Luis Alfredo Umana, MD
Pediatric Genetics Specialist
Associate Professor at UT Southwestern Medical Center
- Languages Spoken:
- English Spanish
Biography
Luis Umaña, M.D., is a clinical geneticist at Children's Health℠ who specializes in inborn errors of metabolism (rare genetic conditions that affect how the body turns food into energy). His dedication to patients diagnosed with conditions such as phenylketonuria (PKU), maple syrup urine disease and Sanfilippo syndrome, is unwavering. Through newborn screenings, Dr. Umaña works to ensure these rare conditions are detected through comprehensive testing early in infancy.
Dr. Umaña earned his medical degree at Universidad Colegio Mayor de Nuestra Señora del Rosario. He completed his residency in pediatrics at St. Barnabas Hospital. Dr. Umaña also completed a second residency in clinical genetics and his fellowship in medical biochemical genetics at Baylor College of Medicine.
Dr. Umaña uses his knowledge of genetics to help patients receive a proper diagnosis and receive evidence-based care throughout every stage of their life. He actively participates in research involving the identification and proper treatment of inborn errors of metabolism. He also works as part of the Texas Department of Health's Newborn Screening Program in the Metabolic Consultants Work Group that helps children across the state get properly screened for inborn errors of metabolism.
He has been named to Texas Rising Stars in 2016, 2017 by Texas Monthly Magazine and D Magazine’s list of Best Doctors in 2018.
Dr. Umaña has also written chapters for textbooks used as reference by pediatricians and subspecialists reviewing different metabolic disorders.
He is board certified by the American Board of Pediatrics and the American Board of Medical Genetics and Genomics, and is fluent in both English and Spanish.
Education and Training
- Medical School
- Colegio Mayor/Nuestra Senora del Rosario (2003)
- Residency
- Baylor College of Medicine - Houston GME (2012), Medical Genetics
St. Barnabas Hospital (2010), Pediatrics - Fellowship
- Baylor College of Medicine - Houston GME (2013), Medical Genetics
- Board Certification
- American Board of Medical Genetics and Genomics
Treatments
Departments and Programs
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Research Interests
- Clinical management of inborn errors of metabolism
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Publications
Publications
- MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development., Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig Chinault A, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW Hum. Mol. Genet. 2013 Nov 22 21 4339-48
- Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW Am. J. Med. Genet. A 2017 Jun
- Natural History of Sanfilippo Syndrome Type C in Boyaca, Colombia. Velasco HM, Sanchez Y, Martin AM, Umaña LA J. Child Neurol. 2017 Feb 32 2 177-183
- Genetica clinica comunitaria: Exploracion de patologia genetica en Boyaca, Colombia. Velasco HM, Martin AM, Galvis J, Buelvas L, Sanchez Y, Umaña LA, Acosta J. Revista de Salud Pública 2017 19 (1) 32-38
Books
- Disorders of One Carbon Metabolism. In Scaglia F and Lee BH, eds. Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways. Umaña LA, Craigen WJ. (2014). Oxford University Press.
- Disorders of Lipid and Lipoprotein Metabolism. In Rudolph's Pediatrics, 23rd ed, Kline MW, Blaney SM, Giardino AP, Oange JS, Penny DJ, Schutze GE, Shekerdemian LS, eds. Umaña LA, J. Craigen WJ (2018). New York, NY, McGraw-Hill Education; 736-748
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Professional Activities
- American Board of Medical Genetics
- American Board of Pediatrics
- Society for Inherited Metabolic Disorders (SIMD)
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Awards and Honors
- D Magazine Best Pediatric Specialist (2018-2020)
- Texas Super Doctors - Rising Stars (2016), Texas Monthly Magazine
- Resident Teaching Award (2009), Albert Einstein College of Medicine
Virtual Visit
This provider may offer virtual appointments. Please review our Virtual Visit Specialty Clinics page for instructions on setting up a visit.