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College of Behavioral, Social and Health Sciences

Faculty and Staff Profile

Sara M. Sarasua, PhD, MSPH

Assistant Professor and HCG Program Coordinator
Healthcare Genetics and Genomics

Office: 436 Edwards Hall

Phone: (864) 656-0625


Educational Background

PhD Genetics
Clemson University 2012

MSPH Epidemiology
University of North Carolina, Chapel Hill 1990

BA Biochemistry
University of California, Berkeley 1987

Courses Taught

HCG 9010 Advances in Human Genetics
HCG 9070 Applied Healthcare Genetics


Sara Sarasua is a genetic epidemiologist and an assistant professor in the School of Nursing’s Healthcare Genetics Interdisciplinary Doctoral Program. She received her master’s degree in Epidemiology from the University of North Carolina at Chapel Hill and her Ph.D. in Genetics at Clemson University. Her research interests include understanding the genetic contributions to rare developmental disorders (Phelan-McDermid syndrome), autism, seizures, speech delay; the etiology and epidemiology of adhesive capsulitis (frozen shoulder syndrome); and the relationship between genes and the environment in human health. She collaborates with investigators at Prisma and the Greenwood Genetic Center. She welcomes opportunities to collaborate across disciplines.

Research Interests

Genetic Epidemiology & Statistical Genetics
Etiology of adhesive capsulitis
Phelan-McDermid syndrome (22q13 deletion syndrome)
Copy number variant associated disorders
Genomic analysis of speech and language delay, seizures, birth defects, developmental delay

