Faculty

Institution

Unit

Venue

Areeg Hassan El-Gharbawy

Associate Professor of Pediatrics

Duke University

Affiliations

School of Medicine

Clinical Science Departments

Department of Pediatrics

Division of Medical Genetics

Areeg Hassan El-gharbawy is currently serving as a Clinical Science S Associate Professor of Pediatrics at Duke University.

Honors

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Experiences

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Education

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Areeg Hassan El-Gharbawy

Duke University

Associate Professor of Pediatrics

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genetics molecular genetics genetic disorders medical genetics medicine metabolism dermatology genomics hematology pharmacology human genetics gene expression hepatology genome biology respiratory medicine applied genetics neonatology molecular medicine mammalian biology metabolic syndrome clinical biochemistry medicinal research child neurology molecular diagnostics experimental medicine metabolic disorders genomic medicine clinical practice resource intellectual disability vascular biology heredity digestive diseases stem cell research molecular metabolism child nutrition disease diagnosis viral genetics mutagenesis randomized controlled trials genome instability variant interpretation splicing variant developmental genetics allelic variant angiology vascular disease short-term variability animal genetics bleeding disorders fetal medicine andrology obstetrics maternal-fetal medicine clinical case report spine deformities cervical spine abnormal development craniofacial disorders upper extremity transplantation medicine metabolic regulation management guidelines glycogen storage diseases neonatal hypotonia microdeletion syndrome inborn errors perinatal autoinflammation fetal thrombotic vasculopathy hemophagocytic lymphohistiocytosis congenital malformations late-onset pompe disease thoracic aorta clinical spectrum severe cases metabolic abnormality pigb cause

Notable Scholarly Works

Notable Federal Grants

Collaborators

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis. JIMD Reports (2026)

Efficacy and Safety Results From a Pivotal Phase 3 Trial of Dtx401, an Aav8-Mediated Liver-Directed Gene Therapy, in Individuals With Glycogen Storage Disease Type Ia (Gsdia). Endocrine Abstracts (2025)

gene therapysafety resultsliver physiologyliver diseaseimmunologyhepatologymedicineautoimmune diseasesexperimental medicinetherapeutic efficacypivotal phase 3liver transplantation

P076: Molybdenum Cofactor Deficiency: Results of Rapid S-Sulfocysteine Analysis and Genome Sequencing Still Not Rapid Enough. Genetics in Medicine Open (2025)

Persistent Elevations of Alkaline Phosphatase as an Early Indicator of Gm1 Gangliosidosis. Molecular Genetics and Metabolism Reports (2025)

Early Presentation of Morquio B Syndrome Identified via Skeletal Et Biochemical Findings. Molecular Genetics and Metabolism (2024)

Iskren MenkovicAshlee R. StilesSarah P. YoungAreeg El-Gharbawy

metabolismgenetic disordersmolecular geneticsbiochemical findingsgenetics

Impact of Citrulline Substitution on Clinical Outcome After Liver Transplantation in Carbamoyl Phosphate Synthetase 1 and Ornithine Transcarbamylase Deficiency. Journal of Inherited Metabolic Disease (2024)

Denise AldrianBirgit WaldnerGeorg F. VogelAreeg H. El‐GharbawyPatrick McKiernanJerard VockleyYuval E. LandauFuad Al MutairiKarolina M. StepienAnne Mei‐Kwun KwokYılmaz YıldızTomas HonzikSilvie KelifovaCarolyn EllawayAllan M. LundMari MoriSarah C. GrünertSabine Scholl‐BürgiThomas ZöggelerRupert OberhuberStefan SchneebergerThomas MüllerDaniela Karall

ornithine transcarbamylase deficiencypharmacologygeneticstransplantation medicinemetabolic engineeringmetabolic syndromeclinical lipidologyenzymesclinical biochemistrydrug metabolismbiochemistrycellular therapymetabolic disordersmedical geneticsliver transplantationclinical outcomeregenerative medicinelipoprotein metabolismmetabolic regulationhepatologycitrulline substitution

Mitochondrial Bioenergetics and Cardiolipin Remodeling Abnormalities in Mitochondrial Trifunctional Protein Deficiency. JCI Insight (2024)

Eduardo Vieira NetoMeicheng WangAustin J. SzuminskyLethicia FerraroErik KoppesYudong WangClinton Van’t LandAl-Walid MohsenGeancarlo ZanattaAreeg H. El-GharbawyTamil S. AnthonymuthuYulia Y. TyurinaVladimir A. TyurinValerian KaganHülya BayırJerry Vockley

molecular biologymitochondrial bioenergetics

P748: Duplication of 12Q24.11-Q24.31 in a Patient With Noonan-Like Features. Genetics in Medicine Open (2024)

