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School of Nursing

Ph.D. Healthcare Genetics and Genomics

Welcome to the home of the interdisciplinary, online Ph.D. program in in Healthcare Genetics and Genomics. The program brings together experts in many fields to prepare future leaders in translational bench science, clinical practice, health policy, and ethics in the field of healthcare genetics and genomics.

The impact of genetics and genomics on healthcare may exceed that of any earlier scientific advancement. Genetics and genomics underlie precision healthcare and promise innovations in disease prevention, early detection, diagnostics, and treatment that require different ways of providing health care and conducting research. To help meet this challenge, Clemson University offers an interdisciplinary Doctor of Philosophy in Healthcare Genetics and Genomics.

  • Program Information

    Our program offers graduate students the opportunity to be mentored by faculty from multiple disciplines. Core courses focus on genetics and genomics (human, molecular and healthcare), knowledge and theory, research, and ethics and policy. Students will take cognate courses in bioinformatics, statistics, education, public health sciences and other areas to develop the tools necessary to develop a program of research. Core courses are offered in a live synchronous online format and students may choose to locate in the Clemson area or remain at distance. A robust research laboratory is available for Clemson-based students. Students will be matched with faculty to conduct dissertation research.

    With its highly collaborative research and translational focus, this program prepares scientists across disciplines to:

    • Plan and conduct research focusing on genomic aspects of health.
    • Develop and integrate new knowledge to inform precision healthcare and health professional education.
    • Demonstrate leadership skills in interdisciplinary research, ethical conduct, and the development and implementation of policy in healthcare genetics and genomics
  • Who should apply?
    • Individuals with an interest in healthcare genetics-genomics. This includes nurses and others in health-related fields (physician assistants, genetic counselors), people from laboratory and pharmaceutical science, and others.
    • Preference is given to people who have a master’s degree in a related field.
  • Applying

    For a Fall (August) start, applications are accepted through the Graduate School at Clemson University through January 15th.  Applications open in August (for the following year) and can be found here. For more information about the Graduate School at Clemson University simply visit their website here. Accepted students will attend a 2-day orientation during the Spring semester.

  • Application Criteria
    • At least a bachelor’s degree in a related health science discipline from an accredited institution.
    • A cumulative GPA of 3.0 or higher (all college credits)
    • Official transcripts from all previous college credits
    • Three letters of recommendation
    • Professional resume or curriculum vita (CV)
    • Personal statement and career goals
    • Writing sample (or master’s thesis or publication)
    • Interview with faculty (virtual)
    • TOEFL score may be required by applicants for whom English is not their first language.   

    As of January 1, 2017, applicants who graduated from program(s) that award Pass/Fail grades for all courses will not be considered competitive applicants.

  • Our Faculty

    The School of Nursing Research Faculty have diverse and exciting programs of research and expertise crossing many content areas and study methodologies. Five faculty have primary appointments in the Healthcare Genetics and Genomics program (see *) and all faculty are involved with doctoral students as either committee chairs or committee members. Please click on the faculty names to learn more about each faculty member.

    Learn more about the research interests of the Clemson University School of Nursing Faculty

  • Facilities

    Students in the Healthcare Genetics and Genomics program have access to excellent research facilities. Opportunities are available for both distance and in-person work.

    Healthcare Genetics and Genomics Laboratory
    The School of Nursing Healthcare Genetics and Genomics Laboratory offers a state-of-the-art laboratory for students wanting to conduct laboratory-based research. Active research projects involve rare disease and cancer therapeutics. Undergraduate students may support doctoral students in research projects.

    Center for Research on Health Disparities
    The Center for Research on Health Disparities advocates for the development, advancement, and dissemination of research on population health and health disparities. The center links faculty, students, and community members to advance research on the complex causes of health disparities and strategies to eliminate these disparities.

