Luis Rohena, MD, MS, FAAP, FACMG

Luis O Rohena, MD, MS, FAAP, FACMG, Lieutenant Colonel, Army

Name: Luis O Rohena, MD, MS, FAAP, FACMG, Lieutenant Colonel, Army

USU Department of Primary Appointment: 
Chief, Medical Genetics; Director, Metabolic Clinic; Associate Program Director-Research: Pediatric Residency
Faculty Rank: 
Associate Professor
San Antonio Military Medical Center, TX

Research Interests:
Rare Disorders; Autism; Genetics of Skin Disorders; Epilepsy

Office Phone: 
(210) 916-4256


B.A. Biochemistry (Honors), Columbia University 2004
M.D. Ponce (Honors) 2008
Internship: Pediatrics, Walter Reed Army Medical Center 2009
Residency: Pediatrics (Distinguished Graduate), Walter Reed Army Medical Center 2011
Fellowship: Clinical Genetics, Columbia University 2012
Chief Clinical and Research Genetics Fellow, Columbia University 2013
M.S. Management, Maryland, 2019

Representative publications, projects, and/or deployments

  • Patient Safety Award, Carle Foundation Hospital, Carle Illinois College of Medicine 2019
  • American Academy of Pediatrics Special Achievement Award 2018
  • Outstanding Pediatric Clerkship Educator Award, USUHS 2009 (Walter Reed), 2011 ( Walter Reed), 2014 (SAMMC)
  • Gea Miller Best Teaching Pediatric Faculty Member at SAMMC 2015, 2016, 2017
  • Columbia University 1st place research award 2013; Columbia University Outstanding Genetics Fellow 2012, 2013
  • Robert Wood Johnson Medical Scholar
  • Chief Editor, Medscape, Genetics and Metabolic Diseases
  • Adjunct Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio
  • PROFIS Physician- 1-2 Stryker Brigade Combat Team (Arrowhead); 7th Infantry Division 2013-2014; PROFIS Physician- 3-2 Stryker Brigade Combat Team (Ghost); 7th Infantry Division 2014-2018
  • PROFIS Physician: Chemical, Biological, Radiation, Nuclear and Explosive Materials (CBRNE) Physician Expert 581st Medical Company (AS) 1st Medical Brigade 2018-2019


  • Douglas, C., Smith, S., Rohena, L. Novel Case of Paternal Paracentric Inversion causing Partial Trisomy 13 and Review of the Literature, American Journal of Medical Genetics, 2017; PMID: 28394407
  • Palmer, E., Haan, E. Chung W., Rohena, L, Bernardo, E., Hamlin, D., Faux, B., Kalscheuer, V., De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females, Molecular Psychiatry 2016; PMID:27550844
  • Jung-Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, …David L. Stachura, Luis Rohena, Lisenka E.L.M. Vissers, Eun-Young Erin Ahn. De novo mutations in SON disrupt RNA-splicing of genes essential for brain development and metabolism, causing an intellectual disability syndrome, American Journal of Human Genetics 2016; PMID: 27545680
  • Kelle, AM, Bentley, SJ, Rohena, LO, Cabalka AK, Olson, TM. Ebstein Anomaly, Left Ventricular Non-Compaction, and Early-Onset Heart Failure Associated with a De Novo α-Tropomyosin Gene Mutation, American Journal of Medical Genetics, 2016; PMID: 27177193
  • Rohena, L., Lawson, M., Guzman, E., Haverfield, E., Anyane-Yeboa, K Novel FTO Mutation Responsible for Malformation Syndrome in Two Siblings American Journal of Medical Genetics 2015 PMID: 26697951
  • Shang, L., Cho, M., Retteter, K., Folk, L., Humberson, J., Rohena, L., Sidhu, A., Saliganan, S., Iglesias, A., Vitazka, P., Juusola, J., Chung, WK. Mutations in ARID2 Are Associated with Intellectual Disabilities Neurogenetics 2015; DOI:10.1007/s10048-015-0454-0 PMID: 26238514
  • Tuzovic L, Tang S, Miller R, Rohena L,…,Chung WK, Anyane-Yeboa K New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding gamma-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome (Berdon Syndrome) Fetal Diagnosis and Therapy,2015 PMID: 25998219
  • Antonov N, Kingsberry M, Rohena L, Morel K, Lauren C, Garzon M (2014) Early-Onset Heart Failure, Alopecia, and Cutaneous Abnormalities Associated With a Novel Compound Heterozygous Mutation in Desmoplakin. Pediatric Dermatology DOI: 10.1111/pde.12484 PMID: 25516398
  • DeStefano GM, Kurban M, Anyane-Yeboa K, Dall’Armi C, Di Paolo G, Rohena, L. et al. (2014) Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth. PLoS Genet 10(5): e1004333. doi:10.1371/journal.pgen.1004333 PMID: 24831815
  • Rohena L, Neidich J, Truitt Cho M, Gonzalez KD, Tang S, Devinsky O, Chung WK. Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability. Rare Diseases 2013; 1:e26314; PMID: 25003006