Available to mentor
In my clinical practice, I specialize in biochemical genetics, concentrating on patients diagnosed with treatable conditions and disorders identified through newborn screening. This includes managing lysosomal storage diseases, organic acidemias, and urea cycle disorders. Additionally, I actively participate in multidisciplinary clinics focused on neuromuscular genetics and RASopathies. I am also involved in exploring the use of innovative treatments such as vosoritide for achondroplasia and trofinetide for Rett syndrome. In a multidisciplinary clinic setting, I collaborate with colleagues to utilize medications like trametinib and everolimus for the comprehensive management of RASopathies.
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MD, PhDUniversity of Virginia, Charlottesville, 2015
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B.S.University of Minnesota, Minneapolis, 2007
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Center MemberPrecision Health Initiative
My research interests cover a wide range of topics within medical science. I am particularly focused on the management and long-term follow-up of lysosomal storage disorders detected through newborn screening (NBS), renal replacement therapy for hyperammonemia, and the clinical presentation of TANGO2-related metabolic encephalopathy and arrhythmias. I am also keenly interested in the implementation of innovative therapeutic approaches. Specifically, I am dedicated to developing and applying novel therapies, including advanced gene therapy techniques, to address the complex challenges presented by these disorders. My goal is to advance the field of medical science towards more effective treatments and improved patient outcomes.
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Ames EG, Anand PM, Bekheirnia MR, Doshi MD, El Ters M, Freese ME, Gbadegesin RA, Guay-Woodford LM, Java A, Ranch D, Rodig NM, Wang X, Thomas CP. Am J Transplant, 2024 Oct 31;Journal ArticleEvaluation for genetic disease in kidney transplant candidates: A practice resource.
DOI:10.1016/j.ajt.2024.10.019 PMID: 39488252 -
Owlett LD, Zapanta B, Sandkuhler SE, Ames EG, Hickey SE, Mackenzie SJ, Meisner JK. Am J Med Genet A, 2024 Oct; 194 (10): e63778Journal ArticleMulticenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.
DOI:10.1002/ajmg.a.63778 PMID: 38829177 -
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park S-M, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Am J Hum Genet, 2024 Aug 8; 111 (8): 1605 - 1625.Journal ArticleComprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
DOI:10.1016/j.ajhg.2024.06.008 PMID: 39013458 -
Ames E. 2024 Jul 27;PresentationAthletic Participation - Breaking Down Barriers to Being Active
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Ames E. 2024 May 4;PresentationBeyond Kidneys: Harnessing Genetics for Comprehensive Cystinosis Care
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Ames E. 2023 May 9;PresentationUpdate on Spinal Muscular Atrophy
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Connolly CD, Quinonez SC, Ames EG. Genet Med, 2023 Feb; 25 (2): 100339Journal ArticleRare disease therapeutics: The future of medical genetics in a changing landscape.
DOI:10.1016/j.gim.2022.11.007 PMID: 36476402 -
Bupp CP, Ames EG, Arenchild MK, Caylor S, Dimmock DP, Fakhoury JD, Karna P, Lehman A, Meghea CI, Misra V, Nolan DA, O'Shea J, Sharangpani A, Franck LS, Scheurer-Monaghan A. Children (Basel), 2023 Jan 4; 10 (1):Journal ArticleBreaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.
DOI:10.3390/children10010106 PMID: 36670656