    Clemson University Center for Human Genetics 
    The Clemson University Center for Human Genetics is housed in Self Regional Hall, a state-of-the-art research and educational facility located in Greenwood, South Carolina. Research in the center focuses on genomic, computational, and comparative genetic approaches to gain insights in genetic and environmental risk factors for human diseases.

    Palmetto, Clemson University's primary high-performance computing
    The Palmetto, Clemson University's primary high-performance computing (HPC), is a resource available to Healthcare Genetics and Genomics students and faculty. Every semester training opportunities are provided for students interested in developing data analytics expertise with workshops on Linux, R programming, Python, Machine Learning (R and Python), Big Data Analytics, and more.

    Clemson Rural Health
    Clemson Rural Health is the organizing framework for Clemson's health service delivery and prevention efforts statewide - with locations including the Joseph F. Sullivan Center, Clemson Health Clinic at Walhalla, and a fleet of Clemson Rural Health mobile health units.  These clinical sites may support activities for students interested in clinical research.

    Rutland Institute for Ethics
    The Rutland Institute for Ethics provides the campus and community with a forum for exploration and discussion of ethical issues.

    Clemson University Division of Research Core Facilities
    Clemson University Division of Research Core Facilities includes state-of-the-art equipment, competitive rates, and support from highly trained staff and directors. These facilities include the Electron Microscopy Facility, the Clemson Light Imaging Facility, and the Office of Animal Resources.

    Clemson University Genomics and Bioinformatics Facility
    The Clemson University Genomics and Bioinformatics Facility (CUBF) helps investigators use the latest genomics technologies in their research. In particular, bioinformatics courses and training opportunities are available.

    GRAD 360
    The GRAD 360 Comprehensive Professional Development for Graduate Students and Postdocs is a hub of professional development. Graduate students are well supported with in person and distance programs on leadership, teaching, communication, research and innovation, personal health and wellness, career development and more.

    Other Clemson University Departments
    Students may find dissertation committee members from other departments such as Physics, Bioengineering, Statistics, Biological Sciences, Genetics and Biochemistry, Education, Psychology.

  • Reciprocity

    South Carolina is a member of the State Authorization Reciprocity Agreement (SARA) and Clemson University (CU) is an approved SARA institution. This means we adhere to established standards for offering post-secondary e-learning programs. State authorization allows CU to offer online programs to students outside of SC  or enroll students in learning placements/courses that take place outside of SC. CU must meet the regulatory requirements of the state where the student physically resides or where activity will take place. Before enrolling in an academic program or course, you should understand the regulations of your state in relation to a reciprocity agreement with Clemson University/South Carolina, Please review the state authorizations page for your state’s information.  If you have trouble finding the requirements for a specific state, please email stateauth@clemson.edu for help.

    Physical presence in a location where we do not meet state regulatory requirements can negatively impact our ability to offer you federal financial aid, military tuition assistance, or your continuation within the program. These restrictions extend to courses taken online over the summer, or other forms of learning or placements if they are conducted outside of an approved state. Students are responsible for providing accurate and updated information about their physical presence to the institution if needed. Early notification of changes allows the institution to minimize, but may not prevent, the possibility of program delays/offerings. If you are expecting a change in your physical location, contact the State Authorization office when you know the anticipated location(s).

  • Publications from HCG Students and Faculty

    2022

    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.

    Paparella R, Caroleo AM, Agolini E, Chillemi G, Miele E, Pedace L, Rinelli M, Pizzi S, Boccuto L, Colafati GS, Lodi M, Cacchione A, Carai A, Digilio MC, Tomà P, Tartaglia M, Mastronuzzi A. Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant. Am J Med Genet A. 2022 Sep;188(9):2796-2802.

    Abenavoli L, Boccuto L. The Legacy of Renato Dulbecco in the Post-Genomic Era. Medicina (Kaunas). 2022 Jul 22;58(8):974.

    McCoy MD, Sarasua SM, DeLuca JM, Davis S, Phelan K, Rogers RC, Boccuto L. State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes. Genes (Basel). 2022 Jun 10;13(6):1042.

