Hatem El-Shanti, MD
Research Profile

Education and Training

1977-1983; Cairo University Medical School; Medicine, MD
1984-1985; Cairo University Hospitals; Internship (Rotating)
1987-1989; Indiana University; Masters M.Sc. (Medical Genetics)
1987-1989; Indiana University; Fellowship (Clinical Genetics)
1989-1990; University of Iowa; Internship (Pediatrics)
1990-1992; University of Iowa; Residency (Pediatrics)
1992-1993; University of Iowa; Fellowship (Clinical Genetics)

Research Interests:

• Gene mapping and positional cloning of human rare autosomal recessive disorders
• The identification of the mechanisms underlying bone and skin inflammation through studying the genetic etiology of the autoinflammatory disorder Chronic Recurrent Multifocal Osteomyelitis (CRMO).
• The identification of the mechanisms underlying non-disjunction in human gametes which lead to trisomic conception.
• The identification of the mechanisms underlying sex determination in human which may lead to sex reversal, gonadal dysgenesis or true hermaphroditism.
• The identification of the developmental processes in the eye lens and its suspension mechanism that may lead to cataracts or ectopia lentis.
• Mutation analysis of MEFV, LPIN2 and other autoinflammatory disorder genes
• Genetics of childhood epilepsy

Research Team /Lab Members:

Collaborators:

• Polly Ferguson, MD, Assistant Professor, Department of Pediatrics
• Paul Romitti, PhD, Assistant Professor, Department of Epidemiology, College of Public Health

Lab members:

• Shan Chen, Research Assistant, Department of Pediatrics
• Lih Yeen Tan, Genetic Counselor, Department of Pediatrics
• Timothy Helmes, Undergraduate Student, University of Iowa
• Amy Buhr, Graduate Student, PhD Program in Genetics
• Andrew Buller, Undergraduate Student, University of Iowa
• Firas Rabi, Critical Care Fellow, Department of Pediatrics

Research Affiliations:

• Department of Pediatrics
• Division of Medical Genetics
• Genetics Ph.D Program

Model System:

• Development of animal models for rare human genetic disorders
• Gene discovery of rare human genetic disorders

Recent Publications (past 3 years):

1. Jbour A, Mubaidin A, Till M, El-Shanti H, Hadidi A, Ajlouni KM. Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: A novel disorder or a new variant of Boucher-Neuhauser syndrome. J Med Genet 2003, 40:e2.
2. Shegem NS, Alsheek Nasir AM, Batieha AM, El-Shanti H, Ajlouni KM. Effects of short term Metformin administration on androgens in Diabetic Men. Saudi Med J 2004, 25:75-78.
3. Haddidi A, Jarrah N, Al-Till M, El-Shanti H, Ajlouni K. Radiologic findings in Wolfram syndrome. Saudi Med J 2004; 25:638-641.
4. El-Shanti H. Further delineation of El-Shanti syndrome. Eur J pediatr 2004; 163:761-762.
5. Majeed HA, El-Khateeb M, El-Shanti H, Abu Rabaiha Z, Tayeh M, Najib D. The spectrum of Familial Mediterranean Fever gene mutations in Arabs: Report of a large series. Semin Arthritis Rheum 2005; 34:813-818.
6. Ferguson PJ, Chen S, Tayeh M, Ochoa LA, Leal S, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H. Homozygous Mutations in LPIN2 are Responsible for the Syndrome of Chronic Recurrent Multifocal Osteomyelitis and Congenital Dyserythropoietic Anemia (Majeed Syndrome). J Med Genet 2005; 42:551-557.
7. Al-Alami J, Tanner SM, Tayeh MK, de la Chapelle A, El-Shanti H: Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 Jordan. Saudi Med J 2005; 26:1061-1064.
8. Ferguson PJ, Bing X, Vasef MA, Ochoa LA, Mahgoub A, Waldschmidt TJ, Tygrett LT, Schlueter AJ, El-Shanti H. A missense mutation in pstpip2 is associated with murine autoinflammatory disorder chronic multifocal Osteomyelitis. Bone 2006; 38:41-47.
9. Santos RLP, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour M, McArthur N, Pham T, Mahasneh AA, Ahmad W, Leal SM. Novel sequence variants in the TMIE gene in families with autosomal recessive non-syndromic hearing impairment. J Mol Med 2006; 84:226-231.
10. El-Shanti H, Daoud A, Sadoon A, Leal S, Chen S, Lee K, Spiegel R. A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. Brain Dev 2006; 28:353-357.