Marios Kambouris

Marios Kambouris

License Number: 
A19829 Laboratory Consultant Clinical Scientist

Available in following clinical division(s): 

About Marios Kambouris

Senior Attending Physician

Certified by the American Board of Medical Genetics with dual certification: Clinical Molecular Genetics and Ph.D. Medical Genetics. Post-Doctoral fellowships in Clinical Molecular Genetics & Clinical Genetics at Henry Ford Hospital (Detroit, MI, USA). PhD degree in Medical & Molecular Genetics from Indiana University School of Medicine (Indianapolis, Indiana USA) and a BSc degree in Biochemistry & Molecular Biology from State University of New York (Buffalo, New York, USA).

Twenty-three years post-doctoral experience & expertise in Genetics, Genomics, DNA Diagnostics & Biotechnology both in scientific planning and business development including global alliances, venture capital recruiting and private investment fund raising. Established Gonidio LTD [Nicosia-Cyprus] and Geno-Type Biotechnology [Athens-Greece] offering Predictive Genomics and DNA Diagnostic Services. Established Gene Couture LTD formulating and producing NutraCeuticals & CosmeCeuticals based on Predictive Genomics DNA Profiling. Jointly responsible for the formulation of the scientific plan and for negotiating the formation of a Genomics company on behalf of the Research Center of King Faisal Hospital (Riyadh, Saudi Arabia) with British Aerospace Systems (part of an offset program) and Merlin Ventures (a UK based Venture Capitalist Company).

In Clinical Genetics extensive experience, examining, diagnosing, risk assessing, counseling and managing patients with a multitude of genetic disorders, congenital malformations, dysmorphia & mental retardation in Genetics clinics, in-patient consultations, field clinics, Growth clinics (skeletal dysplasias & growth abnormalities) and Neurology clinics (neurogenetic disorders) at Henry Ford Hospital (Detroit, MI, USA), Children’s Hospital of Michigan (Detroit, MI, USA) and Riley Hospital for Children (Indianapolis, IN, USA). Also risk assessing and Genetic counseling for high-risk pregnancy patients (maternal age, family history of genetic disorders, teratogenic exposures, abnormal MSAFP, etc.) in Prenatal Diagnosis clinics at Indiana University and Wishard Memorial Hospitals (Indianapolis, IN, USA).

In DNA Diagnostics, directed and/or established the Molecular Genetics & DNA Diagnostics laboratory at King Faisal Hospital & Research Center (Riyadh, Saudi Arabia), Geno-Type Biotechnology, (Athens, Greece), Gonidio International (Møgeltønder, Denmark), Shafallah Medical Genetics Center [Doha, Qatar] with extensive experience establishing, performing & interpreting DNA diagnostic testing, assessing and signing clinical and prenatal cases for genetic diseases.

Molecular Genetics research interest focused in mapping & identifying human disease genes and discovering novel pathogenic mutations. Involved in the localization and/or identification of more than twenty novel human disease genes and in utilization of populations with unique genetic characteristics for target gene discovery in polygenic, multi-factorial disorders.

  •   Degrees:  PhD, BSc, FACMGG
  •   Specialities:  Clinical Molecular Genetics, Medical Genetics
Years of Experience
Clinical Excellence Awards


Biallelic SCN10A Mutations in Neuromuscular Disease and Epileptic Encephalopathy
Annals of Clinical and Translational Neurology, 2016...
Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Bone W, Mullikin J, Masurel-Paulet Alice, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Faivre L, Riviere JB, Gahl W, Boulos H, Bassuk A, Malicdan MC, El-Shanti H
Mosaic Partial Pericentromeric Trisomy 8 and Maternal Uniparental Disomy in a Male Patient with Autism Spectrum Disorder
Clinical Case Reports, 2016...
Ahram D, Stambouli D, Syrogianni A, Al-Sarraj Y, Gerou S, El-Shanti H
Two Hits in One: Whole Genome Sequencing unveils LIG4 syndrome and Urofacial syndrome in a Case Report of a Child With Complex Phenotype
BioMedCentral [BMC] Medical Genetics, 17:84, 2016...
Fadda A, Butt F, Tomei S, Deola S, Lo B, Robay A, Al-Shakaki A, Al-Hajri N, Crystal R, Kambouris M, Wang E, Marincola FM, Fakhro KA, Cugno C
Multiple coronary artery microfistulas in a girl with Kleefstra syndrome
Case Reports in Genetics, Volume 2016, Article ID 3056053, 5 pages, 2016...
Vargiami E, Ververi A, Al-Mutawa H, Gioula G, Gerou S, Rouvalis F, Kambouris M, Zafeiriou D
Severe Clinical Presentation in Monozygotic Twins with 10p15.3 Microdeletion Syndrome
American Journal of Medical Genetics, 164:3, 764–768, 2014...
Vargiami E, Ververi A, Kyriazi M, Papathanasiou E, Gioula G, Gerou S, Al-Mutawa H, Kambouris M, Zafeiriou D