Rudy, Natasha

Natasha joined the Greenwood Genetic Center in 2022 from the University of Alabama at Birmingham where she was a clinical genetic counselor for general genetics and cancer genetics. Natasha is a graduate of the Genetic Counseling Program at the University of South Carolina. She works in GGC’s Greenville office providing general genetic counseling for pediatric and adult patients. Natasha is a member of the National Society of Genetic Counselors and is certified by the American Board of Genetic Counseling.

Education

  • B.S., Biology, Wofford College, 2014
  • B.A., Mathematics, Wofford College, 2014
  • M.S., Genetic Counseling, University of South Carolina, 2016

Contact Information

Office : (864) 678-7890
[email protected]

Publications

  • Upadia, J., Gonzales, P. R., Atkinson, T. P., Schroeder, H. W., Robin, N. H., Rudy, N. L., & Mikhail, F. M. (2018). A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C. American Journal of Medical Genetics. Part A176(12), 2791–2797. https://doi.org/10.1002/ajmg.a.40492
  • Gonzales, P. R., Andersen, E. F., Brown, T. R., Horner, V. L., Horwitz, J., Rehder, C. W., Rudy, N. L., Robin, N. H., Thorland, E. C., & On Behalf Of The ACMG Laboratory Quality Assurance Committee (2022). Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine : Official Journal of the American College of Medical Genetics24(2), 255–261. https://doi.org/10.1016/j.gim.2021.10.004
  • Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hsieh, T. C., Wagle, P., Budde, B. S., Hochscherf, J., Abdullah, U., Höning, S., Nienberg, C., Lindenblatt, D., Noegel, A. A., Altmüller, J., Thiele, H., Motameny, S., Fleischer, N., Segal, I., Pais, L., Tinschert, S., …Rudy, N. L.,… Hussain, M. S. (2022). De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. HGG Advances3(3), 100111. https://doi.org/10.1016/j.xhgg.2022.100111
  • Isidor, B., Ebstein, F., Hurst, A., Vincent, M., Bader, I., Rudy, N. L., Cogne, B., Mayr, J., Brehm, A., Bupp, C., Warren, K., Bacino, C. A., Gerard, A., Ranells, J. D., Metcalfe, K. A., van Bever, Y., Jiang, Y. H., Mendelssohn, B. A., Cope, H., Rosenfeld, J. A., … Stankiewicz, P. (2022). Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Genetics in Medicine : Official Journal of the American College of Medical Genetics24(1), 179–191. https://doi.org/10.1016/j.gim.2021.09.005

Newton, Haley

Haley joined GGC’s education division in 2022. She is one of our genetics education instructors who travel across South Carolina to provide students with laboratory experiences. She works with students in their classrooms, on the Gene Machine Mobile Science Lab, and at the GGC campus. Her goal is to spread excitement for genetics education and the STEM field.

Contact Information

Office (864) 941-8194
[email protected]

Education

  • B.A., Public Health, College of Charleston, 2019

Matheny, Courtney

Dr. Matheny joined the laboratory of Dr. Heather Flanagan-Steet at GGC in 2022. After earning her Bachelors in Microbiology from the University of Georgia, she worked for two years as a technician in the Steet laboratory where she discovered a passion for biomedical and translational research.  Matheny obtained a PhD in Biochemistry, Cell, and Developmental Biology in the laboratory of Dr. Guy M. Benian at Emory University. When the time came for her to decide where to do her postdoctoral work, she was eager to return to the lab of Dr. Flanagan-Steet and the work that originally drove her to earn a PhD.

Dr. Matheny’s  work in graduate school was focused on understanding the molecular mechanisms involved in muscle ageing and how to modulate these mechanisms to prolong the health of the sarcomeric structures within muscle fibers. She utilized the C. elegans nematode model to study the conserved Myosin head chaperone UNC-45, which is responsible for folding and assembling newly synthesized Myosin into the thick filament of the sarcomere, as well as maintaining the Myosin that is already stably assembled in the sarcomere. Dr. Matheny enjoys learning and working with new animal model systems and dreams of being able to utilize multiple models to provide a better understanding of complex biological and biochemical pathways.