    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(6):e1919. doi: 10.1002/mgg3.19

    Boccuto L, Mitz 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.

    Phelan K, Boccuto L, Powell CM, Boeckers TM, van Ravenswaaij-Arts C, Rogers RC, Sala C, Verpelli C, Thurm A, Bennett WE Jr, Winrow CJ, Garrison SR, Toro R, Bourgeron T. Phelan-McDermid syndrome: a classification system after 30 years of experience. Orphanet J Rare Dis. 2022 Jan 29;17(1):27.

    Jain L, Oberman LM, Beamer L, Cascio L, May M, Srikanth S, Skinner C, Jones K, Allen B, Rogers C, Phelan K, Kaufmann WE, 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.

    Tkach S, Dorofeyev A, Kuzenko I, Boyko N, Falalyeyeva T, Boccuto L, Scarpellini E, Kobyliak N, Abenavoli L. Current Status and Future Therapeutic Options for Fecal Microbiota Transplantation. Medicina (Kaunas). 2022 Jan 6;58(1):84.

    2021

    Srikanth S, Cascio L, Pauly R, Jones K, Sorrow S, Cubillan R, Chen CF, Skinner CD, Champaigne K, Stevenson RE, Schwartz CE, Boccuto L. A new test for autism spectrum disorder: Metabolic data from different cell types. Data Brief. 2021 Nov 23;39:107598.

    Snyder EF, Davis S, Aldrich K, Veerabagu M, Larussa T, Abenavoli L, Boccuto L. Crohn disease: Identification, diagnosis, and clinical management. Nurse Pract. 2021 Dec 1;46(12):22-30.

    Abenavoli L, Procopio AC, Scarpellini E, Polimeni N, Aquila I, Larussa T, Boccuto L, Luzza F. Gut microbiota and non-alcoholic fatty liver disease. Minerva Gastroenterol (Torino). 2021 Dec;67(4):339-347.

    Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Tremors: A concept analysis. Nurs Open. 2021 Sep;8(5):2419-2428.

    Abenavoli L, Cinaglia P, Lombardo G, Boffoli E, Scida M, Procopio AC, Larussa T, Boccuto L, Zanza C, Longhitano Y, Fagoonee S, Luzza F. Anxiety and Gastrointestinal Symptoms Related to COVID-19 during Italian Lockdown. J Clin Med. 2021 Mar 16;10(6):1221.

    Abenavoli L, Cinaglia P, Procopio AC, Serra R, Aquila I, Zanza C, Longhitano Y, Artico M, Larussa T, Boccuto L, Ricci P, Luzza F. SARS-CoV-2 Spread Dynamics in Italy: The Calabria Experience. Rev Recent Clin Trials. 2021;16(3):309-315.

    Boccuto L, Neri G. Overgrowth in myth and art. Am J Med Genet C Semin Med Genet. 2021 Jun;187(2):176-181.

    Agolini E, Botta E, Lodi M, Digilio MC, Rinelli M, Bellacchio E, Alesi V, Nardo T, Zambruno G, Orioli D, Alessi I, Boccuto L, Rossi S, Carai A, Colafati GS, Cacchione A, Dallapiccola B, Novelli A, Mastronuzzi A. Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene. Clin Genet. 2021 Jun;99(6):842-848.

    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.

    Ranalli M, Boni A, Caroleo AM, Del Baldo G, Rinelli M, Agolini E, Rossi S, Miele E, Colafati GS, Boccuto L, Alessi I, De Ioris MA, Cacchione A, Capolino R, Carai A, Vennarini S, Mastronuzzi A. Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review. Diagnostics (Basel). 2021 Apr 2;11(4):647.

    Hinen HB, Boccuto L, Trenor CC 3rd, Wine Lee L. Corrigendum: Childhood Vascular Tumors. Front Pediatr. 2021 Feb 24;9:649610. doi: 10.3389/fped.2021.649610. Erratum for: Front Pediatr. 2020 Oct 22;8:573023.