Research Publications

1. McCoy MD, Sarasua SM, DeLuca JM, Davis S, Rogers RC, Phelan K, Boccuto L. Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants. Pediatri Nephrol 2023 Sep 21. Doi: 10.1007/s00r67-023-06146-y. Online ahead of print
2. Moffitt BA, Oberman LM, Beamer L, Srikanth S, Jain L, Cascio L, Jones K, Pauly R, May M, Skinner C, Buchanan C, DuPont BR, Kaufmann WE, Valentine K, Ward LD, Ivankovic D, Rogers RC, Phelan K, Sarasua SM, Boccuto L. Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals. Clin Genet 2023 May 18. Doi: 10.1111/cge.14361. Online ahead of print.
3. Sarasua SM, DeLuca JM, Rogers C, Phelan K, Rennert L, Powder K, Weisensee K, Boccuto L. Head size in Phelan-McDermis syndrome: A literature review and pooled analysis of 1980 patients identifies candidate genes on 22q13. Genes (Basel). 2023 Feb 21;14(3):54.doi: 10.3390/genes14030540.
4. Blommel JH, Jenkinson G, Binnicker MJ, Karon BS, Boccuto L, Ivankovic DS, Sarasua SM, Kipp BR. Authorized SARS-CoV-2 molecular methods show wide variability in the limit of detection. Diagn Microbiol Infect Dis 2023 Mar; 105(3):115880. Doi: 10.1016/j.diagnmicribio.2022.115880
5. Moffitt BA, Sarasua SM, Ivankovic D, Ward LD, Valentine K, Bennett WE Jr, Rogers C, Phelan K, Boccuto L. Stratification of a Phelan-McDermid syndrome population based on their response to human growth hormone and insulin-like growth factor. Genes. 2023 Feb 15;14(2):490. Doi 10.3390/genes14020490.
6. Schaare D, Sarasua SM, Lusk L, Parthasarathy S, Wang L, Helbig I, Boccuto L. Concomitant calcium channelopathies involving CACNA1A and CACNA1F: A case report and review of the literature. Genes. 2023 Feb 3;14(2):400. Doi: 10.3390/genes14020400.
7. Moffitt BA, Sarasua SM, Ward L, Ivankovic D, Valentine K, Rogers C, Phelan K, Boccuto L. Sleep and Phelan-McDermid syndrome: Lessons from the International Registry and the scientific literature. Mol Genet Genomic Med. 2022 Aug 23:e2035. Doi:10.1002/mgg3.2035.
8. Chen S, Sarasua SM, Davis NJ, DeLuca JM, Boccuto L, Thielke SM, Yu CE. TOMM40 genetic variants associated with healthy aging and longevity: a systematic review. BMC Geriatr 2022 Aug 13;22(1):667. Doi:10.118/s1287-022-03337-4.
9. Floyd SB, Sarasua SM, Pill S, Shanley E, Brooks J. Factors related to initial treatment for adhesive capsulitis in the Medicare population. BMC Geriatrics 2022 Jun 30;22(1);548. Doi:10.1186/s1287-022-03230-0.
10. McCoy MD, Sarasua SM, DeLuca JM, Davis S, Phelan K, Rogers RC, Boccuto L. Genes (Basel). 2022 Jun 10;13(6):1042. Doi 10.3390/genes13061042.
11. Cooley Coleman JA, Sarasua SM, Moore HW, Boccuto L, Cowan CW, Skinner SA, DeLuca JM. Clinical findings from the landmark MEF2C-related disorders natural history study. Mol Genet Genomic Med. 2022 Jun;10():e1919. Doi 10.1002/mgg3.1919.Epub 2022 Apr 13.
12. Beretich LA, Sarasua SM, DeLuca JM. Genetics providers’ experiences using telehealth: A grounded theory approach. J Genet Couns. 2022 May 5. Doi:10.1002/jgc4.1586 Online ahead of print.
13. Boccuto L, Miz A, Abenavoli L, Sarasua SM, Bennett W, Rogers C, DuPont B, Phelan K. Phenotypic variability in Phelan-McDermid syndrome and its putative link to environmental factors. Genes (Basel). 2022 Mar 17;13(3):528. Doi 10.3390/genes13030528.
14. Jain L, Oberman LM, Beamer L, Cascio L, May M, Srikanth S, Skinner C, Jones K, Allen B, Rogers C, Phelan K, Kaufmann EW, DuPont B, Sarasua SM, Boccuto L. Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures. Clin Genet 2022 Jan; 101(1):87-100. Doi 10.1111/cge.14074. PMID 34664257.
15. Sarasua SM, Floyd S, Bridges WC, Pill SG. The epidemiology and etiology of adhesive capsulitis in the U.S. Medicare population. BMC Musculoskelet Disord 2021 Sep 27;22(1):828. Doi 10.1186/s12891-021-04704-9. PMID 34579697.
16. Herth K, Sarasua SM. Development and psychometric testing of a children’s version of the Herth Hope Index. Journal of Nursing Measurement 2021; 30(3) September 13:JNM-D-21-00006. Doi:10.1891/JNM-D-21-00006. Online ahead of print. PMID:34518393.
17. Dyar B, Meaddough E, Sarasua SM, Rogers C, Phelan K, Boccuto L. Genetic findings as the potential basis of personalized pharmacotherapy in Phalen-McDermid syndrome. Genes 2021 Jul 30;12(8):1192. Doi: 10.3390/genes12081192. PMID 34440366.
18. Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L. Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome. PLoS One 2021 Jul 6;16(7):e0253859. Doi:10.1371/journal.pone.0253859. eCollection 2021. PMID:34228749.
19. Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review. Am J Med Genet A. 2021 Dec; 185(12):3884-3894. Doi:10.1002/ajmg.a.62412. PMID 34184825.
