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Katie L. Sapp, MS

Assistant Professor of Clinical Medical & Molecular Genetics

(317) 944-4073
IB 137A
Indianapolis, IN


Katie Sapp is a genetic counselor for the Metabolism Clinic at IU Health and Riley Hospital for Children. She was appointed to the faculty of the IU School of Medicine in 2023.

Her clinical and research interests include inborn errors of metabolism, particularly lysosomal storage disorders and rare disease therapeutics. She is the course director for Q624: Clinical Genetics and Management of Metabolic Disease. This course is offered to the genetic counseling graduate students in the fall, every other year.

In addition to her work within the Metabolism Clinic and IUH/IUSM, Katie also serves on the Perinatal Genetics and Genomics Task Force with the Indiana Department of Health, the ACMG Therapeutics Committee, and the Introduction of Newly Approved Therapeutics Working Group through NORD.

Key Publications

Sundstrom R, Wetherill L, Sapp K, McPheron M, Lah M. Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health. J Community Genet. 2023 Dec;14(6):627-638. doi: 10.1007/s12687-023-00667-7. Epub 2023 Oct 6. PMID: 37798460; PMCID: PMC10725410.

Jeffries L, et al. “CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.” Genet Med. 2023 Nov 6:101023. doi: 10.1016/j.gim.2023.101023. Epub ahead of print. PMID: 37947183.

Stephenson SEM, et al. “Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.” Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. PMID: 35395208; PMCID: PMC9069070.

Goodman LD, et al. “TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.” Am J Hum Genet. 2021 Sep 2;108(9):1669-1691. doi: 10.1016/j.ajhg.2021.06.019. Epub 2021 Jul 26. PMID: 34314705; PMCID: PMC8456166.

Muir AM, et al. “Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.” Genet Med. 2021 Jan 20. doi: 10.1038/s41436-020-01076-8. Epub ahead of print. PMID: 33473207.

Castelluccio, Valerie, et al. “An Unusual Cause for Coffin-Lowry Syndrome: Three Brothers with Novel Microduplication in Rps6KA3.”  American Journal of Medical Genetics 2019 Dec;179(12):2357-2364. doi: 10.1002/ajmg.a.61353. Epub 2019 Sep 12.


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