institute of Technology, 2013-2015
  • Ravenel Boykin Curry Chair in Genetic Therapeutics, Professor of Neurology, Greenwood Genetic Center, 2015-present