Jennifer Gass, PhD

Fellow, Laboratory Genetics and Genomics

JenGassDr. Gass is a fellow in the Laboratory Genetics and Genomics training program at the Greenwood Genetic Center (GGC). She received a Ph.D. in molecular neuroscience from Mayo Clinic, where she investigated the pathogenicity of progranulin variants associated with frontotemporal dementia (FTD) and its neurotrophic functions in cellular and animal models. As a postdoctoral fellow, she continued her research in the molecular mechanisms underlying neurodegenerative diseases, including Alzheimer's disease, FTD and amyotrophic lateral sclerosis. Additionally, Dr. Gass spent a year as a fellow in the Department of Clinical Genomics at Mayo Clinic where she focused on scientific writing and development of molecular assays to investigate variants of uncertain significance.

As a fellow at GGC, Dr. Gass is training in the implementation and interpretation of both molecular and cytogenetic diagnostic tests, as well as the development and validation of novel assays for use in clinical settings.

Selected Publications

  • Gass J, Blackburn P, Jackson J Macklin S, Van Gerpen J, Atwal PS. Expanded phenotype in a patient with spastic paraplegia 7. Clinical Case Reports. 2017 (Accepted)

  • Gass J, Cheema, A, Jackson J, Blackburn P, Van Gerpen J, Atwal PS. Novel GFAP variant in adult-onset alexander disease with progressive ataxia and palatal tremor. The Neurologist. 2017 (Accepted)

  • Macklin S, Gass J, Mitri G, Atwal PS, Hines S. The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations. Fam Cancer. 2017 Jun 22.

  • Blackburn PR, Selcen D, Gass JM, Jackson JL, Macklin S, Cousin MA, Boczek NJ, Klee EW, Dimberg EL, Kennelly KD, Atwal PS. Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1. Mol Genet Genomic Med. 2017 Mar

  • Gass J, Blackburn P, Harris K, Selcen D, Dimberg E, Atwal P.S. Whole exome sequencing identifies atypical Welander distal myopathy in patient. J Clin Neuromuscul Dis. 2017 Mar.

  • Gass J, Jackson J, Hines S, Atwal P.S. A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant 698del4. Familial Cancer. 2017 Apr 3.

  • Gass J, Tatro M, Blackburn P, Hines S, Atwal P.S. BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. Clinical Case Reports. 2017 Jan 4.

  • Blackburn PR, Zimmermann MT, Gass JM, Harris KG, Cousin MA, Boczek NJ, Ross OA, Klee EW, Brazis PW, Van Gerpen JA, Atwal PS. A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics. BMC Med Genet. 2016 Dec.

  • Gass JM, McKay J, Guthrie K, Boczek N, Atwal PS, Van Gerpen J. A Case of Two Repeats: Huntington's Disease & Spinocerebellar Ataxia Type 8. Movement Disorders Clinical Practice. 2016 Jul 23.

  • Zhang Y-J, Gendron T, Grima, JC, Sasaguri H, Jansen-West K, Xu, Y-F, Katzman, R B, Gass, J, Murray ME, Shinohara M, Lin W -L, Garrett A, Stankowski JN, Daughrity L, Tong J, Perkerson EA, Petrucelli L. C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins Nature Neuroscience 2016 May.

  • Prudencio M, Jansen-West K, Lee W, Gendron T, Zhang Y, Xu Y, Gass J, Stuani C, Stetler C, Rademakers R, Dickson D, Buratti E, Petrucelli L Misregulation of human sortilin splicing leads to the generation of a non-functional progranulin receptor PNAS 2012 Dec

  • Gass J, Lee WC, Cook C, Finch N, Stetler C, Jansen-West K, Lewis J, Link CD, Rademakers R, Nykjær A, Petrucelli L Progranulin regulates neuronal outgrowth independent of Sortilin Mol Neurodegener 2012 Jul 10