    Dyar B, Meaddough E, Sarasua SM, Rogers C, Phelan K, Boccuto L. Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome. Genes (Basel). 2021 Jul 30;12(8):1192. doi: 10.3390/genes12081192. PMID: 34440366 Free PMC article. Review.

    Zarate YA, Örsell JL, Bosanko K, Srikanth S, Cascio L, Pauly R, Boccuto L. Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations. Metab Brain Dis. 2021 Jun;36(5):1049-1056.

    Fredrikson KM, Fasolino T. Pharmacogenetic testing: Clinical integration and application for chronic pain management. Nurse Pract. 2021 Apr 1;46(4):12-19. doi: 10.1097/01.NPR.0000737180.73290.1f. PMID: 33739321

    Mastronuzzi A, Boccuto L, Masetti R. Editorial: Recent Advances in Pediatric Cancer Predisposition Syndromes. Front Pediatr. 2021 Mar 8;9:661894.

    Abenavoli L, Larussa T, Corea A, Procopio AC, Boccuto L, Dallio M, Federico A, Luzza F. Dietary Polyphenols and Non-Alcoholic Fatty Liver Disease. Nutrients. 2021 Feb 3;13(2):494.

    Abenavoli L, Boccuto L, Scarpellini E. Are probiotics effective in reversing non-alcoholic steatohepatitis? Hepatobiliary Surg Nutr. 2021 Jun;10(3):407-409.

    Larussa T, Abenavoli L, Corea A, Procopio AC, Giubilei L, Vallelunga R, Polimeni N, Suraci E, Marasco R, Imeneo M, Boccuto L, Luzza F. Trends and characteristics associated with dietary triggers and psychological distress in patients with irritable bowel syndrome: a cross-sectional study. Eur Rev Med Pharmacol Sci. 2021 May;25(10):3752-3761.

    Meaddough EL, 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):409-422. doi: 10.1038/s41397-021-00224-w. Epub 2021 Jun 17. PMID: 34140647

    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.

    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;16(7):e0253859. doi: 10.1371/journal.pone.0253859. eCollection 2021.PMID: 34228749 Free PMC article.

    Schenkel LC, Aref-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.

    Del Baldo G, Carta R, Alessi I, Merli P, Agolini E, Rinelli M, Boccuto L, Milano GM, Serra A, Carai A, Locatelli F, Mastronuzzi A. Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management. Front Oncol. 2021 Feb 22;11:586288.

    Boni A, Ranalli M, Del Baldo G, Carta R, Lodi M, Agolini E, Rinelli M, Valentini D, Rossi S, Alesi V, Cacchione A, Miele E, Alessi I, Caroleo AM, Colafati GS, De Ioris MA, Boccuto L, Balducci M, Carai A, Mastronuzzi A. Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis. Diagnostics (Basel). 2021 Feb 7;11(2):254.

    Larussa T, Boccuto L, Luzza F, Abenavoli L. Potential role of fecal gluten immunogenic peptides to assess dietary compliance in celiac patients. Minerva Gastroenterol (Torino). 2021 Mar;67(1):69-71.

    Caroleo AM, De Ioris MA, Boccuto L, Alessi I, Del Baldo G, Cacchione A, Agolini E, Rinelli M, Serra A, Carai A, Mastronuzzi A. DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk. Front Oncol. 2021 Jan 21;10:614541.

    Spadera L, Viola P, Pisani D, Scarpa A, Malanga D, Sorrentino G, Madini E, Laria C, Aragona T, Leopardi G, Maggiore G, Ciriolo M, Boccuto L, Pizzolato R, Abenavoli L, Cassandro C, Ralli M, Cassandro E, Chiarella G. Sudden olfactory loss as an early marker of COVID-19: a nationwide Italian survey. Eur Arch Otorhinolaryngol. 2021 Jan;278(1):247-255.

