University of California San Francisco

Julie Saba, MD, PhD

Julie Saba, MD, PhD
Julie Saba, MD, PhD

Professor, Pediatrics

Address

5700 Martin Luther King Jr Way, #2122A
Oakland, CA 94609
United States

Email: [email protected]

Education

Institution Degree Dept or School End Date
University of California Diversity, Equity, and Inclusion Champion Training 10/2020
Duke University Ph.D. Biochemistry/Cell Biology 05/1996
Duke University Medical Center Pediatric Fellowship Hematology/Oncology 07/1993
Duke University Medical Center Residency Pediatrics 07/1989
Johns Hopkins University M.A. Creative Writing 05/1986
University of Maryland School of Medicine M.D. Medicine 05/1985
Johns Hopkins University B.S. Natural Sciences 05/1981

Awards & Honors

Award Conferred By Date
Eli Lilly Genetic Medicine Grand Challenge Winner Eli Lilly / Nucleate 2023
Nucleate Pillar Venture Prize Pillar VC / Nucleate 2023
Director, Swim Across America National Laboratory Children's Hospital and Research Center Oakland 2015
John and Edna Beck Chair in Pediatric Cancer Research Children's Hospital and Research Center Oakland 2012
American Society of Clinical Investigation member ASCI 2006

Clinical Trials

  1. Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) (NCT06669949)
    Related Conditions: SPLIS, Immunodeficiency, Primary Immunodeficiency Diseases, Charcot-Marie-Tooth Disease, Hypothyroidism| Start Date: | End Date:
  2. SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International) (NCT04885179)
    Related Conditions: Sphingolipidoses, Enzyme Deficiency, SPLIS| Start Date: | End Date:

Grants and Funding

  • Characterizing the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS): a fundamental step in the development of a targeted cure for this novel atypical sphingolipidosis | NIH | 2024-09-10 - 2029-06-30 | Role: Principal Investigator
  • Characterizing a novel mouse model linking sphingolipid metabolism to multi-organ fibrosis | NIH | 2025-07-15 - 2027-04-30 | Role: Principal Investigator
  • 2026 Glycolipid and Sphingolipid Biology Gordon Research Conference and Gordon Research Seminar | NIH | 2026-04-21 - 2027-03-31 | Role: Principal Investigator
  • Adeno-associated virus-mediated SGPL1 gene therapy as a first-in-class treatment for idiopathic pulmonary fibrosis that acts by reducing sphingosine-1-phosphate and downstream profibrotic signaling | NIH | 2024-09-06 - 2026-07-31 | Role: Principal Investigator
  • Proof-of-concept for the use of enzyme replacement therapy as a lifesaving treatment for sphingosine phosphate lyase insufficiency syndrome | NIH | 2024-08-01 - 2026-07-31 | Role: Principal Investigator
  • Validating absolute lymphocyte count and plasma sphingosine-1-phosphate as disease biomarkers of sphingosine phosphate lyase insufficiency syndrome in anticipation of a pyridoxine clinical trial | NIH | 2022-09-15 - 2024-08-31 | Role: Principal Investigator
  • Providing a cure for sphingosine phosphate lyase insufficiency syndrome (SPLIS) through adeno-associated viral mediated SGPL1 gene therapy | CIRM | 2022-04-01 - 2024-03-31 | Role: Principal Investigator
  • SPLIS Patient Finding | Catalyst Program (UCSF) | 2022-02-01 - 2023-02-06 | Role: Principal Investigator
  • Endogenous and Dietary Sphingolipids as Modulators in Inflammatory Bowel Disease | NIH | 2018-06-15 - 2022-05-31 | Role: Principal Investigator
  • S1P Lyase in colon cancer | NIH | 2007-07-01 - 2018-01-31 | Role: Principal Investigator
  • Agilent 6490 Triple Quadrupole Mass Spectrometer | NIH | 2014-06-01 - 2015-05-31 | Role: Principal Investigator
  • Sphingolipid Metabolism in Drosophila Development | NIH | 2003-09-01 - 2015-02-28 | Role: Principal Investigator
  • IVIS Spectrum small animal imaging system | NIH | 2013-06-15 - 2014-06-14 | Role: Principal Investigator
  • FASEB SRC on Lysophospholipd Mediators in Health and Disease | NIH | 2011-08-12 - 2012-08-11 | Role: Principal Investigator
  • Soy sphingadienes and related compounds in colon cancer chemoprevention and treat | NIH | 2009-09-01 - 2012-07-31 | Role: Principal Investigator
  • Endogenous sphingosine-1-phosphate as a radioprotector of intestinal tissues | NIH | 2007-09-01 - 2011-02-28 | Role: Principal Investigator
  • Sphingosine Phosphate:Regulation and Role in Cancer | NIH | 1998-09-01 - 2011-02-28 | Role: Principal Investigator
  • CERAMIDE MEDIATED SIGNAL TRANSDUCTION IN YEAST | NIH | 1993-07-01 - 1998-06-30 | Role: Principal Investigator

