Areeg Hassan El-Gharbawy
Associate Professor of Pediatrics
I am an Associate Professor in the Department of Pediatrics, Division of Medical Genetics at Duke University; pursuing a career in clinical/translational research with 70% protected time for research. My clinical background is broad encompassing residency and fellowship training in internal medicine, endocrinology, diabetes, nutrition, metabolism, and clinical and biochemical genetics. This uniquely positioned me to evaluate and study pediatric and adult patients with inborn errors of metabolism, mitochondrial disorders, and lysosomal storage diseases. I transitioned from clinical medicine to a career in translational research to address the needs of patients with rare inherited metabolic disorders due to the paucity of therapies and biomarkers. My strength comes from my experience in managing patients with different inborn errors of metabolism and optimizing their treatment based on their underlying clinical, molecular, and biochemical phenotypes. In the era of precision medicine and big data analysis, my aim is to utilize my clinical skills and available tools at Duke University to conduct studies with implications for new drug, mechanism, and biomarker discovery. Studies are and will be conducted at Duke clinical research center in collaboration with clinical and basic scientists including Priya Kishnani, MD, Dwight Koeberl MD, Ph.D., and Karl-Dimiter Bissig MD, Ph.D. who are well established and funded clinical and basic science investigators at Duke. This collaboration allows me to integrate clinical data generated from natural history studies, with result from animal models, and metabolomics. This has implications for discovering innovative therapies, mechanisms, and biomarkers that serve and optimize patient care. I am currently analyzing metabolomics data on patients with Glycogen storage diseases and new therapeutics. I hold an IND on a PI initiated (industry-funded) clinical trial (pilot study) for using triheptanoin an anaplerotic compound that promotes energy through the Krebs cycle in patients with glycogen storage disease type 1.
Current Research Interests
Glycogen Storage diseases type I, III, IV
Fabry disease
Severe Infantile Liver Failure Syndrome Type 1 caused by mutations in Leucine-tRNA Synthetase
Glutaric aciduria type 1
Fatty acid oxidation defects and Barth syndrome
Areas of interest
Novel therapies for genetic disorders
Metabolomics and biomarkers
Current Appointments & Affiliations
- Associate Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2021
Contact Information
- Gsrb1, 4th Floor, 905 S. Lasa, Box 103856, Durham, NC 27710
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areeg.el-gharbawy@duke.edu
(919) 681-9873
- Background
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Education, Training, & Certifications
- Board Certification -Clinical Biomedical Genetics, American Board of Medical Genetics and Genomics 2009 - 2029
- Board Certification - Clinical Genetics and Genomics, American Board of Medical Genetics and Genomics 2005 - 2025
- Board Certification - Internal Medicine, American Board of Internal Medicine 2003 - 2023
- M.D., Cairo University, Kasr Al Ainy Medical School (Egypt) 1998
- Residency, Internal Medicine, Cairo University, Kasr Al Ainy Medical School (Egypt) 1991 - 1994
- M.S., Cairo University, Kasr Al Ainy Medical School (Egypt) 1993
- House Officer, Cairo University, Kasr Al Ainy Medical School (Egypt) 1990 - 1991
- M.B.B.Ch., Cairo University, Kasr Al Ainy Medical School (Egypt) 1989
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Medical Licensure
- MD445304. Pennsylvania. 2021
- 151311, . North Carolina. 2021
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Previous Appointments & Affiliations
- Associate Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2019 - 2020
- Instructor in the Department of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2019
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Leadership & Clinical Positions at Duke
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Clinical Translational Researcher
Principal investigator on clinical trials
Co-Investigator and Collaborator on clinical research projects and clinical trials
Clinical Geneticist ( general medical genetics) and Clinical Biochemical Geneticist (inborn errors of metabolism)
Educator training and teaching fellows and Post-graduate trainees
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Clinical Translational Researcher
- Recognition
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In the News
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FEB 4, 2021 Duke Health Blog by Larissa Biggers
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- Expertise
