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Sally P. Stabler, M.D.


Sally P Stabler, MD
Sally P. Stabler, MD
University of Colorado School of Medicine
  • Professor of Medicine with Tenure
  • Cleo Scott and Mitchell Vincent Allen Endowed Professor in Hematology
  • Former Co-Head Division of Hematology

 

 

 

Major Scientific Interest: 

Cobalamin, folate, homocysteine and inborn errors of methionine metabolism

 

Major Clinical Interest: 

Anemia, cytopenias, chronic leukemias, myeloproliferative diseases, congenital bleeding disorders

 

 

Hematology Research Administration
Contact Information

12700 East 19th Avenue
Room 9122
RC 2 / MS B170
Aurora, CO  80045

 
(303)-724-4086 - Phone

Sally.Stabler@ucdenver.edu


  

Dr. Stabler completed her bachelor’s degree at Earlham College, Richmond, Indiana followed by medical school at Baylor College of Medicine in Houston, Texas.  She completed Internal Medicine Internship and Residency in Houston at Baylor Affiliated Hospitals and then moved to Denver for a Fellowship in Hematology and Medical Oncology.  After one year as a clinical fellow she pursued three years as a research fellow partially funded by the award of an individual fellowship from the NIH.  In 1984 she was appointed Instructor in Medicine, Division of Hematology and also became the Adult Hemophilia Care Coordinator for the Mountain States Regional Hemophilia and Thrombosis Program.  Further promotions followed to Assistant Professor in 1986; Associate Professor with award of Tenure in 1992 and she became the Co-Division Head of Hematology in 1998, which from which she has recently stepped down in 2013.  She was promoted to Professor in 2005, and received an Endowed Chair.  She has had an NIH and endowment-funded research laboratory during the last 30 years. She is the co-inventor on nine patents dealing with diagnosis and treatment of folate and vitamin B12 deficiency.  She has been an invited expert and/or speaker for many national workshops and panels pertaining to folic acid and vitamin B12 nutrition policy and measurement of relevant metabolites.  She is the author of more than 200 peer-reviewed manuscripts, book chapters and review articles. Most recently she published a Clinical Practice article in the New England Journal of Medicine on vitamin B12 deficiency.  She plays an active role in the combined Hematology – Oncology Fellowship Program including the selection, evaluation, didactic and supervisory teaching of 10-12 fellows.  She helped in the design of the new first year medical student curriculum and teaches them on the pathophysiology of hematologic disorders in lectures and small group sessions. She has mentored PhD students and Post-Doc fellows in successful research collaborations resulting in numerous publications both at the University of Colorado and at other institutions. She has a long association with the Mountain States Hemophilia and Thrombosis Center and oversees the care of all of the adult hemophilia patients in a four-state region.  She is a member of the Western Society of Clinical Investigation and the American Society of Hematology. She is the past chairman of the Institutional Animal Care and Use Committee for the University of Colorado, and serves on the Vice Chancellor’s Advisory Committee.  She is the current Chair of the Post-Tenure Review Committee for the Department of Medicine. 

 

 

Download Curriculum Vitae:  Sally P. Stabler, M.D. Curriculum Vitae.pdfSally P. Stabler, M.D. Curriculum Vitae.pdf

 

Medical School:  Baylor College of Medicine, Houston, Texas

 
 

Postgraduate Training:

 

1978-1979       Intern in Medicine, Baylor Affiliated Hospitals, Houston, Texas

 

1979-1981          Junior & Senior Resident, Baylor Affiliated Hospitals, Houston, Texas

 

1981-1982       Clinical Fellow in Hematology/Oncology, University of Colorado School of Medicine, Denver, Colorado

 

1982-1984       Research Fellow in Hematology/Oncology, University of Colorado School of Medicine, Denver, Colorado

 
 
 
Board Certification:
 
1982 - Internal Medicine
1983 - Oncology
1984 - Hematology
 
 
 
Licensure:
 
1978 - Texas (Inactive)
1983 - Colorado
1993 - Montana
 
 
 

 

Past and Current Professional Positions:

 

1984-1985       Instructor in Medicine, Division of Hematology, University of Colorado School of Medicine, Denver, Colorado

 

1984-Present   Adult Hemophilia Care Coordinator for Mountain States Regional Hemophilia Program

 

1986-1992       Assistant Professor of Medicine, University of Colorado School of Medicine, Denver, Colorado

