Kubaski, Francyne

Staff Scientist

Kubaski, Francyne

Dr. Kubaski joined Greenwood Genetic Center as a staff scientist in the Biochemical Genetics Laboratory in 2021. Dr. Kubaski has been involved with research for inborn errors of metabolism (IEM), and most specifically lysosomal storage disorders (LSD), within the last 10 years and she has been working with the application of ultra-high performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) for diagnosis, treatment monitoring, and newborn screening of these disorders.
In the Biochemical Genetics laboratory, Dr. Kubaski will work with method development for a variety of metabolites that can be used for diagnosis, monitoring, and screening of our patients for these diseases by UPLC-MS/MS.

Contact Information

Office (864) 953-3985
Fax (864) 941-8133
[email protected]


  • B.S., Biomedical Sciences, IESA, 2010
  • Masters in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, 2012
  • Ph.D in Biological Sciences, Molecular Biology & Genetics, University of Delaware, 2017
  • Post-doctoral fellow, Molecular Biology & Genetics, Universidade Federal do Rio Grande do Sul, 2021


Dr. Kubaski was awarded the Young Investigator award in 2017 and 2019 by the Annual WORLDSymposium™. In 2017, she has also been awarded the Theodore Wolf Prize- Outstanding Dissertation in the Physical and Life Sciences (Animal and Food Sciences, Applied Physiology, Bioinformatics, Biological Sciences, Chemistry & Biochemistry, Climatology, Entomology & Wildlife Ecology, Geography, Geology, Marine Studies, Nursing Science, Oceanography, Plant & Soil Sciences and Physics) from the University of Delaware (Dissertation title: Diagnosis and therapies for Mucopolysaccharidoses). And in 2020, Dr. Kubaski was honored with the Jean Dussault Medal from the International Society for Neonatal Screening that recognizes outstanding young investigators who have made a significant contribution to neonatal or other population-based screening.