At GGC, Dr. Matheny will be using zebrafish to investigate the neuronal pathologies observed in lysosomal storage disorders and congenital disorders of glycosylation. She is interested in discovering whether the pathologies that these disorders share have similar causes that could be treated in similar manners. One of her main areas of focus will be determining how loss of the NogoB receptor (NgBR, NUS1) impacts specific cell types within the hindbrain and if the cholesterol accumulation observed after NgBR loss impairs myelination and/or increases lysosomal exocytosis.

Contact Information

Office: (864) 388-1804
[email protected]

Education

  • B.S., Microbiology, University of Georgia, 2015
  • Ph.D., Biochemistry, Cell, and Developmental Biology, Emory University, 2022

Selected Publications

  • UNC-45 has a crucial role in maintaining muscle sarcomeres during aging in Caenorhabditis elegans. Courtney J. Matheny, Hiroshi Qadota, Marion Kimelman, Aaron O. Bailey, Andres F. Oberhauser, Guy M. Benian. bioRxiv 2022.06.04.494828; doi: https://doi.org/10.1101/2022.06.04.494828
  • Moncrief T, Matheny CJ, Gaziova I, Miller JM, Qadota H, Benian GM, Oberhauser AF. Mutations in conserved residues of the myosin chaperone UNC-45 result in both reduced stability and chaperoning activity. Protein Sci. 2021 Nov;30(11):2221-2232. doi: 10.1002/pro.4180. Epub 2021 Sep 28. PMID: 34515376; PMCID: PMC8521276.
  • Gaziova I, Moncrief T, Christian CJ, Villarreal M, Powell S, Lee H, Qadota H, White MA, Benian GM, Oberhauser AF. Mutational Analysis of the Structure and Function of the Chaperoning Domain of UNC-45B. Biophys J. 2020 Aug 18;119(4):780-791. doi: 10.1016/j.bpj.2020.07.012. Epub 2020 Jul 22. PMID: 32755562; PMCID: PMC7451893.
  • Lu PN, Moreland T, Christian CJ, Lund TC, Steet RA, Flanagan-Steet H. Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation. JCI Insight. 2020 Oct 15;5(20):e133019. doi: 10.1172/jci.insight.133019. PMID: 33055423; PMCID: PMC7605527.
  • Flanagan-Steet H, Matheny C, Petrey A, Parker J, Steet R. Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology. Biochim Biophys Acta. 2016 Sep;1860(9):1845-53. doi: 10.1016/j.bbagen.2016.05.029. Epub 2016 May 27. PMID: 27241848; PMCID: PMC4949139

Sahajpal, Nikhil

Dr. Sahajpal is a Laboratory Genetics and Genomics (LGG) fellow at the Greenwood Genetic Center. Before joining GGC, Dr. Sahajpal worked as a post-doctoral fellow at Augusta University, GA, US, where he was involved in investigating molecular and cytogenetic methodologies for prenatal, postnatal, hematological malignancies and solid tumor applications. As the world struggled with the COVID-19 pandemic, Dr. Sahajpal played a key role in establishing COVID-19 FDA-EUA approved diagnostic testing and research at Augusta University and is a key contributor of the COVID-19 host genome SV consortium.

Contact Information

Office: (864) 388-1712
[email protected]

Education

  • Bachelors in Pharmacy, MMU, Haryana, India
  • Master in Pharmacology, KLE University, Belgaum, India
  • Ph.D. (Pharmaceutical Sciences), Guru Nanak Dev University, Punjab, India

Awards

Dr. Sahajpal has been the recipient of several international awards, including, Council of Scientific and Industrial Research (CSIR) Senior Research Fellowship Award (by the Government of India), the Developing Country Eye Research Fellowship (DECRF) award by the Association of Research in Vision and Ophthalmology (2017), the second-place best technologist award at the Annual Cancer Genomics Consortium meeting for two consecutive years (2020 and 2021), and the ACMG Laboratory Genetics and Genomics Next-generation Fellowship award (2022).