    Pauly R, Ziats CA, Abenavoli L, Schwartz CE, Boccuto L. New Strategies for Clinical Trials in Autism Spectrum Disorder. Rev Recent Clin Trials. 2021;16(2):131-137.

    2020

    Cacchione A, Lodi M, Carai A, Miele E, Tartaglia M, Megaro G, Del Baldo G, Alessi I, Colafati GS, Carboni A, Boccuto L, Diomedi Camassei F, Catanzaro G, Po A, Ferretti E, Pedace L, Pizzi S, Folgiero V, Pezzullo M, Corsetti T, Secco DE, Cefalo MG, Locatelli F, Mastronuzzi A. Upfront treatment with mTOR inhibitor everolimus in pediatric low-grade gliomas: A single-center experience. Int J Cancer. 2020 Dec 15.

    Ceglie G, Del Baldo G, Agolini E, Rinelli M, Cacchione A, Del Bufalo F, Vinci M, Carta R, Boccuto L, Miele E, Mastronuzzi A, Locatelli F, Carai A. Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas. Front Pediatr. 2020 Nov 12;8:561487.

    Ganakammal SR, Alexov E. Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants. PeerJ. 2019 Nov 27;7:e8106. doi:10.7717/peerj.8106. eCollection 2019. PubMed PMID: 31799076; PubMed Central PMCID: PMC6884988.

    Ganakammal, SR. & Alexov, E. (2020). In-silico analysis to identify the role of MEN1 missense mutations in breast cancer. Journal of Theoretical and Computational Chemistry.

    Jain L, Sarasua S, & Boccuto L. 'Effects of deletion sizes and second-hits on seizures in patients with Phelan-McDermid syndrome'. 2020 Healthcare Genetics Research Symposium held virtually on July 31, 2020. 

    Carta R, Del Baldo G, Miele E, Po A, Besharat ZM, Nazio F, Colafati GS, Piccirilli E, Agolini E, Rinelli M, Lodi M, Cacchione A, Carai A, Boccuto L, Ferretti E, Locatelli F, Mastronuzzi A. Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era. Front Oncol. 2020 Oct 29;10:566822.

    Spagnuolo R, Larussa T, Iannelli C, Cosco C, Nisticò E, Manduci E, Bruno A, Boccuto L, Abenavoli L, Luzza F, Doldo P. COVID-19 and Inflammatory Bowel Disease: Patient Knowledge and Perceptions in a Single Center Survey. Medicina (Kaunas). 2020 Aug 13;56(8):407.

    Sow, C, Laughhunn A, Girard YA, Lanteri MC, El Dusouqui SA, Stassinopoulos A and Grellier P. Inactivation of Plasmodium falciparum in whole blood using the amustaline and glutathione pathogen reduction technology. Transfusion 2020; doi:10.1111/trf.15734.   

    Fredrikson KM, Fasolino T. Pharmacogenetic Testing: The Ethics of Implementing in Clinical Practice for Chronic Pain Patients. J Pain Palliat Care Pharmacother. 2020 Jun;34(2):69-76. doi: 10.1080/15360288.2019.1707929. Epub 2020 Jan 7. PMID: 31909692

    Lowe, T. B., DeLuca, J., & Arnold, G. A. (2020). Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe. Orphanet Journal of Rare Diseases, 15(266). doi:  10.1186/s13023-020-01541-2

    Lowe, T. B., DeLuca, J., & Arnold, G. A. (2020). Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners. Journal for Specialists in Pediatric Nursing. doi: 10.1111/jspn.12312

    Paquin M, Fasolino T. Renal Cell Cancer Syndromes: Identification and Management of Patients and Families at Increased Risk. Clin J Oncol Nurs. 2020 Aug 1;24(4):356-359. doi: 10.1188/20.CJON.356-359. PMID: 32678365

    Paquin M, Fasolino T, Steck MB. Breast Cancer Risk Prediction Models: Challenges in Clinical Application. Clin J Oncol Nurs. 2019 Jun 1;23(3):256-259. doi: 10.1188/19.CJON.256-259. PMID: 31099796 Review.

