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Majed Dasouki, MD

Majed Dasouki, MD

Physician

Pediatrics, Critical Care

Majed Dasouki

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

Distinctive metabolic profiles between Cystic Fibrosis mutational subclasses and lung function

METABOLOMICS

2021

A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome

KIDNEY INTERNATIONAL

2021

Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis.

Frontiers in allergy

2021

Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function

JOURNAL OF PROTEOME RESEARCH

2021

Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease

ISCIENCE

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

Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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