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