    Schenkel LC, Aref-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 Free PMC article.

    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. doi: 10.1016/j.ejmg.2020.104042. Online ahead of print. PMID: 32822873

    Roxana Moslehi, Cristy Stagnar, Sneha Srinivasan, Pawel Radziszowski, and David O. Carpenter.  The Role of Arsenic and Gene-Arsenic Interactions in Susceptibility to Breast Cancer: A Systematic Review. Reviews on Environmental Health.

    Moslehi, R., Tsao, H. S., Zeinomar, N., Stagnar, C., Fitzpatrick, S., & Dzutsev, A. (2020). Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer. Scientific Reports10(1), 1-13.

    Lodi M, Boccuto L, Carai A, Cacchione A, Miele E, Colafati GS, Diomedi Camassei F, De Palma L, De Benedictis A, Ferretti E, Catanzaro G, Pò A, De Luca A, Rinelli M, Lepri FR, Agolini E, Tartaglia M, Locatelli F, Mastronuzzi A. Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature. Diagnostics (Basel). 2020 Aug 12;10(8):582.

    Larussa T, Flauti D, Abenavoli L, Boccuto L, Suraci E, Marasco R, Imeneo M, Luzza F. The Reality of Patient-Reported Outcomes of Health-Related Quality of Life in an Italian Cohort of Patients with Inflammatory Bowel Disease: Results from a Cross-Sectional Study. J Clin Med. 2020 Jul 28;9(8):2416.

    Aquila I, Sacco MA, Abenavoli L, Malara N, Arena V, Grassi S, Ausania F, Boccuto L, Ricci C, Gratteri S, Oliva A, Ricci P. Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic. Arch Pathol Lab Med. 2020 Sep 1;144(9):1048-1056.

    Abenavoli L, Cinaglia P, Luzza F, Gentile I, Boccuto L. Epidemiology of Coronavirus Disease Outbreak: The Italian Trends. Rev Recent Clin Trials. 2020;15(2):87-92.

     

  • Presentations from HCG Students and Faculty

    Selected Recent Presentations

    Lowe, T., Shu, L., Boyd, J., Taylor, A., Forney, J., DeLuca, J.M. (2022). Translational science for newborn screening: Understanding health systems infrastructure for newborn screening related to physician of record. Council for the Advancement of Nursing Science, Washington, D.C. September 15-17.

    Latour, R.A., DeLuca, J.M., Champaigne, N.L. (2022). Clinical trial of a breath-test for ammonia as a potential at home monitoring method for urea-cycle disorders. 39th Annual meeting of the Southeastern Regional Genetics Group, Asheville, NC, July 14-17, 2022.

    Lowe, T., Hitt, J., Taylor, A., Boyd, J., Shu, L., DeLuca, J.M. (2022). Improving blood spot quality in newborn screening: Outcomes of an action research project. 39th Annual meeting of the Southeastern Regional Genetics Group, Asheville, NC, July 14-17, 2022.

    Cooley Coleman, J.A., Sarasua, S.M, Moore, H.W., Boccuto, L., Cowan, C.W., Skinner, S.A., DeLuca, J.M. (2022). Clinical findings from the landmark MEF2C-related disorders natural history study. Poster. 39th Annual meeting of the Southeastern Regional Genetics Group, Asheville, NC, July 14-17, 2022.

    Sarasua, S., DeLuca, J.M., Powder, K., Weisensee, K., Renner, L., Boccuto, L. (2021). Macrocephaly in Phelan-McDermid Syndrome: genomic regions of interest and correlation with Imaging Results. 44th Annual Meeting of the Society for Craniofacial and Developmental Biology (Virtual), October 18-19, 2021.