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Subject Headings
- Amino Acid Metabolism, Inborn Errors
- Carbohydrate Metabolism
- Carbohydrate Metabolism, Inborn Errors
- Cholesterol Ester Storage Disease
- Clinical trials
- Glycogen Storage Disease
- Inherited Disorders of Metabolism
- Lipid Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Metabolism, Inborn errors of
- Organ Transplantation
- Translational Medical Research
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Global Scholarship
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Teaching
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- Research
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Selected Grants
- Defining the clinical characteristics for clinical trial endpoints of GSD VI and IX awarded by Kriya Therapeutics 2022 - 2025
- An Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of a Single Dose of mRNA-3745 in Participants with Glycogen Storage Disease Type 1a (GSD1a) awarded by Moderna Therapeutics, Inc. 2022 - 2024
- A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Adeno-associated Virus Serotype 8-mediated Gene Transfer of Glucose-6-phosphatase in Patients With Glycogen Storage Disease Type Ia awarded by Ultragenyx Pharmaceutical 2021 - 2024
- Anaplerotic Therapy Using Triheptanoin for Patients with Glycogen Storage Disease type I awarded by Ultragenyx Pharmaceutical 2020 - 2022
- A Multicenter, dOuble-blind, ranDomized, placebo-controlled, parallel-group study to determine the effIcacy and safety of lucerastat oral monotherapy in adult subjects with FabrY disease. awarded by Idorsia Pharmaceuticals Ltd 2020 - 2021
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Fellowships, Supported Research, & Other Grants
- Pfizer educational grant on Lysosomal storage disorders awarded by Pfizer 2020
- Shire educational grant for Lysosomal storage disease awarded by Shire 2020
- Publications & Artistic Works
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Selected Publications
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Academic Articles
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Koch, Rebecca L., Claudia Soler-Alfonso, Bridget T. Kiely, Akihiro Asai, Ariana L. Smith, Deeksha S. Bali, Peter B. Kang, et al. “Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.” Mol Genet Metab 138, no. 3 (March 2023): 107525. https://doi.org/10.1016/j.ymgme.2023.107525.Full Text Link to Item
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El-Gharbawy, Areeg, Adviye A. Tolun, Carine A. Halaby, Stephanie L. Austin, Priya S. Kishnani, and Deeksha S. Bali. “Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?” Mol Genet Metab Rep 31 (June 2022): 100856. https://doi.org/10.1016/j.ymgmr.2022.100856.Full Text Open Access Copy Link to Item
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Hijazi, Ghada, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, et al. “A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.” Mol Genet Metab Rep 29 (December 2021): 100821. https://doi.org/10.1016/j.ymgmr.2021.100821.Full Text Open Access Copy Link to Item
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Kishnani, Priya S., Jennifer Goldstein, Stephanie L. Austin, Pamela Arn, Bert Bachrach, Deeksha S. Bali, Wendy K. Chung, et al. “Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).” Genet Med 21, no. 4 (April 2019): 772–89. https://doi.org/10.1038/s41436-018-0364-2.Full Text Link to Item
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Gillingham, Melanie B., Stephen B. Heitner, Julie Martin, Sarah Rose, Amy Goldstein, Areeg Hassan El-Gharbawy, Stephanie Deward, et al. “Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.” J Inherit Metab Dis 40, no. 6 (November 2017): 831–43. https://doi.org/10.1007/s10545-017-0085-8.Full Text Link to Item
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Austin, Stephanie L., Areeg H. El-Gharbawy, Vellore G. Kasturi, Andra James, and Priya S. Kishnani. “Menorrhagia in patients with type I glycogen storage disease.” Obstet Gynecol 122, no. 6 (December 2013): 1246–54. https://doi.org/10.1097/01.AOG.0000435451.86108.82.Full Text Link to Item
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El-Gharbawy, Areeg H., Jennifer L. Goldstein, David S. Millington, Amie E. Vaisnins, Andrea Schlune, Bruce A. Barshop, Andreas Schulze, Dwight D. Koeberl, and Sarah P. Young. “Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.” Mol Genet Metab 109, no. 2 (June 2013): 215–17. https://doi.org/10.1016/j.ymgme.2013.03.003.Full Text Link to Item
