Joseph Buxbaum

Joseph D. Buxbaum is an American molecular and cellular neuroscientist, autism researcher, and the Director of the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai.[1] Buxbaum is also, along with Simon Baron-Cohen, the co-editor of the BioMed Central journal Molecular Autism, and is a member of the scientific advisory board of the Autism Science Foundation. Buxbaum is a Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences.[2] He is also the Vice Chair for Research and for Mentoring in the Department of Psychiatry at the Icahn School of Medicine at Mount Sinai.

Education

Buxbaum received his BSc in Math and Biology from Touro College (New York, NY) in 1980. In 1983, he received his MSc in Neurobiology from the Weizmann Institute of Science (Rehovot, Israel), where he also received his PhD in Neurobiology in 1988. Buxbaum completed a Postdoctoral Fellowship in Molecular and Cellular Neuroscience at the Rockefeller University (New York, NY) in 1991.[3]

Research

Buxbaum's research focuses on using genetic and functional methods to identify and characterize genes and pathways involved in autism, schizophrenia, and Alzheimer disease. His research focuses on common and rare genetic variation in neuropsychiatric disorders and has been an early leader in rare genetic variation in psychiatry.[4][5][6][7][8][9][10] With the advent of massively parallel sequencing, this focus on rare variation is now providing profound insights into many neuropsychiatric disorders, including autism, intellectual disability, schizophrenia, bipolar disorder, and Alzheimer disease.

In Alzheimer disease, Buxbaum has conducted several cell-biological and patient-based analyses of APP and A-beta and he and his group continue to do genetic and functional analyses in Alzheimer disease.[11][12][13][14]

In schizophrenia, Buxbaum and his colleagues pioneered early molecular research into white matter/oligodendrocyte abnormalities, and they continue to examine molecular changes in this disorder using large brain cohorts and animal models.[15][16][17]

Buxbaum’s research in autism has shown that genetic risk includes rare and common variation as well as de novo and inherited variation.[18][19][20][21][22][23][24][25] Buxbaum is the founder and co-Principal Investigator of the Autism Sequencing Consortium (ASC),[26] an international group of scientists who share autism samples, data, and ideas in order to accelerate the understanding of the causes and treatments of autism. The ASC is the largest whole-exome sequencing study in autism, with over 22,000 samples analyzed to date.

Buxbaum’s research also extends into cell and animal models. His group has an extensive functional genomics laboratory using yeast two hybrid, cultured cells, and rodent and other animal models in neuropsychiatric disorders. Functional studies in his laboratory have led to pathway discovery in autism, schizophrenia and Alzheimer disease, to more than a dozen animal models,[27][28][29] and to a clinical trial showing preliminary efficacy in patients with a SHANK3 mutation.[30]

Buxbaum has published over 250 peer-reviewed articles[31] that have garnered more than 30,000 citations, with 216 papers having 10 or more citations.[32]

Awards

Buxbaum has received numerous awards for his research. He is a Fellow of the American College of Neuropsychopharmacology (ACNP) and received both their basic and clinical research awards (the Daniel E. Efron Award, for “outstanding basic research contributions to neuropsychopharmacology” in 2005 and the Joel Elkes International Award, “in recognition of an outstanding clinical contribution to neuropsychopharmacology” in 2010). In 2008, he received recognition from the Eden Institute Foundation for his "commitment and dedication to improving the quality of life in individuals with autism.” In 2010, Buxbaum received the Richard D. Todd Memorial Award from the International Society of Psychiatric Genetics for “outstanding contribution to the genetics of child psychiatry.” He has been recognized by the NYU Child Study Center (2004), the UC Davis/MIND Institute (2011), and the Autism Spectrum News (2014 Leadership Award[33]) for his work on the causes and treatment of ASD. Buxbaum received departmental and school-wide awards from Touro College for his BSc, the Wolf Prize and recognition from the Israeli government for his PhD, the James A. Shannon Director’s Award from the NIH when he began as an independent faculty member, and the Dean’s Award for Excellence in Translational Science from Mount Sinai. In 2015, Buxbaum was elected into the National Academy of Medicine, formerly the Institute of Medicine.[34]

