Areeg Hassan El-Gharbawy

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

Disorders
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
areeg.el-gharbawy@duke.edu (919) 681-9873

Background
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
Medical Licensure
- MD445304. Pennsylvania. 2021
- 151311, . North Carolina. 2021
Duke Appointment History
- Associate Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2019 - 2020
- Instructor in the Department of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2019
Leadership & Clinical Positions at Duke
- 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
Recognition
In the News
- FEB 4, 2021 Duke Health Blog by Larissa Biggers
  
  Liver transplant saves Baby with a rare disorder
Expertise
Subject Headings
Global Scholarship
- Teaching
  - Australia (Country)
  - Turkey (Country)
Research
Selected Grants
- 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
- 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
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
External Relationships
- Amicus
- Ultragenyx
Publications & Artistic Works
Selected Publications
- Academic Articles
  - 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.
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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.
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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.
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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.
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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 (September 2011): 118–22. https://doi.org/10.1016/j.ymgme.2011.07.004.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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- Conference Papers
  - 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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Teaching & Mentoring
Advising & Mentoring
- 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
Teaching Activities
- 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
Scholarly, Clinical, & Service Activities
Presentations & Appearances
Outreach & Engaged Scholarship
Service to the Profession
Service to Duke
- DUKE IRB. Duke Institutional Review Board Committee Member. 2011 - 2012 2011 - 2012
Academic & Administrative Activities
- 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
Clinical Activities
- 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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Education, Training, & Certifications

Medical Licensure

Duke Appointment History

Leadership & Clinical Positions at Duke

In the News

Subject Headings

Global Scholarship

Teaching

Selected Grants

Fellowships, Supported Research, & Other Grants

External Relationships

Selected Publications

Academic Articles

Conference Papers

Advising & Mentoring

Teaching Activities

Presentations & Appearances

Outreach & Engaged Scholarship

Service to the Profession

Service to Duke

Academic & Administrative Activities

Clinical Activities