20. Meaddough E, Abenavoli L, Sarasua S, Boccuto L. Genetic and environmental factors influencing the interaction between the gut microbiota and the human host: implications for gastrointestinal disorders and treatment approaches. Minerva Gastroenterol (Torino). 2021 Dec;67(4):369-376. Doi:10.23736/S2724-5985.21.02927-2. PMID:34057334.
21. Meaddough E, Sarasua SM, Fasolino TK, Farrell CL. The impact of pharmacogenetic testing in patients exposed to polypharmacy: a scoping review. Pharmacogenomics J. 2021 Aug; 21(4):409-22. Doi:10.108/s4139-021-00224-w. PMID 34140647..
22. Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Tremors: A concept analysis. Nursing Open 2021 Sep; 8(5):219-2428. Doi 10.1002/nop2.840. PMID: 33797860
23. Schenkel LC, Arek-Eshghi E, Rooney K, Kerkhof J, Levy MA, McConkey H, Rogers RC, Phelan K, Sarasua SM, Jain L, Pauly R, Boccuto L, DuPont B, Cappuccio G, Brunetti-Pierri N, Schwartz CE, Sadikovic B. DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome. Clin Epigenetics. 2021 Jan 6; 13(1):2. doi: 10.1186/s13148-020-00990-7. PMID: 33407854
24. Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L. Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature. Eur J Med Genet 2020 Aug 19;63(11):104042.
25. Cathey SS, Sarasua SM, Simensen R, Pietris K, Kimbrell G, Sillence D, Wilson C, Horowitz L. Intellectual functioning in alpha-Mannosidosis. JIMD Rep. 2019 21;50(1):44-49. doi: 10.1002/jmd2.12073
26. Ziats CA, Grosvenor LP, Sarasua SM, Thurm AE, Swedo SE, Mahfouz A, Rennert OM, Ziats MN. Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment. PLOS ONE 2019 March 15: 1-12.
27. DeLuca JM, Sarasua SM, Boccuto L. Looking toward the Future: An Inquiry into the acceptance of a hypothetical laboratory-based screening test for Autism Spectrum Disorder. Int J Pedatr Res 2019 5(1):1-7.
28. Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A. Identification of 22q13 genes most likely to contribute to Phelan-McDermid syndrome. Eur J Hum Genet 2018 Mar; 26(3): 293-302.
29. Sarasua SM, Li J, Hernandez GT, Ferdinand KC, Tobin JN, Fiscella KA, Jones DW, Sinopoli A, Egan BM. Opportunities for improving cardiovascular health outcomes in adults younger than 65 years with guideline-recommended statin therapy. J clin Hypertens. 2017 Sept; 19(9):850-860.
30. Egan BM, Li J, Sarasua S, et al. Cholesterol control among uninsured adults did not improve from 2001-2004 to 2009-2012 as disparities with both publicly and prively insured adults doubled. J Am Heart Assoc 2017 Nov 2; 6(11).
31. Saleh LM, Wang W, Herman SE, Saba NS, Anastas V, Barber E, Corrigan-Cummins M, Farooqui M, Sun C, Sarasua SM, Zhao Z, Abousamra NK, Elbaz O, Abdelghaffar HA, Wiestner A, Calvo KR. Ibrutinib downregulates a subset of miRNA leading to upregulation of tumor suppressors and inhibition of cell proliferation in chronic lymphocytic leukemia. Leukemia. 2016 Jul 19. doi: 10.1038/leu.2016.181. [Epub ahead of print] PubMed PMID: 27431016
32. Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE. Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. Orphanet Journal of Rare Diseases. 2015 Aug 27;10(1):105.
33. Bupp CF, Sarasua SM, Dean J, Stevenson RE. When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina. American Journal of Medical Genetics 2015 Oct; 167(7):1679-80.
34. Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE. Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome. American Journal of Medical Genetics 2015 Jul 167(7):1679-80.
35. Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen C-F, Rollins JD, Rogers RC, Phelan K, DuPont BR. Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. Human Genetics 2014 Jul 133(7):847-859.
36. Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K, DuPont BR. 22q13.2q13.32 Genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome. Genetics in Medicine 2014 Apr 16(4):318-328.
37. Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, DuPont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE. Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. European Journal of Human Genetics. 2012 Aug 15.
38. Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS.Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).Journal of Medical Genetics 2011 Nov;48(11):761-6.
39. Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS. Growth in Phelan-McDermid syndrome. American Journal of Medical Genetics Part A. 2011 Sep;155A(9):2324-6.


Link to my publications

Link to my CU School of Health Research profile

College of Behavioral, Social and Health Sciences
College of Behavioral, Social and Health Sciences | 116 Edwards Hall