References

  1. ↑ "Directors | Icahn School of Medicine". Icahn School of Medicine at Mount Sinai. Retrieved 2016-01-25.
  2. ↑ "Joseph D Buxbaum - The Mount Sinai Hospital". The Mount Sinai Hospital. Retrieved 2016-01-27.
  3. ↑ "Joseph D Buxbaum - Icahn School of Medicine at Mount Sinai". Icahn School of Medicine at Mount Sinai.
  4. ↑ Faham, Malek; Zheng, Jianbiao; Moorhead, Martin; Fakhrai-Rad, Hossein; Namsaraev, Eugeni; Wong, Kee; Wang, Zhiyong; Chow, Shu G.; Lee, Liana (2005-10-11). "Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays". Proceedings of the National Academy of Sciences of the United States of America. 102 (41): 14717–14722. doi:10.1073/pnas.0506677102. ISSN 0027-8424. PMC 1253580Freely accessible. PMID 16203980.
  5. ↑ Sakurai, Takeshi; Reichert, Jennifer; Hoffman, Ellen J.; Cai, Guiqing; Jones, Hywel B.; Faham, Malek; Buxbaum, Joseph D. (2008-08-01). "A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders". Autism Research. 1 (4): 251–257. doi:10.1002/aur.30. ISSN 1939-3806. PMC 2678895Freely accessible. PMID 19360675.
  6. ↑ Cai, Guiqing; Atzmon, Gil; Naj, Adam C.; Beecham, Gary W.; Barzilai, Nir; Haines, Jonathan L.; Sano, Mary; Pericak-Vance, Margaret; Buxbaum, Joseph D. (2012-02-01). "Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease". Neurobiology of Aging. 33 (2): 416–417.e3. doi:10.1016/j.neurobiolaging.2010.03.003. ISSN 1558-1497. PMC 4084881Freely accessible. PMID 20381196.
  7. ↑ Neale, Benjamin M.; Kou, Yan; Liu, Li; Ma'ayan, Avi; Samocha, Kaitlin E.; Sabo, Aniko; Lin, Chiao-Feng; Stevens, Christine; Wang, Li-San (2012-05-10). "Patterns and rates of exonic de novo mutations in autism spectrum disorders". Nature. 485 (7397): 242–245. doi:10.1038/nature11011. ISSN 1476-4687. PMC 3613847Freely accessible. PMID 22495311.
  8. ↑ Poultney, Christopher S.; Goldberg, Arthur P.; Drapeau, Elodie; Kou, Yan; Harony-Nicolas, Hala; Kajiwara, Yuji; De Rubeis, Silvia; Durand, Simon; Stevens, Christine (2013-10-03). "Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder". American Journal of Human Genetics. 93 (4): 607–619. doi:10.1016/j.ajhg.2013.09.001. ISSN 1537-6605. PMC 3791269Freely accessible. PMID 24094742.
  9. ↑ Gaugler, Trent; Klei, Lambertus; Sanders, Stephan J.; Bodea, Corneliu A.; Goldberg, Arthur P.; Lee, Ann B.; Mahajan, Milind; Manaa, Dina; Pawitan, Yudi (2014-08-01). "Most genetic risk for autism resides with common variation". Nature Genetics. 46 (8): 881–885. doi:10.1038/ng.3039. ISSN 1546-1718. PMC 4137411Freely accessible. PMID 25038753.
  10. ↑ De Rubeis, Silvia; He, Xin; Goldberg, Arthur P.; Poultney, Christopher S.; Samocha, Kaitlin; Cicek, A. Erucment; Kou, Yan; Liu, Li; Fromer, Menachem (2014-11-13). "Synaptic, transcriptional and chromatin genes disrupted in autism". Nature. 515 (7526): 209–215. doi:10.1038/nature13772. ISSN 1476-4687. PMC 4402723Freely accessible. PMID 25363760.
  11. ↑ Buxbaum, J. D.; Gandy, S. E.; Cicchetti, P.; Ehrlich, M. E.; Czernik, A. J.; Fracasso, R. P.; Ramabhadran, T. V.; Unterbeck, A. J.; Greengard, P. (1990-08-01). "Processing of Alzheimer beta/A4 amyloid precursor protein: modulation by agents that regulate protein phosphorylation". Proceedings of the National Academy of Sciences of the United States of America. 87 (15): 6003–6006. doi:10.1073/pnas.87.15.6003. ISSN 0027-8424. PMC 54458Freely accessible. PMID 2116015.
