Find out about the latest publications and events at Mass General's Collaborative Center for X-linked Dystonia Parkinsonism.
SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene.
Petrozziello T, Dios AM, Mueller KA, Vaine CA, Hendriks WT, Glajch KE, Mills AN, Mangkalaphiban K, Penney EB, Ito N, Fernandez-Cerado C, Legarda GPA, Velasco-Andrada MS, Acuña PJ, Ang MA, Muñoz EL, Diesta CCE, Macalintal-Canlas R, Acuña G, Sharma N, Ozelius LJ, Bragg DC, Sadri-Vakili. G.PLoS One. 2020 Dec 14;15(12):e0243655. doi: 10.1371/journal.pone.0243655. eCollection 2020.
Neuroimaging and neuropathology studies of X-linked dystonia parkinsonism
Christine J Arasaratnam, Malvindar K Singh-Bains, Henry J Waldvogel, Richard L M Faull. Neurobiol Dis 2020 Nov 20;148:105186.
Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex.
Petrozziello T, Mills AN, Vaine CA, Penney EB, Fernandez-Cerado C, Legarda GPA, Velasco-Andrada MS, Acuña PJ, Ang MA, Muñoz EL, Diesta CCE, Macalintal-Canlas R, Acuña-Sunshine G, Ozelius LJ, Sharma N, Bragg DC, Sadri-Vakili G. Neurobiol Dis. 2020 Oct;144:105032. doi: 10.1016/j.nbd.2020.105032.
TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-Linked Dystonia-Parkinsonism.
Al Ali J, Vaine CA, Shah S, Campion L, Hakoum A, Supnet ML, Acuña P, Aldykiewicz G, Multhaupt-Buell T, Ganza NGM, Lagarde JBB, De Guzman JK, Go C, Currall B, Trombetta B, Webb PK, Talkowski M, Arnold SE, Cheah PS, Ito N, Sharma N, Bragg DC, Ozelius L, Breakefield XO. Mov Disord. 2020 Sep 25. doi: 10.1002/mds.28305.
Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia Parkinsonism
Stephen, CD, Go, CL, Acuña, P, Sharma N. Mov Disord Clin Pract 2020 Mar 26;7(4):448-452.
CCXDP Investigator News
CCXDP Investigator Michael Talkowski, PhD Named Director of Center for Genomic Medicine at Mass General
September 1, 2020 – Congratulations to CCXDP investigator Dr. Michael Talkowski, who has been selected to become the next Director of the Center for Genomic Medicine (CGM) at Massachusetts General Hospital. Dr. Talkowski will be the third CGM Director, following two world-class scientists, Dr. Sekar Kathiresan and founding director Dr. James Gusella.
Dr. Talkowski is a CGM faculty member, Associate Professor of Neurology with cross-appointments in Psychiatry and Pathology, and the Desmond and Ann Heathwood MGH Research Scholar. Within the CGM, he is affiliated with the Molecular Neurogenetics and Psychiatric and Neurodevelopmental Genetics Units, as well as the Mass General Analytical and Translational Genetics Unit, and directs the Mass General Genomics and Technology Core. He is also core faculty in the department of Neurology Collaborative Center for X-linked Dystonia Parkinsonism (CCXDP), and an Institute Member of the Broad Institute of MIT and Harvard.
Michael completed his PhD in 2008 in Human Genetics, with a focus in neuropsychiatric genetics, from the University of Pittsburgh Graduate School of Public Health and Department of Psychiatry. His postdoctoral training followed in neurogenetics and genomics here at Mass General, Harvard Medical School, and the Broad Institute under Dr. Gusella. During this time, he developed methods to explore structural rearrangements in the genome and determine their impact in neurodevelopmental disorders and congenital anomalies. He was promoted to Instructor in Neurology in 2011 and appointed to the faculty as Assistant Professor in 2013.
Michael's pioneering research has defined changes in the structural organization of the genome and their implications for human disease. His discoveries have integrated molecular and analytic methods to traverse the continuum from identifying DNA mutations to exploring their biological mechanisms for translational insights. He initially used genome sequencing technologies to reveal the extraordinary complexity underlying chromosomal abnormalities in the human germline, including entirely new classes of complex genomic variation. He won the MGH Martin Prize in Translational Research for these discoveries, and the application of genome sequencing to prenatal diagnostics. His current research program is engaged in multiple consortia to explore the genetic architectures of common complex and rare Mendelian disorders, to create maps of structural variation across populations, to perform scalable functional perturbations of genes associated with disease, and to advance new technologies in prenatal and pediatric diagnostics.