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El-Gharbawy, Areeg H., Gifty Bhat, Jaime E. Murillo, Beth L. Thurberg, Christoph Kampmann, Karl-Eugen Mengel, and Priya S. Kishnani. “Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.” Mol Genet Metab 103, no. 4 (August 2011): 362–66. https://doi.org/10.1016/j.ymgme.2011.04.009.Full Text Link to Item
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Smith, Edward C., Areeg El-Gharbawy, and Dwight D. Koeberl. “Metabolic myopathies: clinical features and diagnostic approach.” Rheum Dis Clin North Am 37, no. 2 (May 2011): 201–vi. https://doi.org/10.1016/j.rdc.2011.01.004.Full Text Link to Item
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El-Gharbawy, Areeg H., Anne Boney, Sarah P. Young, and Priya S. Kishnani. “Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.” Mol Genet Metab 102, no. 2 (February 2011): 214–15. https://doi.org/10.1016/j.ymgme.2010.11.001.Full Text Link to Item
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El-Gharbawy, Areeg H., Joanne Mackey, Stephanie DeArmey, Greg Westby, Sherry G. Grinnell, Peggy Malovrh, Robert Conway, and Priya S. Kishnani. “An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.” Mol Genet Metab 104, no. 1–2 (2011): 118–22. https://doi.org/10.1016/j.ymgme.2011.07.004.Full Text Link to Item
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Kishnani, Priya S., Stephanie L. Austin, Pamela Arn, Deeksha S. Bali, Anne Boney, Laura E. Case, Wendy K. Chung, et al. “Glycogen storage disease type III diagnosis and management guidelines.” Genet Med 12, no. 7 (July 2010): 446–63. https://doi.org/10.1097/GIM.0b013e3181e655b6.Full Text Link to Item
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El-Gharbawy, Areeg H., Joseph N. Peeden, Ralph S. Lachman, John M. Graham, Stephen R. Moore, and David L. Rimoin. “Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.” Am J Med Genet A 152A, no. 1 (January 2010): 169–74. https://doi.org/10.1002/ajmg.a.33146.Full Text Link to Item
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El-Gharbawy, Areeg H., Diane C. Adler-Wailes, Margaret C. Mirch, Kelly R. Theim, Lisa Ranzenhofer, Marian Tanofsky-Kraff, and Jack A. Yanovski. “Serum brain-derived neurotrophic factor concentrations in lean and overweight children and adolescents.” J Clin Endocrinol Metab 91, no. 9 (September 2006): 3548–52. https://doi.org/10.1210/jc.2006-0658.Full Text Link to Item
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El-Gharbawy, Areeg H. “Hyperinsulinism/Hyperammonemia Syndrome: a synopsis.” Mol Genet Metab 84, no. 2 (February 2005): 101–3. https://doi.org/10.1016/j.ymgme.2004.12.013.Full Text Link to Item
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El-Gharbawy, Areeg H., Jane Morley Kotchen, Clarance E. Grim, Mary Kaldunski, Raymond G. Hoffmann, Zdenka Pausova, Pavel Hamet, and Theodore A. Kotchen. “Gender-specific correlates of leptin with hypertension-related phenotypes in African Americans.” Am J Hypertens 15, no. 11 (November 2002): 989–93. https://doi.org/10.1016/s0895-7061(02)03089-3.Full Text Link to Item
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El-Gharbawy, A. H., J. M. Kotchen, C. E. Grim, M. Kaldunski, R. G. Hoffmann, Z. Pausova, D. Gaudet, F. Gossard, P. Hamet, and T. A. Kotchen. “Predictors of target organ damage in hypertensive blacks and whites.” Hypertension 38, no. 4 (October 2001): 761–66. https://doi.org/10.1161/hy1001.092613.Full Text Link to Item
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El-Gharbawy, A. H., V. S. Nadig, J. M. Kotchen, C. E. Grim, K. B. Sagar, M. Kaldunski, P. Hamet, et al. “Arterial pressure, left ventricular mass, and aldosterone in essential hypertension.” Hypertension 37, no. 3 (March 2001): 845–50. https://doi.org/10.1161/01.hyp.37.3.845.Full Text Link to Item
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Conference Papers
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El-Gharbawy, Areeg H., Georgianne L. Arnold, Nancy Perrott-Taylor, Tiffany Hughley, Katie Long, Jerry Vockley, and Priya S. Kishnani. “OPTIMIZING METABOLIC CONTROL OF GLYCOGEN STORAGE DISEASE TYPE 3 (GSD3): POTENTIAL ROLE FOR MEDIUM CHAIN TRIGLYCERIDES (MCT).” In Molecular Genetics and Metabolism, 111:284–85. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2014.Link to Item
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El-Gharbawy, Areeg H., Edward C. Smith, Teodoro Bottiglieri, Keith Hyland, Sarah P. Young, and Dwight Koeberl. “Why 5-methyltetrahydrofolate may be preferred to folinic acid in severe MTHFR deficiency complicated by cerebral folate deficiency. Results of an "n-1-clinical trial".” In Molecular Genetics and Metabolism, 102:278–79. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2011.Link to Item