  • Gass J, Prudencio M, Stetler C, Petrucelli L Progranulin: An emerging target for FTLD therapies Brain Res 2012 Jun 26

  • Ahmed Z, Sheng H, Xu YF, Lin WL, Innes AE, Gass J, Yu X, Wuertzer CA, Hou H, Chiba S, Yamanouchi K, Leissring M, Petrucelli L, Nishihara M, Hutton ML, McGowan E, Dickson DW, Lewis J Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging Am J Pathol 2010 Jul

  • Cook C, Gass J, Dunmore J, Tong J, Taylor J, Eriksen J, McGowan E, Lewis J, Johnston J, Petrucelli L Aging is not associated with proteasome impairment in UPS reporter mice PLoS One 2009 Jun

  • Zhang YJ, Xu YF, Cook C, Gendron TF, Roettges P, Link CD, Lin WL, Tong J, Castanedes-Casey M, Ash P, Gass J, Rangachari V, Buratti E, Baralle F, Golde TE, Dickson DW, Petrucelli L Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity Proc Natl Acad Sci U S A 2009 May

  • Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis PLoS Genet 2008 Sep

  • Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative Lancet Neurol 2007 Oct

  • Pickering-Brown SM, Baker M, Gass J, Boeve BF, Loy CT, Brooks WS, Mackenzie IR, Martins RN, Kwok JB, Halliday GM, Kril J, Schofield PR, Mann DM, Hutton M Mutations in progranulin explain atypical phenotypes with variants in MAPT Brain 2006

  • Mackenzie IR, Baker M, Pickering-Brown S, Hsiung GY, Lindholm C, Dwosh E, Gass J, Cannon A, Rademakers R, Hutton M, Feldman HH The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene Brain 2006

  • Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Brown SP, Graff-Radford N, Uitti R, Dickson D, Wzsolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL, 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration Hum Mol Genet 2006 Oct 15

  • Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 Nature 2006 Aug 24

Julia Russo, MS, CGC

Clinical Genetic Counselor

JuliaRussoJulia joined the Greenwood Genetic Center team in July of 2017. She is based out of GGC's Greenville office, offering pediatric and adult genetic counseling to patients. Julia is a member of the National Society of Genetic Counselors and is certified by the American Board of Genetic Counseling.

Publications

  • Peng, C.A., Russo, J., Nelson, A., Lyda, T., Marcotte, W.R. (2016). Polyelectrolyte Fiber Assembly of Plant-Derived Spider Silk-like Proteins. Biomacromolecules.

  • Drew, E.T., Yang, Y., Russo, J.A., Campbell, M., Rackley, S. A., Hudson, J., Schumki, P., & Whitehead, D.C. (2013). Evaluation of nanostructured vanadium (V) oxide in catalytic oxidations. Catalyst Science and Technology.

Rini Pauly, MS

Bioinformatics Specialist

RiniPaulyRini Pauly is a Bioinformatics Specialist supporting biostatistics and bioinformatics analysis projects in the JC Self Research at Greenwood Genetics Center (GGC). She joined GGC in March 2015. Prior to her arrival she was a Bioinformatics Analyst at Winship Cancer Institute at Emory University for three years. Most recently, she is working on creating statistical models and computational algorithms for processing large volumes of genomic data efficiently.

Her current projects include development and implementation of NGS analysis pipelines for WGS, RNA-seq and Exome-Seq samples with Autism Spectrum Disorder (ASD) and Intellectual Disability (ID). She has also applied machine learning approaches for data processing and interpretation of Biolog© Phenotype Microarray data program by analyzing metabolic profiles of ASD patients and typically developing controls.

Selected Publications

  • Gene integrated set profile analysis: a context-based approach for inferring biological endpoints. Kowalski J, Dwivedi B, Newman S, Switchenko JM, Pauly R, Gutman DA, Arora J, Gandhi K, Ainslie K, Doho G, Qin Z, Moreno CS, Rossi MR, Vertino PM, Lonial S, Bernal-Mizrachi L, Boise LH. Nucleic Acids Res. 2016 Apr 20;44(7):e69. doi: 10.1093/nar/gkv1503.