Selected Publications

  • Sahajpal NS, Lai CY, Hastie A, Mondal AK, Dehkordi SR, van der Made CI, Fedrigo O, Al-Ajli F, Jalnapurkar S, Byrska-Bishop M, Kanagal-Shamanna R et al. Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19. Iscience. 2022 Feb 18;25(2):103760.
  • Sahajpal NS, Mondal AK, Njau A, Petty Z, Chen J, Ananth S, Ahluwalia P, Williams C, Ross TM, Chaubey A, DeSantis G. High-Throughput Next-Generation Sequencing Respiratory Viral Panel: A Diagnostic and Epidemiologic Tool for SARS-CoV-2 and Other Viruses. Viruses. 2021 Oct 14;13(10):2063.
  • Sahajpal NS, Mondal AK, Ananth S, Njau A, Ahluwalia P, Kota V, Caspary K, Ross TM, Farrell M, Shannon MP, Fulzele S. Clinical validation of a sensitive test for saliva collected in healthcare and community settings with pooling utility for severe acute respiratory syndrome coronavirus 2 mass surveillance. The Journal of Molecular Diagnostics. 2021 Jul 1;23(7):788-95.
  • Sahajpal NS, Mondal AK, Njau A, Ananth S, Jones K, Ahluwalia PK, Ahluwalia M, Jilani Y, Chaubey A, Hegde M, Kota V. Proposal of RT-PCR–Based Mass Population Screening for Severe Acute Respiratory Syndrome Coronavirus 2 (Coronavirus Disease 2019). The Journal of Molecular Diagnostics. 2020 Oct 1;22(10):1294-9.
  • Sahajpal NS, Barseghyan H, Kolhe R, Hastie A, Chaubey A. Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses. Genes. 2021 Mar 11;12(3):398.
  • Sahajpal NS, Mondal AK, Ananth S, Njau A, Ahluwalia P, Jones K, Ahluwalia M, Okechukwu N, Savage NM, Kota V, Rojiani AM. Clinical performance and utility of a comprehensive next-generation sequencing DNA panel for the simultaneous analysis of variants, TMB and MSI for myeloid neoplasms. PloS one. 2020 Oct 19;15(10):e0240976.
  • Sahajpal N, Kowluru A, Kowluru RA. The regulatory role of Rac1, a small molecular weight GTPase, in the development of diabetic retinopathy. Journal of Clinical Medicine. 2019 Jul 3;8(7):965.

Black, Emily

Dr. Black joined Greenwood Genetic Center in July of 2022. She is a clinical geneticist with additional training in metabolic diseases, located in the Greenville office. She is boarded in General Pediatrics (2017), Clinical Genetics and Genomics (2019) and Clinical Biochemical Genetics (2021). Dr. Black sees patients in both general genetics and metabolic clinics.

Contact Information

Office (864) 250-7944
[email protected]

Education/Faculty Appointments

  • B.S., Biology, Presbyterian College, Clinton, SC,  2010
  • M.D., South Carolina School of Medicine, Columbia, SC, 2014
  • Residency in General Pediatrics, University of Virginia, 2014-2017
  • Residency in Medical Genetics, Emory University, 2017-2019
  • Fellowship in Medical Biochemical Genetics, Emory University, 2019-2020
  • Attending Physician, The Emory Clinic, Atlanta, GA, 2020-2022
  • Clinical Assistant Professor, Emory University School of Medicine, Atlanta, GA, 2020-2022

Selected Publications

  • Van Gorkom, C, Black, E, Karlik, J. Anesthetic Management of a Patient with S‐Adenosylhomocysteine Hydrolase (AHCY) Deficiency: A Case Report. A&A Practice. Vol. 16, No. 4, April 2022.
  • Yap, ZY, et al. including Black, ED. Functional Interpretation of ATAD3A Variants in Neuro-mitochondrial phenotypes. Genome Medicine. 2021 Apr.
  • Shah, A, Black, ED, et al. Heterogeneous Pulmonary Phenotypes in Filamin A Mutation Related Lung Disease. Pediatric Allergy, Immunology, and Pulmonology. 2021 Mar.
  • Russo, RS, et al. including Black, ED, et al. Deep Phenotyping in 3q29 Deletion Syndrome: Recommendations for Clinical Care. Genetics in Medicine. 2021 Feb 9.
  • Pollak RM, et al. including Black, ED. New Phenotypes Associated with 3q29 Duplication Syndrome: Results from the 3q29 Registry. Am J Med Genet A. 2020 Mar 10.
  • Pollak RM, et al. including Black, ED. Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry. Mol Autism. 2019 Jul 16.
  • Lusk, L, Black, E and Vengoechea, J. Autosomal dominant and recessive forms of WFS1-related disease in the same family: expanding the phenotypic spectrum of Wolfram Syndrome. Journal of Medical Genetics 2019.
  • Sadhwani, A., Sanjana, N. E., Willen, J. M., Calculator, S. N., Black, E. D., Bean, L. J., Tan, W. Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform. American Journal of Medical Genetics Part A, 2018.

