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Research Profile - College of Medicine and Health Science - United ...

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Department <strong>of</strong> Pathology<br />

The Genetic <strong>and</strong> Molecular Basis <strong>of</strong> Diseases<br />

prevalent in UAE (Dr. Bassam R. Ali)<br />

Current <strong>Research</strong> Focus:<br />

1. Identification <strong>of</strong> the molecular defects<br />

underlying single gene disorders in UAE <strong>and</strong><br />

Arab populations. Recessive disorders are highly<br />

prevalent in Arab populations including UAE<br />

mainly due to high levels <strong>of</strong> consanguinity <strong>and</strong><br />

lack <strong>of</strong> prenatal <strong>and</strong>/or pre-conception diagnosis.<br />

We are developing a molecular genetics research<br />

laboratory to look at the molecular defects<br />

causing recessive disorders found in the UAE<br />

population with emphasis on mental retardation<br />

phenotypes, metabolic <strong>and</strong> dysmorphology<br />

disorders. We are collaborating with major<br />

research groups at Harvard Medical School,<br />

University <strong>of</strong> California in San Diego <strong>and</strong><br />

Cambridge University.<br />

2. The cellular mechanisms <strong>of</strong> human<br />

monogenic disorders. We are interested in<br />

protein trafficking <strong>and</strong> quality control within<br />

eukaryotic cells. The protein quality control at the<br />

endoplasmic reticulum level is responsible for<br />

the development <strong>of</strong> several human genetic<br />

diseases including cystic fibrosis <strong>and</strong><br />

emphysema. We recently elucidated the cellular<br />

mechanisms underlying Robinow syndrome <strong>and</strong><br />

Acromesomelic Dysplasia type Maroteaux,<br />

recessive disorders that have been found in<br />

several parts <strong>of</strong> the Middle East including Oman<br />

<strong>and</strong> Saudi Arabia. We are currently looking to<br />

establish the mechanisms underlying Familial<br />

Hypercholesterolemia, Hereditary Hemorrhagic<br />

Telangiectasia <strong>and</strong> other ER-associated<br />

degradation diseases. In addition, we are<br />

exploring ways <strong>of</strong> manipulation <strong>of</strong> ER quality<br />

control for potential therapy <strong>of</strong> such diseases.<br />

3. Pharmacogenetics. With Dr. S. Bastaki <strong>and</strong><br />

Pr<strong>of</strong>.Y. Abdulrazzaq, we started establishing the<br />

alleles for CYP2D6 gene <strong>and</strong> other drug<br />

metabolizing enzymes prevalent in UAE<br />

population.<br />

Departmental Undertaking:<br />

Drs Alia Al Bawardi <strong>and</strong> Saeeda Al Marzooqi<br />

(resident trainees) are completing their training<br />

in Pathology at McGill University, Montreal,<br />

Canada.<br />

Articles in Peerreviewed<br />

Journals<br />

Agarwal MM, Dhatt GS, Safraou<br />

MF. (2008). Gestational<br />

diabetes: using a portable<br />

glucometer to simplify the<br />

approach to screening.<br />

Gynecologic <strong>and</strong> Obstetric<br />

Investigation, 66:178-183.<br />

Al-Dhaheri WS, Hassouna I, Al-<br />

Salam S, Karam SM. (2008).<br />

Characterization <strong>of</strong> breast<br />

cancer progression in the rat.<br />

Ann N Y Acad Sci, 1138:121-31.<br />

Al-Ramadi BK, Fern<strong>and</strong>ez-<br />

Cabezudo MJ, El-Hasasna H, Al-<br />

Salam S, Attoub S, Xu D,<br />

Chouaib S. (2008). Attenuated<br />

bacteria as effectors in cancer<br />

immunotherapy. Ann N Y Acad<br />

Sci, 1138:351-7.<br />

Al-Salam S, Alashari M. (2008).<br />

Expression <strong>of</strong> Galectin-3,<br />

CD138, P16 INK4a <strong>and</strong> TTF-1 in<br />

Mucinous Bronchioloalveolar<br />

adenocarcinoma following<br />

Hodgkin's lymphoma. Applied<br />

Immunohistochemistry &<br />

Molecular Morphology. [ePub<br />

2008]<br />

Al-Salam S, John A, Daoud S,<br />

Chong SM, Castella A. (2008).<br />

Expression <strong>of</strong> Epstein-Barr virus<br />

in Hodgkin lymphoma in a<br />

population <strong>of</strong> <strong>United</strong> Arab<br />

Emirates nationals. Leuk<br />

Lymphoma, 49(9):1769-77.<br />

Al-Salam S, Algawi K, Alashari<br />

M. (2008). Malignant Non-<br />

Teratoid Medulloepithelioma <strong>of</strong><br />

ciliary body with Retinoblastic<br />

differentiation - A case report<br />

<strong>and</strong> review <strong>of</strong> literature.<br />

Neuropathology, 28(5):551-6.<br />

Al-Salam S, Nowotny N, Sohail<br />

M R, Kolodziejek J, Berger T G.<br />

(2008). Ecthyma contagiosum<br />

(orf) – report <strong>of</strong> a human case<br />

from the <strong>United</strong> Arab Emirates<br />

<strong>and</strong> review <strong>of</strong> the literature.<br />

Cutan Pathol, 35(6):603-7.<br />

Al-Salam S, Al Ashari M, Ghazal-<br />

Aswad S. (2008). Expression <strong>of</strong><br />

58

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