Cheryl Garganta, MD, PhD
Unit Director:Metabolics Laboratory
- Biochemical genetics
- Biochemical markers of disease
- 1995: Ph.D., human genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond, Virginia; Thesis: Biochemical studies of mammalian lipoamidase activity; Advisor: Barry Wolf, M.D., Ph.D.
- 1991: M.D., Medical College of Virginia/Virginia Commonwealth University, Richmond, Virginia.
1983: Master of Science, biochemistry, Medical College of Virginia/Virginia Commonwealth University, Richmond, Virginia
- Thesis: Characterization of the deficiency of a metalloendopeptidase from murine kidney
- Advisor: Judith Bond, Ph.D
1981: Bachelor of Arts, chemistry, Wheaton College, Norton, Massachusetts
- Thesis: Phase transfer catalysis and ultrasound- an effective combination for the preparation and addition of dichlorocarbene to a Δ5 steroid
- Advisor: Bojan Jennings
- 1998 - 2001: Residency, clinical and biochemical genetics, Yale University, New Haven, Connecticut.
- 1991 - 94: Internship and residency, pediatrics, Medical College of Virginia/Virginia Commonwealth University, Richmond, Virginia
- 2014 - Present: Associate professor, University of Florida Department of Pathology, Immunology and Laboratory Medicine, Gainesville Florida
- 2011 - 14: Assistant professor, Tufts Medical Center Department of Pathology and Laboratory Medicine, Boston, Massachusetts
- 2005 - 14: Clinical geneticist, Tufts Medical Center, Boston, Massachusetts
- 2005 - 14: Assistant professor, pediatrics, Tufts University School of Medicine, Boston, Massachusetts
- 2005 - 14: Director, metabolic laboratory, Tufts Medical Center, Boston, Massachusetts
- 2002 - 04: Assistant professor, Yale University Department of Genetics, New Haven, Connecticut
- 2001 - 04: Director, Biochemical Disease Detection Laboratory (BDDL), Yale University Department of Genetics, New Haven, Connecticut
- 2001 - 02: Instructor, Yale University Department of Genetics, New Haven, Connecticut
- 2014 - Present: Pathology and pediatrics, University of Florida, Gainesville, Florida
- 2006 - 15: Attending in pathology, Tufts Medical Center, Boston, Massachusetts
- 2005 - 14: Attending in pediatrics, Tufts Medical Center, Boston, Massachusetts
- 2001 - 04: Attending in pediatrics, Yale-New Haven Hospital, New Haven, Connecticut
- 1995 - 98: Pediatrician, Western Massachusetts Pediatrics, Holyoke, Massachusetts
- 1994 - 95: House pediatrician, Children's Hospital, Richmond, Virginia
- 1993 - 95: House Pediatrician, St. Mary's Hospital, Richmond, Virginia
- 2012: Basics of chromatography, Pathology Rounds, Tufts Medical Center, Boston, Massachusetts
- 2012: Research preceptor for four high school students, Tufts School of Medicine Teachers and High School Students, Boston, Massachusetts
- 2012: –omics series of three lectures, Pathology Rounds, Tufts Medical Center, Boston, Massachusetts
- 2011: Mass spectrometry basics, newborn screening, pathology rounds, Tufts Medical Center, Boston, Massachusetts
- 2010 - 14 (three times/month): Scientific writing workshops and discussion of topics related to mass spectrometry, inborn errors of metabolism (IEMs), testing for IEMs and molecular genetics testing with pathology residents, Tufts Medical Center, Boston, Massachusetts
- 2010 - 12 (monthly): Discuss coagulation and hemoglobinopathy testing with pathology residents, Tufts Medical Center, Boston, Massachusetts
- 2010: Chromatography in the clinical lab; specialized metabolic testing; pathology rounds
- 2009: Chromatography and mass spectrometry in the clinical lab, specialized testing for metabolic disease. pathology rounds
- 2008: Research preceptor for two high school students, Tufts School of Medicine Teachers and High School Students
- 2008: Preceptor, Tufts School of Medicine first year medical student, metabolic laboratory
- 2007 - 08: Preceptor, medical technologist from Saudi Arabia learning techniques used in biochemical genetics laboratory
- 2007 - 09: Clinical receptor, Boston University genetic counseling students
- 2007: "Metabolic Emergencies,” lecture for pediatrics residents, Tufts Medical Center, Boston, Massachusetts
- 2007: Research preceptor for two high school students, Tufts School of Medicine Teachers and High School Students
- 2007: Clinical preceptor, first-year medical student, Tufts School of Medicine
- 2006 - 07: Preceptor, Boston University genetic counseling students
- 2006: Research preceptor for two high school students, Tufts School of Medicine Teachers and High School Students
- 2005: Teaching attending in pediatrics, Tufts-New England Medical Center, Boston, Massachusetts
- 2003: Advisor for minority undergraduate students doing research in my laboratory
- 2003: Co-instructor for human molecular genetics, gave seven lectures including non-Mendelian genetics, population genetics, epigenetic phenomena and methods for studying gene function