Publications

MOST RECENT PUBLICATIONS FROM A TOTAL OF 10
  1. Sphingosine 1-phosphate lyase expressed in pulmonary epithelial cells potentiates host innate defenses and alleviates influenza pathogenicity in mice.
    Jung KI, McKenna S, Jiang L, Huerter H, He Y, Xu D, Saba JD, Hahm B| | PubMed
  2. Pyridoxine supplementation confers protection against SGPL1R222Q variant sphingosine phosphate lyase insufficiency syndrome.
    Khan R, Allende ML, Khalid E, Lee JY, Stone E, Rodnick-Smith M, Izuhara A, Buncha V, Gyarmati G, Peti-Peterdi J, Al-Khaledy R, Hodgin JB, Tassew G, Oskouian B, Zhang R, Proia RL, Saba JD| | PubMed
  3. A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
    Beale HC, Tse V, Lee JY, Akutagawa J, Mavura Y, Saint-John B, Cheney A, Mulligan DR, Chacaltana G, Gutierrez M, Tenney J, Shieh JT, Martin PM, Yip T, Hodoglugil U, Fay AJ, Brooks AN, Van Ziffle J, Stone MD, Risch N, Sanford JR, Devine P, Saba JD, Vaske OM, Slavotinek A| | PubMed
  4. Redirection of sphingolipid metabolism drives cytoskeletal defects in SPLIS and reveals ROCK inhibition as therapy.
    Majcher A, Khan R, Buder K, Bourquin F, Saba JD, Hornemann T| | PubMed
  5. Age-dependent reference intervals for cerebrospinal fluid and urine biomarkers of mucopolysaccharidoses.
    Herber CB, Xiao S, Gho DS, Meyer AL, Tsogtbaatar B, Suh JH, Fang M, Huntwork-Rodriguez S, Model F, Ireton K, Zhu Y, Saba JD, White KL, Bhalla A| | PubMed
  6. Tweaking the Complex Fibrogenic Role of Lymphocytes in Idiopathic Pulmonary Fibrosis.
    Bhattacharyya A, Saba JD| | PubMed
  7. Super-enhancer profiling reveals ThPOK/ZBTB7B, a CD4+ cell lineage commitment factor, as a master regulator that restricts breast cancer cells to a luminal non-migratory phenotype.
    Arcuschin CD, Kahrizi K, Sayaman RW, DiBenedetto C, Salaberry PJ, Pirker R, Shen Y, Zakraoui O, Schwarzer C, Scapozza A, Caruso JA, Betancur P, Saba JD, Coppé JP, Barcellos-Hoff MH, Kappes D, van 't Veer L, Schor IE, Muñoz DP| | PubMed
  8. BDNF Mitigates Early Oxidative Stress and Promotes Release of Neuroprotective Mitochondria From Striatal Astrocytes of zQ175 Huntington's Disease Mice.
    López Couselo F, Saba J, Friser Frederiksen M, Palmieri M, Romero AC, Bigi MM, Carniglia L, Durand D, Lasaga M, Caruso C| | PubMed
  9. Cell-Specific Evaluation of AAV9-Mediated SGPL1 Gene Delivery in a Sgpl1-/- Mouse Model with Nephrotic Syndrome.
    Kraisoon Lomjansook, Gijs AC Franken, Katharina Lemberg, Ken Saida, Daniel Marchuk, Elena Zion, Chiranth M Prakash, Korbinian M. Riedhammer, Becca Nelson, Florian Buerger, Julie D. Saba, Friedhelm Hildebrandt| | UCSF Research Profile
  10. A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
    Beale HC, Tse V, Lee JY, Akutagawa J, Mavura Y, Saint-John B, Cheney A, Mulligan DR, Chacaltana G, Gutierrez M, Tenney J, Shieh JT, Martin PM, Yip T, Hodoglugil U, Fay AJ, Brooks AN, Van Ziffle J, Stone MD, Risch N, Sanford JR, Devine P, Saba JD, Vaske OM, Slavotinek A| | PubMed