  12. ↑ Buxbaum, J. D.; Liu, K. N.; Luo, Y.; Slack, J. L.; Stocking, K. L.; Peschon, J. J.; Johnson, R. S.; Castner, B. J.; Cerretti, D. P. (1998-10-23). "Evidence that tumor necrosis factor alpha converting enzyme is involved in regulated alpha-secretase cleavage of the Alzheimer amyloid protein precursor". The Journal of Biological Chemistry. 273 (43): 27765–27767. doi:10.1074/jbc.273.43.27765. ISSN 0021-9258. PMID 9774383.
  13. ↑ Näslund, J.; Haroutunian, V.; Mohs, R.; Davis, K. L.; Davies, P.; Greengard, P.; Buxbaum, J. D. (2000-03-22). "Correlation between elevated levels of amyloid beta-peptide in the brain and cognitive decline". JAMA. 283 (12): 1571–1577. doi:10.1001/jama.283.12.1571. ISSN 0098-7484. PMID 10735393.
  14. ↑ Naj, Adam C.; Beecham, Gary W.; Martin, Eden R.; Gallins, Paul J.; Powell, Eric H.; Konidari, Ioanna; Whitehead, Patrice L.; Cai, Guiqing; Haroutunian, Vahram (2010-09-01). "Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities". PLOS Genetics. 6 (9): e1001130. doi:10.1371/journal.pgen.1001130. ISSN 1553-7404. PMC 2944795Freely accessible. PMID 20885792.
  15. ↑ Hakak, Y.; Walker, J. R.; Li, C.; Wong, W. H.; Davis, K. L.; Buxbaum, J. D.; Haroutunian, V.; Fienberg, A. A. (2001-04-10). "Genome-wide expression analysis reveals dysregulation of myelination-related genes in chronic schizophrenia". Proceedings of the National Academy of Sciences of the United States of America. 98 (8): 4746–4751. doi:10.1073/pnas.081071198. ISSN 0027-8424. PMC 31905Freely accessible. PMID 11296301.
  16. ↑ Buxbaum, J. D.; Georgieva, L.; Young, J. J.; Plescia, C.; Kajiwara, Y.; Jiang, Y.; Moskvina, V.; Norton, N.; Peirce, T. (2008-02-01). "Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene". Molecular Psychiatry. 13 (2): 162–172. doi:10.1038/sj.mp.4001991. ISSN 1359-4184. PMID 17579610.
  17. ↑ Takahashi, N.; Sakurai, T.; Bozdagi-Gunal, O.; Dorr, N. P.; Moy, J.; Krug, L.; Gama-Sosa, M.; Elder, G. A.; Koch, R. J. (2011-01-01). "Increased expression of receptor phosphotyrosine phosphatase-β/ζ is associated with molecular, cellular, behavioral and cognitive schizophrenia phenotypes". Translational Psychiatry. 1: e8. doi:10.1038/tp.2011.8. ISSN 2158-3188. PMC 3309478Freely accessible. PMID 22832403.
  18. ↑ Weiss, L. A.; Escayg, A.; Kearney, J. A.; Trudeau, M.; MacDonald, B. T.; Mori, M.; Reichert, J.; Buxbaum, J. D.; Meisler, M. H. (2003-02-01). "Sodium channels SCN1A, SCN2A and SCN3A in familial autism". Molecular Psychiatry. 8 (2): 186–194. doi:10.1038/sj.mp.4001241. ISSN 1359-4184. PMID 12610651.
  19. ↑ Faham, Malek; Zheng, Jianbiao; Moorhead, Martin; Fakhrai-Rad, Hossein; Namsaraev, Eugeni; Wong, Kee; Wang, Zhiyong; Chow, Shu G.; Lee, Liana (2005-10-11). "Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays". Proceedings of the National Academy of Sciences of the United States of America. 102 (41): 14717–14722. doi:10.1073/pnas.0506677102. ISSN 0027-8424. PMC 1253580Freely accessible. PMID 16203980.
  20. ↑ Sakurai, Takeshi; Reichert, Jennifer; Hoffman, Ellen J.; Cai, Guiqing; Jones, Hywel B.; Faham, Malek; Buxbaum, Joseph D. (2008-08-01). "A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders". Autism Research. 1 (4): 251–257. doi:10.1002/aur.30. ISSN 1939-3806. PMC 2678895Freely accessible. PMID 19360675.
  21. ↑ Neale, Benjamin M.; Kou, Yan; Liu, Li; Ma'ayan, Avi; Samocha, Kaitlin E.; Sabo, Aniko; Lin, Chiao-Feng; Stevens, Christine; Wang, Li-San (2012-05-10). "Patterns and rates of exonic de novo mutations in autism spectrum disorders". Nature. 485 (7397): 242–245. doi:10.1038/nature11011. ISSN 1476-4687. PMC 3613847Freely accessible. PMID 22495311.