    Butler KM, Patterson WG, Tedder M, Lee JA, Louie RJ, Geneviève D, Sadikovic B. Novel Pathogenic Sequence Variants in Yin Yang 1 (YY1) Transcription Factor and Abnormal DNA Methylation Profile. Poster presented at: ACMG Annual Clinical Genetics Meeting; 2021 April 13- 16; Virtual. 

    Patterson, Wesley-presentation at the Clinical Genetics Advanced Practice Provider (CGAPP) Conference on 9/29/2021.  Title: Genetics 101

    Patterson WG, Abidi FE, Gass JM, Dobson AT, Lichty AW, Lyda SF, Ziats CA, Cooley Coleman JA, Prijoles EJ,DuPont BR, Skinner SA, Stevenson RE. Using Pyrosequencing to Determine the Allele Origin of 15q Duplication Syndrome. Poster presented at: ACMG Annual Clinical Genetics Meeting; 2021 April 13-16; Virtual. 

    Shi X, Abidi F, Butler K, Cooley Coleman J, Louie R, Caylor R, Jones J, Friez M, Lee J. Performance of In Silico Splice Tools Used at the GGC for Decision Making in Molecular Diagnosis. Poster presented at: ACMG Annual Clinical Genetics Meeting; 2021 April 13-16; Virtual. 

    Lagoe, E., Aptekar, L., Beretich, L., Shaw, J., Sotile, C., van den Berg, S., Wong, M., Dillon, M., Birch, A., Zimmerman, Edelmann, L., & Kornreich, R. (2020). Identification of hemizygous males by expanded carrier screening. American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, Poster Presentation, Virtual. 

    Stagnar, Christy-guest speaker in a STEM career panel at the Bridge High School Equivalency (HSE) program at LaGuardia Community College (2020).

  • Partners

    Clemson University offers a unique college structure that lends itself to collaborative work. The Healthcare Genetics program has strong relationships with a variety of collaborators and Clemson University research partnerships. These are a few of the working relationships that enrich our program.

    Partners

    • The Greenwood Genetic Center
    • Prisma Health Greenville Memorial
    • Bon Secours St. Francis Health System
    • Medical University of South Carolina
    • JC Self Regional Medical Center
    • Clemson University:
      • Genomics and Bioinformatics
      • Department of Psychology
      • Department of Political Science
      • Department of Genetics and Biochemistry
      • College of Education
      • Palmetto Cluster
      • Mathematical and Statistical Sciences
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  • Contact

    Ellen B. Chiles, M.Ed
    Student Services Coordinator
    Office: 467 CU Nursing building
    Phone: 864-720-2052
    Email: achiles@clemson.edu

Healthcare Genetics and Genomics Laboratory

The Healthcare Genetics and Genomics Laboratory, located in Edwards Hall on the main Clemson University campus, is fully stocked with requisite laboratory equipment and supplies for cell culture, cell sorting, PCR and real-time PCR, gel electrophoresis, microscopy, metabolomics, and related tasks. The laboratory is certified as a BSL-2 laboratory and approved to use human tissue samples, typically blood specimens, lymphoblastoid cell lines, and cancer cell lines. The laboratory has a dedicated manager, Dr. Diana Ivankovic, who oversees daily operations, and is available to ensure laboratory projects have needed facility support. Dr. Ivankovic provides training and supervision to technicians and graduate student researchers as well as undergraduate students. Dr. Luigi Boccuto is a core member of the HCG Laboratory research program who also provides mentoring of students with a focus on rare disease and cancer therapeutics. Current research projects include work on Phelan-McDermid syndrome, autism spectrum disorder, SATB2-associated syndrome, Snyder-Robinson syndrome, and breast cancer therapeutics. The laboratory welcomes collaborative research with other departments and institutions.

Healthcare Genetics and Genomics Laboratory
School of Nursing
School of Nursing | 414 Edwards Hall