Dr. Acuña presenting a poster
Patrick Acuña presenting at the American Academy of Neurology annual meeting

Patrick Acuña earned his bachelor’s degree in Biology and Anthropology from Emory University and his medical degree from the University of Texas. He was awarded a master’s degree in Public Health at the Harvard T.H. Chan School of Public Health. His interests include clinical research and quality improvement programs.

Dr. Acuña serves Vice President of the Sunshine Care Foundation in Manila. He is also a critical member of the XDP clinical research team at MGH. Dr. Acuña frequently travels between Boston and Panay serving as an important liaison between teams at MGH and SCF on Panay.  Dr. Acuña participates in longitudinal clinical research projects with the goal of improving XDP patient outcomes, identifying biomarkers, and preparing for eventual clinical trials.

Selected Publications

Campion LN, Meijia Maza A, Yadav R, Penney EB, Murcar MG, Correia K, Gillis T, Fernandez-Cerado C, Velasco-Andrada MS, Legarda GP, Ganza-Bautista NG, Lagarde JBB, Acuña PJ, Multhaupt-Buell T, Aldykiewicz G, Supnet ML, De Guzman JK, Go C, Sharma N, Munoz EL, Ang MC, Diesta CCE, Bragg DC, Ozelius LJ, Wheeler VC. Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat. Acta Neuropathol Commun. 2022 Apr 8;10(1):49. doi: 10.1186/s40478-022-01349-0.

Laabs BH, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuña P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobričić V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. Nat Commun. 2021 May 28;12(1):3216. doi: 10.1038/s41467-021-23491-4.
Fernandez-Cerado C, Legarda GP, Velasco-Andrada MS, Aguil A, Ganza-Bautista NG, Lagarde JBB, Soria J, Jamora RDG, Acuña PJ, Vanderburg C, Sapp E, DiFiglia M, Murcar MG, Campion L, Ozelius LJ, Alessi AK, Singh-Bains MK, Waldvogel HJ, Faull RLM, Macalintal-Canlas R, Muñoz EL, Penney EB, Ang MA, Diesta CCE, Bragg DC, Acuña-Sunshine G. Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism. J Neural Transm (Vienna). 2021 Apr;128(4):575-587. doi: 10.1007/s00702-020-02286-9.

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. SVA insertion in X-linked Dystonia-Parkinsonism alters histone H3 acetylation associated with TAF1 gene. PLoS One. 2020 Dec 14;15(12):e0243655. doi: 10.1371/journal.pone.0243655.

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. Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia-Parkinsonism post-mortem prefrontal cortex. Neurobiol Dis. 2020 Oct;144:105032. doi: 10.1016/j.nbd.2020.105032.

Stephen, MB et al. Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X‐Linked Dystonia-Parkinsonism. Mov Disord Clin Pract. MDS Clinical Practice 2020 May 04;7(4):448-452.

Song PC, et al. Voice and swallowing dysfunction in X-linked dystonia-parkinsonism. Laryngoscope 2019

Aneichyk T, et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 2018; 172: 897-909 e821