Ameya Shirish Walimbe, MD, PhD, MSE

Dr. Walimbe is a Child Neurologist and Physician-Scientist dedicated to treating children with a wide array of neurological conditions. He specializes in neurogenetics and rare diseases, leading several basic science and clinical studies to uncover the biology underlying mitochondrial disorders and develop new therapies. Driven by a mission to translate laboratory breakthroughs into meaningful clinical outcomes, Dr. Walimbe combines the best evidence-based medicine with tailored, flexible care to improve each child's quality of life. Dr. Walimbe frequently presents at major conferences and has published in top-tier journals such as The Lancet Neurology, eLife, and The American Journal of Medical Genetics Part A.

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For me, medicine and science are two halves of a single promise: to give every child a chance at a brighter, healthier future. As a physician-scientist, I dedicate my efforts to unlocking the fundamental mysteries of pediatric neurological and mitochondrial diseases and to seeking breakthroughs that will improve patient outcomes. In the research laboratory, I use fruit flies and cell models to probe the molecular mechanisms underlying neurometabolic and mitochondrial disorders, hunting for the genetic keys to build entirely new treatments.

But the true heart of my work lies at the bedside. I believe every child has a unique story, and providing exceptional care means understanding the individual, not just the diagnosis. By fusing evidence-based clinical practice with advanced research, I aim to turn scientific discovery into tangible patient outcomes—forging enduring, collaborative partnerships with families along every step of their journey.

Intereses Clinicos

Neurogenetics, neuromuscular, neurometabolic diseases, mitochondrial disorders

Educacion

Organizaciones

Honors and awards

2026

Gateway to Mitochondrial Medicine Award, United Mitochondrial Disease Foundation

2026

Mitochondrial Medicine Travel Award, United Mitochondrial Disease Foundation

2026

NeuralCODR T32 Award, Houston Methodist

2020

Career Kudos Award, Pomerantz Center

* Texas Children’s Hospital physicians’ licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician’s office and were not verified by Texas Children’s Hospital.

Research interests

Neurogenetics, mitochondrial disorders, rare diseases, drosophila genetics, neuroscience

Iness AN*, Walimbe AS*, Strouphauer ER, Hirano M, Iglesias AD, Emmanuele V, Griffin CC, Kaplan SL, Gomes WA, Moeller KK, Kralik SF, Scaglia F. Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report. Am J Med Genet A. 2026 Jul 24. 

Walimbe AS, Muntoni F, and Campbell KP. Clinical Presentations and Pathophysiological Mechanisms of Dystroglycanopathy: Advancing Therapeutic Strategies. Lancet Neurology, 2026 Jul;25(7):689-700.

Walimbe AS, Waskow E, Mackay L, Miller M, Gijavanekar C, Difalco CR, Elsea SH, Scaglia F. Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency. American Journal of Medical Genetics Part A, 2025 Feb 3:e64014.

Barak G, Demmler-Harrison G, Rossetti L, Tubman VN, Walimbe AS, Asaithambi R. Progressive Thrombocytopenia, Splenomegaly, and Abnormal Tone in an Infant With Growth Faltering. Pediatrics, 2024 Jun 12:e2023064048.

Walimbe AS, Machol K, Kralik SF, Mizerik EA, Gofin Y, Bekheirnia MR, Gijavanekar C, Elsea SH, Emrick LT, Scaglia F. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurology, 2024 Mar 4;24(1):87.

Okuma H, Hord JM, Chandel I, Venzke D, Anderson ME, Walimbe AS, Joseph S, Gastel Z, Hara Y, Saito F, Matsumura K, Campbell KP. N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy. Elife, 2023 Feb 1;12: e82811.

Walimbe AS, Okuma H, Joseph S, Yang T, Yonekawa T, Hord JM, Venzke D, Anderson ME, Torelli S, Manzur A, Devereaux M, Cuellar M, Prouty S, Ocampo Landa S, Yu L, Xiao J, Dixon JE, Muntoni F, Campbell KP. POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan. Elife, 2020 Sep 25;9:e61388.

Zhu Q, Venzke D, Walimbe AS, Anderson ME, Fu Q, Kinch LN, Wang W, Chen X, Grishin NV, Huang N, Yu L, Dixon JE, Campbell KP, Xiao J. Structure of protein O-mannose kinase reveals a unique active site architecture. Elife, 2016 Nov 23;5:e22238.