Selected Publications

  • Kubaski, F.; Burlina, A.; Polo, G.; Pereira, D.; Herbst, Z.M.; Silva, C.; Trapp, F.B.; Michelin-Tirelli, K.; Lopes, F.F.; Burin, M.G.; Brusius-Facchin, A.C.; Netto, A.B.O.; Faqueti, L.; Iop, G.D.; Poletto, E.; Giugliani, R. (2022) Experience of the NPC Brazil Network with a comprehensive program for the screening and diagnosis of Niemann-Pick disease type C. IJNS 8(39): 1-10.
  • Kubaski, F.; Burlina, A.; Pereira, D.; Silva, C.; Herbst, Z.H.; Trapp, F.B.; Michelin-Tirelli, K.; Lopes, F.F.; Burin, M.G.; Brusius-Facchin, A.C.; Netto, A.B.O.; Poletto. E.; Bernardes, T.M.; Carvalho, G.S.; Sorte, N.B.; Ferreira, F.N.; Perin, N.; Clivati, M.R.; de Santana, M.T.S.; Lobos, S.F.G.; Leao, E.K.E.A.; Coutinho, M.P.; Pinos, P.V.; Santos, M.L.S.F.; Penatti, D.A.; Lourenco, C.M.; Polo, G.; Giugliani, R. (2022) Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency. OJRD 17(407):1-7.
  • Gelb, M.H.; Basheeruddin, K.; Burlina, A.; Chen, H.C.; Chien, Y.H.; Dizikes, G.; Dorley, C.; Giugliani, R.; Hietala, A.; Hong, X.; Kao, S.M.; Khaledi, H.; Klug, T.; Kubaski, F.; Liao, H.C.; Martin, M.; Manning, A.; Orsini, J.; Peng, Y.; Ranieri, R.; Rohrwasser, A.; Szabo-Fresnais, N.; Turgeon, C.T.; Vaz, F.M.; Wang, L.Y.; Matern, D. (2022) Liquid chromatography-tandem mass spectrometry in newborn screening laboratories. IJNS 62 (8): 1-15.
  • Kubaski, F.; Herbst, Z.M.; Burin, M.G.; Michelin-Tirelli, K.; Trapp, F.B.; Gus, R.; Netto, A.B.O.; Brusius-Facchin, A.C.; Leistner-Segal, S.; Sanseverino, M.T.; Souza, C.M.F.; Wilke, M.V.M.B; Oliveira, T.; Magalhaes, J.A.A.; Giugliani, R. (2022) Measurement of sulfatides in the amniotic fluid supernatant: a useful tool in the prenatal diagnosis of metachromatic leukodystrophy. JIMDR 63(2): 162-167.
  • Kubaski, F.; Herbst, Z. M..; Pereira, D.A.A.; Silva, C.; Chen, C.; Hwu, P.W.L.; van der Linden, H.; Lourenço, C.M.; Giugliani, R. (2021) Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases. MGMR 27:1-4.
  • Kubaski, F.; Sousa, I.; Amorim, T.; Pereira, D.; Trometer, J.; Souza, A.; Ranieri, E.; Polo, G.; Burlina, A.; Brusius-Facchin, A.C.; Netto, A.B.O.; Tomatsu, S.; Giugliani, R. (2020) Neonatal Screening for MPS Disorders in Latin America: A survey of pilot initiatives. Int. J. Neonatal Screen 6,90:1-10.
  • Kubaski, F.; de Oliveira Poswar, F.; Michelin-Tirelli, K.; Graeff, M.B.; Málaga, D.R.; Brusius-Facchin, A.C.; Leistner-Segal, S.; Giugliani, R. (2020). Diagnosis of Mucopolysaccharidoses. Diagnostics 10(3), 162.
  • Schuh, R.; Gonzalez, E.; Tavares, A.; Seolin, B.; Elias, L.; Vera, L.P.; Kubaski, F.; Poletto, E.; Giugliani, R.; Matte, U.; Teixeira, H.; Baldo, G. (2020). Neonatal nonviral gene editing with the CRISPR/Cas9 system improves cardiovascular, respiratory, and bone disease in mucopolysaccharidosis I mice. Gene Therapy 27, (1-2):74-84.
  • Vairo, F.P.; Malaga, D.R.; Kubaski, F.; de Souza, C.F.M.; Poswar, F.O.; Baldo, G.; Giugliani, R. (2020). Precision medicine for lysosomal disorders. Biomolecules 10, 1110.
  • Giugliani, R.; Vairo, F.; Kubaski, F.; Poswar, F.; Riegel, M.; Baldo, G.; Saute, J.A. (2018). Neurological manifestations of lysosomal storage disorders and emerging therapies targeting the CNS. The lancet child and adol 2(1): 56-68.
  • Kubaski, F.; Yabe, H.; Suzuki, Y.; Seto, T.; Hamazaki, T.; Mason, R.W.; Xie, L.; Onsten, T.G.H.; Leistner-Segal, S.; Giugliani, R.; Dung, V.C.; Ngoc, C.T.B.; Yamaguchi, S.; Montaño, A.M.; Orii, K.E.; Fukao, T.; Shintaku, H.; Orii, T.; Tomatsu, S. (2017). Hematopoietic stem cell transplantation for patients with Mucopolysaccharidosis II. Biol. Blood Marrow Transplant 23(10): 1795-1803.
  • Kubaski, F.; Mason, R.W.; Nakatomi, A.; Shinatku, H.; Xie, L.; van Vlies, N.N.; Church, H.; Giugliani, R.; Kobayashi, H.; Yamaguchi, S.; Suzuki, Y.; Orii, T.; Fukao, T.; Montaño, A.M.; Tomatsu, S. (2016) Newborn screening for mucopolysaccharidosis: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry. J. Inherit. Metab. Dis. 40(1): 151-8.
  • Kubaski, F.; Osago, H.; Mason, R.W.; Yamaguchi, S.; Kobayashi, H.; Tsuchiya, M.; Orii, T.; Tomatsu, S. (2016) Glycosaminoglycans detection methods: applications of mass spectrometry. Mol. Genet. Metab. 120 (1-2): 67-77.
  • Kubaski, F.; Suzuki, Y.; Orii, K.; Giugliani, R.; Church, HJ.; Mason, RW.; Dũng, VC.; Ngoc CT.; Yamaguchi, S.; Kobayashi, H.; Girisha, KM.; Fukao, T.; Orii, T.; Tomatsu, S. (2016). Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. Mol. Genet. Metab. 120(3): 247-54.
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Meet Esther

Esther was referred to GGC around a year of age after her parents and pediatrician identified concerns with her development. She was diagnosed with Rett syndrome by Dr. David Everman of GGC's Greenville office. GGC is a Rett Syndrome Center of Excellence and has been caring for Esther ever since her diagnosis. Meet Esther, her family, and friends in this video from Special Books by Special Kids....

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