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
Ed.D. (In Progress) Higher Education Administration, Texas Tech University (expected graduation 2022)

Representative publications, projects, and/or deployments

  • Order of Military Medical Merit 2021
  • The Surgeon General's "A" Proficiency Designator 2020
  • 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