Majed Dasouki, MD
Physician
Pediatrics
Overview
“Majed Dasouki, MD, is a board-certified clinical and biochemical geneticist and cytogeneticist. Before becoming the Medical Director of Genomics and Personalized Health at AdventHealth for Children in 2020, he served as Director of Newborn Screening and led the biochemical genetics lab at the esteemed King Faisal Specialist Hospital & Research Center in Saudi Arabia. He has also served on the faculty and in various leadership roles at the University of Kansas, University of Missouri, Vanderbilt University, and elsewhere. His research interests include biochemical genetics and clinical cytogenetics, newborn screening and tandem mass spectrometry, novel therapies and clinical trials to address metabolic genetic disorders, gene mapping of single-gene disorders, and more. He has authored or co-authored 118 publications reflecting his diverse research findings in his field, most recently “Proteomics profiling to distinguish DOCK8 deficiency from atopic dermatitis”(Front. Allergy) and “Profiling of Cystic Renal Disease towards Biomarker Discovery” (Biology).
Dr. Dasouki’s medical training has included elite fellowships in pediatric genetics at the University of Michigan and in biochemical genetics at the University of Missouri. Specialties: Congenital malformations (dysmorphology) and chromosomal disorders Familial genetic disorders Genodermatosis, cardiogenetics and neurogenetics Growth and developmental delays/intellectual disabilities Metabolic disorders (inborn error of metabolism) Oncogenetics (inherited cancer syndromes) Prenatal genetic abnormalities and preconception genetic counseling Undiagnosed genetic diseases.”
Specialties:
Congenital malformations (dysmorphology) and chromosomal disorders
Familial genetic disorders
Genodermatosis, cardiogenetics and neurogenetics
Growth and developmental delays/intellectual disabilities
Metabolic disorders (inborn error of metabolism)
Oncogenetics (inherited cancer syndromes)
Prenatal genetic abnormalities and preconception genetic counseling
Undiagnosed genetic diseases
Articles
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation (vol 13, 612, 2012)
NATURE IMMUNOLOGY
2022
Role of gene therapy in Fanconi anemia: A systematic and literature review with future directions.
Hematology/oncology and stem cell therapy
2021
A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome
KIDNEY INTERNATIONAL
2021
Metabolomics Profiling of Cystic Renal Disease towards Biomarker Discovery
BIOLOGY-BASEL
2021
Molecular classification of blood and bleeding disorder genes
NPJ GENOMIC MEDICINE
2021
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease
ISCIENCE
2021
Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function
JOURNAL OF PROTEOME RESEARCH
2021
Distinctive metabolic profiles between Cystic Fibrosis mutational subclasses and lung function
METABOLOMICS
2021
Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis.
Frontiers in allergy
2021
Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions
ACTA HAEMATOLOGICA
2020
Education & Training
Education
University of Jordan, Amman, Jordan
Residency
Pediatrics at University of Minnesota, Minneapolis, MN
Pediatrics at University of Oklahoma, Oklahoma City, OK
Fellowship
Biochemical Genetics at University of Missouri-Columbia, MO
Pediatric Genetics at University of Michigan, Ann Arbor, MI
Specialty
Biochemical geneticist and Cytogeneticist
Board Certifications
Clinical Genetics (M.D.): American Board of Medical Genetics and Genomics
Clinical Cytogenetic: American Board of Medical Genetics and Genomics