Luis O Rohena


Lieutenant Colonel, Army

Department of Primary Appointment:
School of Medicine
Deputy Chair, Department of Pediatrics; Professor of Pediatrics; Chief, Medical Genetics; Director, Metabolic Clinic
Location: San Antonio Military Medical Center, TX
Research Interests:
Rare Disorders; Autism; Genetics of Skin Disorders; Epilepsy; Higher Education
Office Phone


B.A. Biochemistry (Honors), Columbia University 2004
M.D. Ponce Health Sciences University (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, University of Maryland, 2019
Ph.D. Higher Education Research and Administration, Texas Tech University 2022

Career Highlights: Positions, Projects, Deployements, Awards and Additional Publications

The Surgeon General's Physician Recognition Award 2023

American Academy of Pediatrics Special Achievement Award 2018, 2022

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

Outstanding Pediatric Clerkship Educator Award, USUHS 2009 (Walter Reed), 2011 (Walter Reed), 2014 (SAMMC); Columbia University 1st place research award 2013; Columbia University Outstanding Genetics Fellow 2012, 2013; Gea Miller Best Teaching Pediatric Faculty Member at SAMMC 2015, 2016, 2017

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; Adjunct Assistant Professor of Medical Education, Texas A&M College of Medicine

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; Deployments: Operation Enduring Freedom-Spartan Shield and Operation Allies Refuge

Representative Bibliography

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