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Young, Sarah P., Areeg H. El-Gharbawy, Jennifer Goldstein, Amie E. Vaisnins-Carroll, Dwight D. Koeberl, and David Millington. “Elevation of guanidinoacetate in the newborn blood spot of a patient with guanidinoacetate methyltransferase deficiency.” In Molecular Genetics and Metabolism, 102:324–324. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2011.Link to Item
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El-Gharbawy, Areeg H., Courtney D. Thornburg, Stephanie Austin, and Priya S. Kishnani. “Metabolic predictors of coagulation abnormalities in glycogen storage disease type 1.” In Molecular Genetics and Metabolism, 102:277–78. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2011.Link to Item
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Tolun, A. A., A. H. El-Gharbawy, K. Boyette, S. Austin, J. L. Goldstein, P. S. Kishnani, and Di Bali. “UTILITY OF SERUM BIOTINIDASE ACTIVITY AS A BIOMARKER FOR EVALUATING AND MONITORING HEPATIC GLYCOGEN STORAGE DISORDERS.” In Journal of Inherited Metabolic Disease, 33:S68–S68. SPRINGER, 2010.Link to Item
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El-Gharbawy, Areeg H., Anne Boney, and Priya S. Kishnani. “SEVERE NEONATAL LACTIC ACIDOSIS IN A MALE INFANT WITH A PDH E1 ALPHA FRAME SHIFT MUTATION IN THE C-TERMINAL REGION: COULD WE PREDICT THE OUTCOME?” In Molecular Genetics and Metabolism, 99:213–213. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2010.Link to Item
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Kotchen, T. A., A. H. El-Gharbawy, C. E. Grim, J. M. Kotchen, R. J. Roman, M. L. Kaldunski, D. Gaudet, Z. Pausova, P. Hamet, and J. Tremblay. “Insulin resistance attenuates the hypertension-associated elevation of atrial natriuretic factor (ANF) in African Americans.” In Journal of Hypertension, 20:S289–S289. LIPPINCOTT WILLIAMS & WILKINS, 2002.Link to Item
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El-Gharbawy, A. H., J. M. Kotchen, C. E. Grim, D. Gaudet, P. Hamet, and T. A. Kotchen. “Gender specific metabolic, hemodynamic, and renal correlates of leptin in hypertensive African Americans.” In Hypertension, 38:477–477. LIPPINCOTT WILLIAMS & WILKINS, 2001.Link to Item
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Kotchen, T. A., A. H. El-Gharbawy, C. E. Grim, J. M. Kotchen, R. Roman, J. Tremblay, P. Hamet, and M. L. Kaldunski. “Insulin resistance attenuates the hypertension-associated elevation of ANF in African Americans.” In Hypertension, 38:506–506. LIPPINCOTT WILLIAMS & WILKINS, 2001.Link to Item
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El-Gharbawy, A. H., J. M. Kotchen, C. E. Grim, A. W. Cowley, K. R. Bell, P. Hamet, D. Gaudet, and T. A. Kotchen. “Correlates of insulin resistance in hypertensive African Americans.” In Journal of Investigative Medicine, 48:265A-265A. LIPPINCOTT WILLIAMS & WILKINS, 2000.Link to Item
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- Teaching & Mentoring
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Advising & Mentoring
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1- Michael Aiduk - 2nd-year Medical Student MD/Ph.D. candidate- clinical supervision, and mentoring on a case report currently in writing
2- Dr. Maria (Mercedes) de las Barzi Dieguez Ph.D. : mentoring, and advising for clinical translational research
3- Madeline Hemmingsen Ph.D. candidate: mentoring, and advising for clinical translational research
4- Tong Chen Ph.D. candidate: mentoring, and advising for clinical translational research
5- Cindy Li duke graduate- mentored her during her first clinical coordinator task as she conducted my PI initiated study, and advised for her future interest in joining the medical school and pursuing a career in medicine
6- Dr. Ghada Hijazi MD- post-doc researcher - advisor on career and research interests
Available to mentor:
- Affiliate
- Faculty
- Fellow
- Masters
- Other
- PhD
- Post-Doc
- Professional
- Resident
- Undergraduate
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1- Michael Aiduk - 2nd-year Medical Student MD/Ph.D. candidate- clinical supervision, and mentoring on a case report currently in writing
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Teaching Activities
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Duke Teaching activities:
A-Joint Medical genetics and Neonatology physiology fellows lecture series
1- Clinical Management and differential diagnosis of inborn errors of metabolism associated with Hyperammonemia and lactic acidosis on 02/26/2020
2- Clinical Management and differential diagnosis of inborn errors of metabolism associated with hypoglycemia on 03/18/2020
3- Congenital disorders of Glycosylation (virtual) 04/01/2020
B- Neurology Conference Presentation
1- presentation IEMs in Neurology clinical cases 03/12/2020
C-Duke residency program ( virtual) talks;