Cooley Coleman, Jessica

Dr. Cooley Coleman joined the Greenwood Genetic Center in 2010 as a Molecular Laboratory Technologist. She was promoted to Lab Manager in 2016. In 2019, she joined the Healthcare Genetics PhD program at Clemson University while continuing to work full time at GGC. After completing her PhD in 2022, she assumed the position of Staff Scientist for the Molecular Diagnostic Laboratory at GGC and began her Laboratory Genetics and Genomics (LGG) fellowship in 2023.

Dr. Cooley Coleman is a board certified technologist in molecular biology through the American Society of Clinical Pathology. She is a member of the Association of Genetic Technologists, the American Society of Human Genetics, and the American College of Medical Genetics and Genomics.

Contact Information

Office (864) 941-8188
Fax (864) 941-8141
[email protected]

Education

  • BS, Biology, Erskine College, 2010
  • PhD, Healthcare Genetics, Clemson University, 2022
  • Molecular Technologist, Molecular Diagnostic Laboratory, Greenwood Genetic Center, 2010-2016
  • Lab Manager, Molecular Diagnostic Laboratory, Greenwood Genetic Center, 2016-2022
  • Staff Scientist, Molecular Diagnostic Laboratory, Greenwood Genetic Center, 2022-2023
  • Laboratory Genetics and Genomic Fellow, Greenwood Genetic Center, 2023-present

Publications

  • Washington, C., Stolerman, E., Cooley Coleman, J. A., Jones, J. R., Chen-Deutsch, X. (2023). RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy. Clinical Case Reports. Advance online publication. https://doi.org/10.1002/ccr3.7165
  • Cooley Coleman, J. A., Gass, J. M., Srikanth, S., Pauly, R., Ziats, C. A., Everman, D. B., Skinner, S. A., Bell, S., Louie, R. J., Cascio, L., Patterson, W. G., Jones, J. R., Di Donato, N., Stevenson, R. E., Boccuto, L. (2022). Clinical and Functional Characterization of Germline PIK3CA Variants in Patients with PIK3CA-related Overgrowth Spectrum Disorders. Human Molecular Genetics, 32(9), 1457–1465. https://doi.org/10.1093/hmg/ddac296
  • McGee, S., Rajamanickam, S., Adhikari, S., Falayi, O., Wilson, T., Shayota, B., Cooley Coleman, J. A., Skinner, C., Caylor, R., Stevenson, R., Quaio, C.R. D.C., Wilke, B., Bain, J.M., Anyane-Yeboa, K., Brown, K., Greally, J. Bijlsma, E., Ruivenkamp, C., Politi, K., Arbogast, L., Collard, M., Huggenvik, J., Elsea, S., Jensik, P. (2023). Expansion and mechanistic insights of de novo DEAF1 variants in DEAF1-associated developmental disorders. Human Molecular Genetics, 32(3), 386–401. https://doi.org/10.1093/hmg/ddac200
  • Cooley Coleman, J. A., Fee, T., Bend, R., Louie, R., Annese, F., Stallworth, J., Worthington, J., Buchanan, C. B., Everman, D. B., Skinner, S., Friez, M., Jones, J. R., Spellicy, C. J. (2022). Mosaicism of Common Pathogenic MECP2 Variants Identified in Two Males with a Clinical Diagnosis of Rett Syndrome. American Journal of Medical Genetics Part A, 188(10), 2988–2998.. https://doi.org/10.1002/ajmg.a.62913
  • Sohn, Y. B., Roger, C., Stallworth, J., Cooley Coleman, J. A., Buch, L., Jozwiak, E., Johnson, J. A., Wood, T., Harmatz, P., Pollard, L., Louie, R. J. (2022). RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A. Molecular Genetics and Metabolism Reports, 31 (2022), 100875. https://doi.org/10.1016/j.ymgmr.2022.100875
  • 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. Molecular Genetics & Genomic Medicine, 10(6), e1919. https://doi.org/10.1002/mgg3.1919
  • Cooley Coleman, J. A., Sarasua, S. M., Boccuto, L., Moore, H. W., Skinner, S. A., & DeLuca, J. M. (2021). Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review. American Journal of Medical Genetics, Part A, 185(12), 3884–3894. https://doi.org/10.1002/ajmg.a.62412
  • Cooley Coleman, J. A., Sarasua, S. M., Boccuto, L., Moore, H. W., Skinner, S. A., & DeLuca, J. M. (2021). Tremors: A concept analysis. Nursing open, 8(5), 2419–2428. https://doi.org/10.1002/nop2.840
  • Gong B, Li D, Kusko R, Novoradovskaya N, Zhang Y, Wang S, Pabón-Peña C, Zhang Z, Lai K, Cai W, LoCoco JS, Lader E, Richmond TA, Mittal VK, Liu LC, Johann DJ Jr, Willey JC, Bushel PR, Yu Y, Xu C, Chen G, Burgess D, Cawley S, Giorda K, Haseley N, Qiu F, Wilkins K, Arib H, Attwooll C, Babson K, Bao L, Bao W, Lucas AB, Best H, Bhandari A, Bisgin H, Blackburn J, Blomquist TM, Boardman L, Burgher B, Butler DJ, Chang CJ, Chaubey A, Chen T, Chierici M, Chin CR, Close D, Conroy J, Coleman JC, … Xu J (2021). Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions. Genome biology, 22(1), 109. https://doi.org/10.1186/s13059-021-02315-0