 

1992-1998       Associate Professor of Medicine, University of Colorado School of Medicine, Denver, Colorado

 

1998-2013       Co-Division Head, Division of Hematology, University of Colorado School of Medicine, Denver, Colorado

 

2000-Present   Professor of Medicine, University of Colorado School of Medicine, Denver, Colorado

 

2004 -            Cleo Scott & Mitchell Vincent Allen Endowed Chair in Hematology Research

Dr. Stabler began her research career in the laboratory of Robert H. Allen, M.D. at the University of Colorado Medical School studying enzymes in vitamin B12-dependent pathways.  Together they made the discoveries that homocysteine was a sensitive and specific marker of both vitamin B12  and folate deficiency and that methylmalonic acid elevations could be used to distinguish between the two deficiencies.  Over the past three-decades, Drs. Stabler has pursued most aspects of folate, vitamins B12 and B6 and methionine metabolism in the laboratory and in clinical studies.  The highly sensitive and specific stable isotope dilution gas chromatography/mass spectrometry assays developed in the hematology laboratories have been used to study animal models of vitamin deficiency, genetic knock-outs or perturbed metabolism as well as large cohorts of patients studied in collaboration with many national and even international groups. Use of these assays have shown that the serum vitamin levels are much less sensitive and specific than widely recognized, and that the pattern of clinical abnormalities in B12 deficiency is broader than expected.  She has also developed sensitive and specific liquid chromatography/mass spectrometry assays for S-adenosylhomocysteine and S-adenosylmethionine and studied these in both animal and human models of perturbed vitamin metabolism. Her studies of methionine metabolism have ranged from stroke, markers of frailty and cognition in seniors, O2 induced lung damage, inflammatory bowel disease, vascular diseases, effects of homocysteine-lowering agents and cancer susceptibility in large cohorts, to name a few.  She demonstrated that large doses of commonly used supplements such as alpha-lipoic acid caused rapid depletion of S-adenosylmethionine and increases in S-adenosylhomocysteine, the inhibitor of many important methylation reactions.  Dr. Stabler had a long-standing collaboration with S. Harvey Mudd of the NIH until his passing in 2014.  During this 15-year collaboration she used her panel of methionine metabolites to help pinpoint the abnormalities in known inborn errors of methionine metabolism but also helped describe two other new disorders; glycine N-methyltransferase deficiency and S-adenosylhomocysteine hydrolase deficiency.  The pattern of methionine-related metabolites was also demonstrated in more common disorders such as methionine adenosyl-transferase deficiency, cystathionine-beta synthase deficiency, cystathionase deficiency and in disorders not directly related to methionine metabolism such as DGUOK and other mitochondrial DNA deficiency disorders.  Dr. Stabler has participated in the diagnosis and follow-up of many patients with inborn errors of folate, vitamin B12 and methionine metabolism through direct measurement of the relative metabolites in patient samples and providing interpretations on baseline and follow-up samples.  Many of these lab assays are not available as diagnostic tests and the clinicians in metabolic clinics approach her directly for help in diagnosis.  Dr. Stabler has recently developed a stable isotope assay for 2-hydroxy-glutarate, a metabolite that can be used as a marker of IDH mutations commonly found in malignant disease.  She is currently collaborating with researchers in the Heme Malignancies Program to determine whether such assays would be a sensitive marker of the presence of a mutation and the subsequent response to treatment of the malignancy. 

Selected from 178 Peer-Reviewed Publications and 15 Book Chapters

 