1- Disorders of CHO metabolism
2- Disorders of Fatty acid oxidation
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Duke Teaching activities:
- Scholarly, Clinical, & Service Activities
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Presentations & Appearances
- Glycogen Storage Disorders. 8th Marmara Pediatric Congress. Marmara Pediatric Congress- Turkey. February 21, 2021 - February 21, 2021 2021
- Lysosomal storage disorders an Overview. Pfizer Educational training grant ( first virtual). Duke Medical Genetics. December 7, 2020 - December 7, 2020 2020
- Glycogen Storage Disease type I : a Bird's eye view. Annual Meeting- North Carolina Medical Genetics Association (NCMGA). Carolina Medical Genetics Association (NCMGA). October 23, 2020 - October 23, 2020 2020
- Carbohydrate Metabolism Disorders. Medical Biochemical Genetics fellowship Clinical core seminar series. University of Colorado. September 11, 2020 - September 11, 2020 2020
- Fatty acid oxidation disorders. NSW biochemical genetics service Fellowship lecture series (Australia). NSW-Sydney- Australia. June 10, 2020 - June 10, 2020 2020
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Outreach & Engaged Scholarship
- Adult Metabolic disorder session. 14th International Congress for inborn Errors of Metabolism (ICIEM). ICIEM 2021. June 2021 2021
- Continuous Medical Education. Recertification in Clinical biochemical genetics. American Board of Medical Genetics and Genomics. January 2020 2020
- Communicating Editor. Journal of inherited metabolic disease and reports (JIMD and JMDR). Society for the Study of Inborn Errors of Metabolism (SSIEM). September 2019 2019
- Continuous Medical Education. Clinical maintenance of certification (MOC). American board of Medical Genetics and Genomics. December 2015 2015
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Service to the Profession
- Attended. SSIEM virtual meeting 2020. Society for the Study of Inborn Errors of Metabolism (SSIEM). December 3, 2020 - December 3, 2020 2020
- Attendance . Virtual workshop on AAV-Mediated Gene Therapy. NIH/NCATS. November 30, 2020 - December 1, 2020 2020
- Attendance and poster participation. The virtual conference on lysosomal diseases. June 2, 2020 - June 3, 2020 2020
- Consultant on Glycogen storage disease type 1. Ultragenyx. 2020 - 2020 2020
- Consultant on Glycogen storage disease type III. Ultragenyx. 2020 - 2020 2020
- Reviewer. Journal of inherited metabolic disease and reports (JIMD and JMDR). Society for the Study of Inborn Errors of Metabolism (SSIEM). 2016 2016
- Association for Glycogen Storage Disease. Scientific advisory Board Member. Association for Glycogen Storage Disease (AGSD). 2014 2014
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Service to Duke
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Academic & Administrative Activities
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1- Attendance of Chairman's Rounds and Invited participation and speaker for Chairman's Rounds August 18, 2020
2- Regular Attendance of Pediatrics Grand Rounds
3- Participation in the Department of Pediatrics recruitment of Residents
4- Participation in the Department of Pediatrics- fair for interest in fellowship training
5- Participation in the Division of Medical Genetics Recruitment of Clinical Genetics residents
6- Participation in the Division of Medical Genetics Recruitment of Medical and Clinical Biochemical Genetics fellows
7- Participation in the Division of Medical genetics faculty and Staff Recruitment
8- Attendance of Pediatric Faculty Research Rounds
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1- Attendance of Chairman's Rounds and Invited participation and speaker for Chairman's Rounds August 18, 2020
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Clinical Activities
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ClinicaL investigator 2019- present
Clinical Geneticist Consultant: actively accepting, evaluating, and following patients with medical genetic conditions on an outpatient basis. Patients include children and adults of all ages.
Clinical Biochemical Geneticist: actively accepting, evaluating, and following patients with inborn errors of metabolism including Glycogen storage disorders ( all types), Fatty acids oxidation disorders, organic acidurias, mitochondrial disorders, Lysosomal storage disorders, as well as many other metabolic conditions on an outpatient basis. Patients include children and adults of all ages.
Clinical and Clinical Biochemical Genetics consultant for patients admitted to Duke Pediatric and Adult hospital
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ClinicaL investigator 2019- present
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