Price, Lindsey

Lindsey joined the Greenwood Genetic Center (GGC) in 2022 as the Director of Facilities and Safety. Prior to joining GGC, she served as Facilities Manager at Self Regional Healthcare. With eleven years’ experience in a healthcare setting, Lindsey brings with her a background in building and grounds maintenance, contracts/lease management, safety rounds, quality, and compliance. Lindsey is a DNV Certified Healthcare Operations Professional, and a member of the American Society of Health Care Engineers. She is also a Greenwood County native.

Contact Information

Office: (864) 941-8104
[email protected]

Education

  • B.S., Health Administration, Clemson University, 2009
  • Master of Healthcare Administration (MHA), Medical University of South Carolina, 2011

Carroll, Kyle

Kyle joined the Greenwood Genetic Center in 2022 as a genetic assistant in the Greenville office. His roles include taking vital signs, obtaining insurance authorizations and supporting the Greenville clinic by obtaining and reviewing family and medical history and providing assistance throughout patient appointments. Kyle is also involved in GGC’s E-visit initiative to improve access to genetic services to our patients.

Contact Information

Office: (864) 672-6898
Fax: (864) 250-9582
[email protected]

Education

  • University of North Carolina at Chapel Hill, B.S., Biology, 2019

Lay, Drew

Drew, a Greenwood native, joined GGC as a molecular lab technologist in 2015. While in the lab, he focused on database management, assay development, and performing various laboratory tests. He received certification from the American Society for Clinical Pathology in 2016 as a technologist in molecular biology.

After receiving his Master’s degree in 2021, he transitioned to the bioinformatics team, where he is responsible for development and maintenance of bioinformatics pipelines. He is also involved in the management of the molecular lab’s in-house Laboratory Information Management System (LIMS), and focuses primarily on troubleshooting and improvement of bioinformatics workflows.

Education

  • B.S., Bioengineering, Clemson University, 2014
  • M.S., Bioinformatics, Johns Hopkins University, 2021

Awards

Susan R. Patterson Professional Development Award in Bioinformatics & Computational Genomics, 2022

Keener, Cady Nell

Cady Nell joined the Greenwood Genetic Center (GGC) Foundation in 2022 as the Executive Director. She oversees the day-to-day operations of the foundation, the fundraising arm of the Greenwood Genetic Center. Cady Nell works collaboratively across the GGC campus and externally with philanthropists who are eager to support the mission of the GGC. She comes to the GGC after 9.5 years in higher education development, most recently serving as the Associate Vice President for Development & Special Gifts at Charleston Southern University. Cady Nell became a Certified Fund Raising Executive (CFRE) in 2020.

Contact Information

Office (864)388-1813
Email [email protected]

Education

  • B.S., Business Administration, University of South Carolina, 2009
  • M.B.A., Charleston Southern University, 2015
Adult man smiling with his mother

Meet Reuben

Reuben has been part of the GGC family for nearly all of his life! He was diagnosed with propionic acidemia as an infant and receives life-saving care from GGC's metabolic treatment team Dr. Schroer, Mitzi, and Dr. Burns. Reuben lights up our office every time he visits!...

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