  1. Yan J, Jiang X, West AA, Perry CA, Malysheva OV, Brenna JT, Stabler SP, Allen RH, Gregory JF 3rd, Caudill MA.  Pregnancy alters choline dynamics: results of a randomized trial using stable isotope methodology in pregnant and nonpregnant women.  Am J Clin Nutr 98:1459-1467, 2013.  (PMID: 24132975).
  2. Stabler SP.  Clinical practice. Vitamin B12 deficiency.  N Engl J Med 368:149-160, 2013. (PMID: 23301732).
  3. Davey A, Dai T, Woodard JL, Miller LS, Gondo Y, Johnson MA, Hausman DB, Martin P, Green RC, Allen RH, Stabler SP, Poon LW; Georgia Centenarian. Profiles of cognitive functioning in a population-based sample of centenarians using factor mixture analysis.  Exp Aging Res 39:125-144, 2013. (PMID: 23421635).
  4. Stabler SP, Korson M, Jethva R, Allen RH, Kraus JP, Spector EB, Wagner C, Mudd SH.  Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.  JIMD Rep 11:149-163, 2013. (PMID: 23733603).
  5. Jiang H, Stabler SP, Allen RH, Maclean KN. Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes. Mol Genet Metab 107:55-65, 2012. (PMID: 22633282).
  6. Maclean KN, Jiang H, Greiner LS, Allen RH, Stabler SP.  Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk.  Mol Genet Metab 105:395-403, 2012.  (PMID: 22192524).
  7. Stabler SP, Sekhar J, Allen RH, O'Neill HC, White CW.  Alpha-lipoic acid induces elevated S-adenosylhomocysteine and depletes S-adenosylmethionine.  Free Radic Biol Med 47:1147-1153, 2009. (PMID: 19616616).
  8. Allen RH, Stabler SP. Identification and quantitation of cobalamin and cobalamin analogues in human feces.  Am J Clin Nutr 87:1324-1335, 2008. (PMID: 18469256).
  9. Guerra-Shinohara EM, Morita OE, Pagliusi RA, Blaia-d'Avila VL, Allen RH, Stabler SP.  Elevated serum S-adenosylhomocysteine in cobalamin-deficient megaloblastic anemia.  Metabolism 56:339-347, 2007. (PMID: 17292722).
  10. Stabler SP, Allen RH, Dolce ET, Johnson MA. Elevated serum S-adenosylhomocysteine in cobalamin-deficient elderly and response to treatment.  Am J Clin Nutr 84:1422-1429, 2006. (PMID: 17158426).
  11. Stabler SP, Allen RH. Vitamin B12 deficiency as a worldwide problem. Annu Rev Nutr 24:299-326, 2004. PubMed (PMID: 15189123).
  12. Antony A, Tang YS, Khan RA, Biju MP, Xiao X, Li QJ, Sun XL, Jayaram HN, Stabler SP. Translational upregulation of folate receptors is mediated by homocysteine via RNA-heterogeneous nuclear ribonucleoprotein E1 interactions.  J Clin Invest 113:285-301, 2004. (PMID: 14722620).
  13. Stabler SP. Vitamins, homocysteine, and cognition. Am J Clin Nutr 78:359-360, 2003 (PMID: 12936915).
  14. Stabler SP, Steegborn C, Wahl MC, Oliveriusova J, Kraus JP, Allen RH, Wagner C, Mudd SH. Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency.  Metabolism 51:981-8, 2002. (PMID: 12145770).
  15. Savage DG, Lindenbaum J, Stabler SP, Allen RH. Sensitivity of serum methylmalonic acid and total homocysteine determinations for diagnosing cobalamin and folate deficiencies.  Am J Med 96:239-246, 1994. (PMID: 8154512).
  16. Allen RH, Stabler SP, Savage DG, Lindenbaum J. Elevation of 2-methylcitric acid I and II levels in serum, urine, and cerebrospinal fluid of patients with cobalamin deficiency. Metabolism 42:978-988, 1993. (PMID: 8345822).
  17. Stabler SP, Lindenbaum J, Savage DG, Allen RH. Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood 81:3404-3413, 1993. (PMID: 8507876).
  18. Stabler SP, Marcell PD, Podell ER, Allen RH, Savage DG, Lindenbaum J. Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry.  J Clin Invest 81:466-474, 1988. (PMID: 3339129).
  19. Stabler SP, Marcell PD, Podell ER, Allen RH. Quantitation of total homocysteine, total cysteine, and methionine in normal serum and urine using capillary gas chromatography-mass spectrometry. Anal Biochem 162:185-196, 1987. (PMID: 3605587).
  20. Stabler SP, Marcell PD, Podell ER, Allen RH, Lindenbaum J. Assay of methylmalonic acid in the serum of patients with cobalamin deficiency using capillary gas chromatography-mass spectrometry.  J Clin Invest 77:1606-1612, 1986. (PMID: 3700655).

  21. Stabler SP and Allen RH. Megaloblastic Anemias. In Cecil Textbook of Medicine, 22ndEdition, L Goldman and D Ausiello (Eds.), WB Saunders Company, Philadelphia, PA, 2004, p. 1050-1057.

  22. Present Knowledge in Nutrition, International Life Sciences Institute, 9thed., 2010 (Major Re-write).