Ludmila FrancescattoBenjamin CocanougherKristen DeakCatherine RehderSarah RapisardoAreeg El-GharbawyStefan Rentas

human geneticsmedical geneticsgenetic disordersgenetics

Diagnosis and Management of Glycogen Storage Disease Type IV, Including Adult Polyglucosan Body Disease: A Clinical Practice Resource. Molecular Genetics and Metabolism (2023)

Rebecca L. KochClaudia Soler-AlfonsoBridget T. KielyAkihiro AsaiAriana L. SmithDeeksha S. BaliPeter B. KangAndrew P. LandstromH. Orhan AkmanT. Andrew BurrowJennifer L. Orthmann-MurphyDeberah S. GoldmanSurekha PendyalAreeg H. El-GharbawyStephanie L. AustinLaura E. CaseRaphael SchiffmannMichio HiranoPriya S. Kishnani

metabolismphysiologymolecular geneticsmedicineclinical practice resourcegenetics

O18: A Path Forward for Patients With Glycogen Branching Enzyme Deficiency: Consensus on Diagnosing and Managing Glycogen Storage Disease Type IV*. Genetics in Medicine Open (2023)

Rebecca KochClaudia Soler-AlfonsoBridget KielyAkihiro AsaiAriana SmithDeeksha BaliPeter KangAndrew LandstromH. Orhan AkmanT. Andrew BurrowJennifer Orthmann-MurphyDeberah GoldmanSurekha PendyalAreeg El-GharbawyStephanie AustinLaura CaseRaphael SchiffmannMichio HiranoPriya Kishnani

gene therapygenetic engineeringgenetic disordersdiagnosisenzyme deficiencygenomicsdermatologygenome biologydisease gene identificationpath forwardmolecular diagnosticsgenomic medicinemedicineapplied geneticsgene expressionmedical geneticsgeneticsdiabetes therapies

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Areeg Hassan El-Gharbawy

Associate Professor of Pediatrics

Duke University

Affiliations

School of Medicine

Clinical Science Departments

Department of Pediatrics

Division of Medical Genetics

Areeg Hassan El-gharbawy is currently serving as a Clinical Science S Associate Professor of Pediatrics at Duke University.

Honors

Create free account to unlock more features

Experiences

Create free account to unlock more features

Education

Create free account to unlock more features

Areeg Hassan El-Gharbawy

Duke University

Associate Professor of Pediatrics

You can click a keyword to filter the displayed items

Notable Scholarly Works

Notable Federal Grants

Collaborators

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis. JIMD Reports (2026)

gene therapysafety resultsliver physiologyliver diseaseimmunologyhepatologymedicineautoimmune diseasesexperimental medicinetherapeutic efficacypivotal phase 3liver transplantation

P076: Molybdenum Cofactor Deficiency: Results of Rapid S-Sulfocysteine Analysis and Genome Sequencing Still Not Rapid Enough. Genetics in Medicine Open (2025)

Persistent Elevations of Alkaline Phosphatase as an Early Indicator of Gm1 Gangliosidosis. Molecular Genetics and Metabolism Reports (2025)

Early Presentation of Morquio B Syndrome Identified via Skeletal Et Biochemical Findings. Molecular Genetics and Metabolism (2024)

Iskren MenkovicAshlee R. StilesSarah P. YoungAreeg El-Gharbawy

metabolismgenetic disordersmolecular geneticsbiochemical findingsgenetics

Mitochondrial Bioenergetics and Cardiolipin Remodeling Abnormalities in Mitochondrial Trifunctional Protein Deficiency. JCI Insight (2024)

molecular biologymitochondrial bioenergetics

P748: Duplication of 12Q24.11-Q24.31 in a Patient With Noonan-Like Features. Genetics in Medicine Open (2024)

Ludmila FrancescattoBenjamin CocanougherKristen DeakCatherine RehderSarah RapisardoAreeg El-GharbawyStefan Rentas

human geneticsmedical geneticsgenetic disordersgenetics

Diagnosis and Management of Glycogen Storage Disease Type IV, Including Adult Polyglucosan Body Disease: A Clinical Practice Resource. Molecular Genetics and Metabolism (2023)

metabolismphysiologymolecular geneticsmedicineclinical practice resourcegenetics

O18: A Path Forward for Patients With Glycogen Branching Enzyme Deficiency: Consensus on Diagnosing and Managing Glycogen Storage Disease Type IV*. Genetics in Medicine Open (2023)

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