Margarita Saenz MD
[Pronunciation: Signs]
Clinical Biochemical Genetics, Clinical Genetics, Pediatric Medical Genetics
Professor of Pediatrics University of Colorado Anschutz Medical Campus Children’s Hospital Colorado
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13123 E 16th AveAurora, CO 80045
Phone+1 720-777-1234
Fax+1 720-777-7321
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Summary
- Dr. Margarita Saenz, based in Aurora, CO, is a specialist in Medical Genetics with subspecialty in NeuroGenetics and Clinical Biochemical Genetics. She completed her medical education at the University of Colorado School of Medicine in 2005, followed by residencies in Pediatrics and Medical Genetics and Genomics. Dr. Saenz has experience in gene therapy and various genetic conditions like Rett syndrome, chromosome imbalances, developmental epileptic encephalopathies. Her research has been published in several recognized journals, covering medical genetic topics such as Pilarowski-Bjornsson Syndrome and Chromosome 8p Syndromes, with her work being cited multiple times by other publications. She is also the program director for the Pediatric Genetic Precision Medicine Fellowship.
Education & Training
University of ColoradoResidency, Medical Genetics and Genomics, 2007 - 2010
Barrow Neurological Institute at St Joseph's Hospital and Medical CenterResidency, Pediatrics, 2005 - 2007- University of Colorado School of Medicine Anschutz Medical CampusClass of 2005
Certifications & Licensure
CO State Medical License 2010 - 2027
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome Start of enrollment: 2023 Jun 13
- ATTUNE: A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome (MDS) Start of enrollment: 2024 Oct 21
Publications & Presentations
PubMed
- 2 citationsAndrogens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir
Medrxiv. 2025-05-07 - 5 citationsBi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro, Tommaso Pippucci
American Journal of Human Genetics. 2025-04-03 - 2 citationsChromosome 8p Syndromes Clinical Presentation and Management Guidelines.Kourtney Santucci, Kristina E Malik, Katie Angione, Dana Bennink, Andrea Gerk
Clinical Genetics. 2025-02-01
Journal Articles
- Rare SUZ12 variants commonly cause an overgrowth phenotypeCyrus SS, et. al, J Med Genet C Semin Med Genet, 11/17/2019
Press Mentions
New Insights into the Clinical and Molecular Spectrum of the Novel CYFIP2-Related Neurodevelopmental Disorder and Impairment of the WRC-Mediated Actin DynamicsNovember 5th, 2020
Teen with Stiff Skin Syndrome ‘Turning to Stone,’ Mom Pleas for HelpAugust 26th, 2020
Bedridden Teen Suffers from Rare Disease Turning Him into Stone: 'It's Only Getting Worse'August 16th, 2019
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