- 2002: Co-instructor for human molecular genetics, gave seven lectures including non-Mendelian genetics and genetics of hearing loss, repeat expansion conditions and skeletal dysplasias
- 2001 - 04: Multiple lectures given to genetics residents and at off-site clinics to pediatricians, obstetricians and obstetrics residents on a variety of genetic topics
- 1999 - 2004: Lecturer (non-Mendelian genetics) and small group leader for medical genetics course for second-year medical students at Yale School of Medicine, New Haven, Connecticut
- Florida, unrestricted license ME120970
- Massachusetts, unrestricted license 80976 (expired 8/2015)
- American Board of Medical Genetics (2002035), clinical geneticist and clinical biochemical geneticist, September 2002, recertified 2012, expires December 2022; participant in MOC
- American Board of Pediatrics (053335), October 1994; recertified January 2002 (expired 2008)
- Diplomate of the National Board of Medical Examiners, July 1992
Membership in Professional Organizations
- American Society of Human Genetics
- Society for Inherited Metabolic Disorders
- Society for the Study of Inherited Metabolic Disease
- American Association of Clinical Chemists
Other Professional Activities
- Observer, CLSI Newborn Screening by Tandem Mass Spectrometry; (I/LA32-A), July 2010. Wrote chapter 17 (Additional Assays); active participant in document editing
- Invited speaker, CPSA Metabolomics, February 2015, Gainesville, Florida, Metabolic Disease Testing: More than Organic and Amino Acids, Acylcarnitines and Inborn Error
- Jennings BJ, Boudreau SM, Braasch B, and Garganta CL. 5α, 6α- and 5β, 6β-dichloromethylene adducts of 3β-acetoxy-androsten-17-one. Steroids 39(1982) 371-380.
- Jones LA, Kirby SL, Garganta CL, Gerig TM, and Mulik JD. Optimization of separation number in gas chromatography with fused silica capillary columns under temperature programmed conditions. Analytical Chemistry 55(1983) 1354-1360.
- Garganta CL, Hazelett J, and Shaw JM. Synthesis of a photoactivable phospholipid containing an aromatic sulfonylazide and its interaction with proteins. Biochimica et Biophysica Acta 812(1985) 261-267.
- McKay MJ, Garganta CL, Beynon RJ, and Bond JS. Deficiency of a mouse kidney metalloendopeptidase activity: immunological demonstration of an altered gene product. Biochemical and Biophysical Research Communications 132(1985) 171-177.
- Garganta CL and Bond JS. Assay and kinetics of arginase. Analytical Biochemistry 154(1986) 388-394.
- Garganta CL and Wolf B. Lipoamidase activity in human serum is due to biotinidase. Clinica Chimica Acta 189(1990) 313-326.
- Garganta CL and Bodurtha JN. Report of another family with Simpson-Golabi-Behmel Syndrome and a review of the literature. American Journal of Medical Genetics 44(1990) 129-135.
- Garganta CL and Wolf B. A colorimetric assay of lipoyl-lysine hydrolase activity using 2,6-dibromoquinone-4-chlorimide. Analytical Biochemistry, 240(1996)177-184.
- Garganta C and Seashore MR. Universal screening for congenital hearing loss. Pediatric Annals. 29(2000)302-308.
- Mudd SH, Braverman N, Pomper M, Tezcan K, Kronick J, Jayakar P, Garganta C, Ampola MG, Levy HL, McCandless SE, Wiltse H, Stabler SP, Allen RH, Wagner C, Borschel MW. Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Molecular Genetics and Metabolism 79 (2003)6-16.
- Murakami T, Fukai K, Oiso N, Hosomi N, Kato A, Garganta C, Barnicoat A, Poppelaars F, Aquaron R, Paller AS, Ishii M. New KIT mutations in patients with piebaldism. Journal of Dermatological Science 35 (2004)29-33.
- Bolteus AJ, Garganta C, Bordey A. Assays for measuring extracellular GABA levels and cell migration rate in acute slices. Brain Research Protocols 14(2005)126-134.
- Garganta CL and Smith WE. Metabolic Evaluation of the Sick Neonate. Seminars in Perinatology 29(2005)164-172.
- Tailor P, Raman T, Garganta CL, Njalsson R, Carlsson K, Ristoff E, and Carey HB. Recurrent High Anion Gap Metabolic Acidosis Secondary to 5-Oxoproline (Pyroglutamic Acid). American Journal of Kidney Diseases 46(2005)E4-10.
- Grindle S, Garganta C, Sheehan S, Gile J, Lapierre A, Whitmore H, Paigen B, DiPetrillo K. Validation of high-throughput methods for measuring blood urea nitrogen and urinary albumin concentrations in mice. Comp Med. 2006 Dec;56(6):482-6.
- Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Molecular Genetics & Metabolism 93(2008)363-370.
- Dericioglu N, Garganta CL, Petroff OA, Mendelsohn D, Williamson A. Blockade of GABA synthesis only affects neural excitability under activated conditions in rat hippocampal slices. Neurochem Int. 53(2008):22-32. doi: 10.1016/j.neuint.2008.04.006
- Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 96(2009)85-90. doi: 10.1016/j.ymgme.2008.09.008
- Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2010 Aug;32(7):550-5. Epub 2009 Sep 13.
- Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration. Clinical genetic testing for patients with autisom spectrum disorders. Pediatrics. 2010 Apr;125(4):e727-35. Epub 2010 Mar 15. doi: 10.1542/peds.2009-1684
- Kronn D, Mofidi S, Braverman N, Harris K, Diagnostics Guidelines Work Group. Diagnostic guidelines for newborns who screen positive in newborn screening. Genet Med 2010 Dec:12(12 Suppl):S251-5. doi: 10.1097/GIM.0b013e3181fe5d8b
- Pittas AG, Nelson J, Mitri J, Hillmann W, Garganta C, Nathan DM, Hu FB, Dawson-Hughes B, Dpp Research Group. Plasma 25-Hydroxyvitamin D and Progression to Diabetes in Patients at Risk for Diabetes. Diabetes Care 2012 35:565-573. doi: 10.2337/dc11-1795
- Mitri J, Nelson J, Ruthazer R, Garganta C, Nathan DM, Hu FB, Dawson-Hughes B, Pittas AG, Diabetes Prevention Program Research Group. Plasma 25-hydroxyvitamin D and risk of metabolic syndrome: an ancillary analysis in the Diabetes Prevention Program. Eur J Clin Nutr 2014 Mar;68(3):376-83. doi: 10.1038/ejcn.2013.293
- Sahai I, Garganta CL, Bailey J, James P, Levy HL, Martin M, Neilan E, Phornphutkul C, Sweetser DA, Zytkovicz TH, Eaton RB. Newborn screening for Glutaric Aciduria-II: The New England experience. JIMD Rep 2014;13:1-14. doi:10.1007/8904_2013_262
- Alroy J, Garganta C, Wiederschain G. Secondary biochemical and morphological consequences in lysosomal storage diseases. Biochemistry (Mosc). 2014 Jul;79(7):619-36. doi: 10.1134/S0006297914070049
- Zhang FF, Driban JB, Lo GH, Price LL, Booth S, Eaton CB, Lu B, Nevitt M, Jackson B, Garganta C, Hochberg MC, Kwoh K, McAlindon TE. Vitamin D deficiency is associated with progression of knee osteoarthritis. J Nutr. 2014 Dec;144(12):2002-8. doi: 10.3945/jn.114.193227. Epub 2014 Oct 1
- Bond JS, Unger DF, and Garganta CL. "Properties and regulation of mouse liver arginase" in Manganese in Metabolism and Enzyme Function. Ed. Schramm VL and Wedler FC. 1986, 236-257. ISBN 978-0-12-629050-9.
- Garganta CL. “Inborn Errors of Metabolism” in Contemporary Practice in Clinical Chemistry. Ed. William Clarke and D. Robert Dufour. 2006 and 2010 editions.
- Bond JS, Garganta CL, Bellingham DL, Beynon RJ. Deficiency of a kidney metalloendoproteinase in mice. Fed Proc 42(1983)1915.
- Garganta CL and Carpenter TO. Cellular localization of PHEX using green fluorescent protein. Journal of Bone and Mineral Research 15(2000)S211.
- Garganta CL, Seashore MR, Rosengren SS, Tezcan K. Branched chain ketoaciduria in respiratory chain disorders (RCDs). Presented at SIMD meeting, March 2001.
- Gillis LA, Rand EB, Russo P, Hirsch B, Garganta CL, Tanguay RM, Berry GT. Hepatocellular carcinoma with vascular extension at presentation in a child with atypical tyrosinemia. Presented by LA Gillis at Society of Inherited Metabolic Diseases (SIMD) meeting, March 2002.
- Williamson A, Garganta CL, Petroff OA. Disruptions in glutamate-glutamine cycling alter GABA function. Epilepsia 45(2004) supp 7:360.
- Garganta CL and Czyzyk DJ. Separation and quantification of branched chain amino acids by LC/MS/MS. American Journal of Human Genetics 75(2004)supp.
- Petroff OA, Cavus I, Garganta CL, Vives KP, Spencer DD. Glutamine synthesis is impaired in regions with above normal extracellular glutamate levels. American Epilepsy Society meeting, 2007.
- Pittas AG, Nelson J, Mitri J, Hillman W, Garganta C, Nathan DM, Hu FG, Dawson-Hughes B and the Diabetes Prevention Program Research Group. Vitamin D status and progression to diabetes in patients at risk for diabetes: an ancillary analysis in the Diabetes Prevention Program randomized controlled trial. Diabetes 2011:(Suppl 1):117-OR.
- O’Brien JJ, Cassalman CL, Johnson S, Hunter R, Pilichowska M, Garganta C. Further Evaluation of False Positive Hexagonal Phase Phospholipid Assays Due to Elevated C-Reactive Protein. Presented by CL Cassalman at ASCP meeting 11-2012.
- Abbott MA, Berry G, Garganta C, Newton S, Spence S, Sullivan J. Phenotypical variability in brothers with HSD10 disease. Poster presented by MA Abbott at American College of Medical Genetics meeting, March 2013.