  22. ↑ Poultney, Christopher S.; Goldberg, Arthur P.; Drapeau, Elodie; Kou, Yan; Harony-Nicolas, Hala; Kajiwara, Yuji; De Rubeis, Silvia; Durand, Simon; Stevens, Christine (2013-10-03). "Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder". American Journal of Human Genetics. 93 (4): 607–619. doi:10.1016/j.ajhg.2013.09.001. ISSN 1537-6605. PMC 3791269Freely accessible. PMID 24094742.
  23. ↑ Gaugler, Trent; Klei, Lambertus; Sanders, Stephan J.; Bodea, Corneliu A.; Goldberg, Arthur P.; Lee, Ann B.; Mahajan, Milind; Manaa, Dina; Pawitan, Yudi (2014-08-01). "Most genetic risk for autism resides with common variation". Nature Genetics. 46 (8): 881–885. doi:10.1038/ng.3039. ISSN 1546-1718. PMC 4137411Freely accessible. PMID 25038753.
  24. ↑ De Rubeis, Silvia; He, Xin; Goldberg, Arthur P.; Poultney, Christopher S.; Samocha, Kaitlin; Cicek, A. Erucment; Kou, Yan; Liu, Li; Fromer, Menachem (2014-11-13). "Synaptic, transcriptional and chromatin genes disrupted in autism". Nature. 515 (7526): 209–215. doi:10.1038/nature13772. ISSN 1476-4687. PMC 4402723Freely accessible. PMID 25363760.
  25. ↑ Sanders, Stephan J.; He, Xin; Willsey, A. Jeremy; Ercan-Sencicek, A. Gulhan; Samocha, Kaitlin E.; Cicek, A. Ercument; Murtha, Michael T.; Bal, Vanessa H.; Bishop, Somer L. (2015-09-23). "Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci". Neuron. 87 (6): 1215–1233. doi:10.1016/j.neuron.2015.09.016. ISSN 1097-4199. PMC 4624267Freely accessible. PMID 26402605.
  26. ↑ Buxbaum, Joseph D.; Daly, Mark J.; Devlin, Bernie; Lehner, Thomas; Roeder, Kathryn; State, Matthew W.; Autism Sequencing Consortium (2012-12-20). "The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders". Neuron. 76 (6): 1052–1056. doi:10.1016/j.neuron.2012.12.008. ISSN 1097-4199. PMC 3863639Freely accessible. PMID 23259942.
  27. ↑ Bozdagi, Ozlem; Sakurai, Takeshi; Papapetrou, Danae; Wang, Xiaobin; Dickstein, Dara L.; Takahashi, Nagahide; Kajiwara, Yuji; Yang, Mu; Katz, Adam M. (2010-01-01). "Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication". Molecular Autism. 1 (1): 15. doi:10.1186/2040-2392-1-15. ISSN 2040-2392. PMC 3019144Freely accessible. PMID 21167025.
  28. ↑ Shu, Weiguo; Cho, Julie Y.; Jiang, Yuhui; Zhang, Minhua; Weisz, Donald; Elder, Gregory A.; Schmeidler, James; De Gasperi, Rita; Sosa, Miguel A. Gama (2005-07-05). "Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene". Proceedings of the National Academy of Sciences of the United States of America. 102 (27): 9643–9648. doi:10.1073/pnas.0503739102. ISSN 0027-8424. PMC 1160518Freely accessible. PMID 15983371.
  29. ↑ Kajiwara, Yuji; Schiff, Tamar; Voloudakis, Georgios; Gama Sosa, Miguel A.; Elder, Gregory; Bozdagi, Ozlem; Buxbaum, Joseph D. (2014-07-01). "A critical role for human caspase-4 in endotoxin sensitivity". Journal of Immunology (Baltimore, Md.: 1950). 193 (1): 335–343. doi:10.4049/jimmunol.1303424. ISSN 1550-6606. PMC 4066208Freely accessible. PMID 24879791.
  30. ↑ Kolevzon, Alexander; Bush, Lauren; Wang, A. Ting; Halpern, Danielle; Frank, Yitzchak; Grodberg, David; Rapaport, Robert; Tavassoli, Teresa; Chaplin, William (2014-01-01). "A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome". Molecular Autism. 5 (1): 54. doi:10.1186/2040-2392-5-54. ISSN 2040-2392. PMC 4326443Freely accessible. PMID 25685306.
  31. ↑ "My Bibliography - My NCBI Collection". www.ncbi.nlm.nih.gov. Retrieved 2016-02-10.
  32. ↑ "Joseph D Buxbaum - Google Scholar Citations". scholar.google.com. Retrieved 2016-02-12.
  33. ↑ "ASN 2014 Awards Reception Journal" (PDF). December 4, 2014. Retrieved February 9, 2016.
  34. ↑ http://nam.edu/nam-elects-80-new-members/
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