  • Farewell to GBM-O: Genomic and transcriptomic profiling of glioblastoma with oligodendroglioma component reveals distinct molecular subgroups. Hinrichs BH, Newman S, Appin CL, Dunn W, Cooper L, Pauly R, Kowalski J, Rossi MR, Brat DJ. Acta Neuropathol Commun. 2016 Jan 13;4:4. doi:  0.1186/s40478-015-0270-7.

  • CHD7 expression predicts survival outcomes in patients with resected pancreatic cancer. Colbert LE, Petrova AV, Fisher SB, Pantazides BG, Madden MZ, Hardy CW, Warren MD, Pan Y, Nagaraju GP, Liu EA, Saka B, Hall WA, Shelton JW, Gandhi K, Pauly R, Kowalski J, Kooby DA, El-Rayes BF, Staley CA 3rd, Adsay NV, Curran WJ Jr, Landry JC, Maithel SK, Yu DS. Cancer Res. 2014 May 15;74(10):2677-87. doi: 10.1158/0008-5472.CAN-13-1996.

  • Exome Sequencing of African American Siblings with Activated, B-Cell Like Diffuse Large B-Cell Lymphoma. R Pauly, L Bernal-Mizrachi, MR Rossi, J Koff, B Dwivedi, DL Jaye, Blood 122 (21), 3014-3014.

  • Insect Innate Immunity Database (IIID): an annotation tool for identifying immune genes in insect genomes. Brucker RM, Funkhouser LJ, Setia S, Pauly R, Bordenstein SR. PLoS One. 2012;7(9):e45125. doi:10.1371/journal.pone.0045125.

 

 

 

Brooke Scott

Genetics Instructor

BrookeSnellingBrooke Scott joined GGC's Division of Education in 2017. She travels across SC providing hands-on genetic activities for middle and high school students through the Gene Machine Mobile Science Lab. She also works with school and community groups when they visit the Genetic Education Center in Greenwood providing lab acitivities and tours of the Center.

Timothy Fee, PhD

Staff Scientist

TimFeeDr. Fee came to the GGC in 2016 as a Staff Scientist in the Microarray Laboratory. His previous studies include synthesis and mechanics of biomaterials, image processing, tissue engineering scaffold characterization, and gene expression induced by the cellular substrate topology. At the GGC, he uses this engineering background to assist in microarray testing, data analysis, and procedural optimization. He is also involved in developing new diagnostic testing options based on Digital PCR technology.


Selected Publications

  • Fee, T., Surianarayanan, S., Downs, C., Zhou, Y., Berry, J. "Nanofiber Alignenment Regulates NIH3T3 Cell Orientation and Cytoskeletal Gene Expression on Electrospun PCL+Gelain Nanofibers." 2016, PLOS ONE. 11, e0154806.

  • Fee, T., Downs, C., Eberhardt, A., Zhou, Y., Berry, J. "Image Based Quantification of Fiber Alignment within Electrospun Tissue Engineering Scaffolds is Related to Mechanical Anisotropy." 2016, Journal of Biomedical Materials Research part A. 104, 1680.

  • Hwang, P., Lim, D., Fee, T., Alexander, G., Tambralli, A., Andukuri, A., Tian, L., Cui, W., Berry, J., Gilbert, S., Jun, H. "A Bio-Inspired Hybrid Nanosack for Graft Vascularization at the Omentum." 2016, Acta Biomaterialia. 41, 224.

  • Fee, T., Dean, D., Eberhardt, A., Berry, J. "A Novel Device to Quantify the Mechanical Properties of Electrospun Nanofibers." 2012, Journal of Biomechanical Engineering. 134, 104503-1.