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5700 Martin Luther King Jr. WayOakland, CA 94609
Phone+1 510-414-6317
Dr. Saba is on Doximity
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Education & Training
- University of Maryland School of MedicineClass of 1985, MD
Certifications & Licensure
- CA State Medical License 1999 - 2027
- NC State Medical License 1989 - 1998
- American Board of Pediatrics Pediatric Hematology-Oncology
Clinical Trials
- SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International) Start of enrollment: 2020 Jun 30
Roles: Contact, Principal Investigator
Publications & Presentations
PubMed
- A novel splice site variant inleads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.Holly C Beale, Victor Tse, Joanna Y Lee, Jon Akutagawa, Yusuph Mavura
Medrxiv. 2025-04-11 - Sphingosine phosphate lyase insufficiency syndrome as a primary immunodeficiency state.Saber Gharagozlou, NicolaA M Wright, Luis Murguia-Favela, Juliette Eshleman, Julian Midgley
Advances in Biological Regulation. 2024-12-01 - 2 citationsFactors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.Nancy Keller, Julian Midgley, Ehtesham Khalid, Harry Lesmana, Georgie Mathew
Orphanet Journal of Rare Diseases. 2024-09-27
Press Mentions
- Newly Discovered Role of AF1q in NeuroblastomaMarch 5th, 2024
- New Paediatric Cancer Marker, New Hope for a Treatment TargetMarch 5th, 2024
Grant Support
- 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 sphingolipidosisUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2029
- 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 sphingolipidosisUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2029
- 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 sphingolipidosisUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2029
- 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 sphingolipidosisUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2029
- 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 sphingolipidosisUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2029
- Proof-of-concept for the use of enzyme replacement therapy as a lifesaving treatment for sphingosine phosphate lyase insufficiency syndromeUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- Proof-of-concept for the use of enzyme replacement therapy as a lifesaving treatment for sphingosine phosphate lyase insufficiency syndromeUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- 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 signalingUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- 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 signalingUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- Proof-of-concept for the use of enzyme replacement therapy as a lifesaving treatment for sphingosine phosphate lyase insufficiency syndromeUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- 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 signalingUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- 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 signalingUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- 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 signalingUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- 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 signalingUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- Proof-of-concept for the use of enzyme replacement therapy as a lifesaving treatment for sphingosine phosphate lyase insufficiency syndromeUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- 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 signalingUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- 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 signalingUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- 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 signalingUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2024–2026
- Validating absolute lymphocyte count and plasma sphingosine-1-phosphate as disease biomarkers of sphingosine phosphate lyase insufficiency syndrome in anticipation of a pyridoxine clinical trialUNIVERSITY OF CALIFORNIA, SAN FRANCISCO2022–2025
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