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

Department of Pediatrics
The department is also interested in mapping
recessive genetic disorders using the concept of
homozygosity mapping, particularly disorders
which are common or unique to this population.
For example, a gene for Joubert syndrome,
which seems to be common in Arabs, was
mapped to chromosome 9q34.3 and genetic
heterogeneity was established. Subsequently
other genes for Joubert Syndrome were mapped
and mutations were identified in families from
UAE. Another new type of epiphyseal dysplasia
was described in a family from UAE and a gene
was mapped to chromosome 15q26. Several
other disorders are currently being investigated
using the same concept.
Metabolic disorders are common in the UAE.
The department is active in establishing the
prevalence of different metabolic disorders in
the UAE population.
An ongoing study aims to determine prevalence
of alcaptonuria within UAE population.
Perinatal nutrition and nutritional
disorders
The department is involved in studies on
micronutrients abnormalities in pregnancy and
the effect on the fetus/newborn.The preliminary
results suggest that micronutrient deficiency is
common in pregnancy and outcome studies are
in progress.
The department has been active through the
years in experiments involving amino acids
levels at different ages in the UAE population
and showed that some amino acids were
abnormally high in newborn infants using the
then available parenteral amino acid solution.
This led to a change in the solutions used in
the Medical District.
The group working on reproductive toxicology
has established that aflatoxin (a fungus toxin)
contamination of foods is very common, and
that aflatoxins have been detected in blood of
pregnant women and their offspring in larger
amounts than is acceptable. Measurement of
aflatoxin in breast milk of lactating mothers is
in progress. The results will give a much clearer
picture of exposure of infants to aflatoxins.
Vitamin D status among pediatric
population in UAE
This population based study will reveal the
status of Vitamin D levels among adolescents
and female pediatric patients in UAE. Since Vit.
D has a pluripotent role in the body and has
been found to be deficient among women and
newborns in UAE (from previous studies from
our department), this important project will
provide information which will lead to
interventional studies in the future.
Role of Vitamin D in Lung Development
Since the majority of alveolar development
occurs postnatally, the interaction between Vit.
D and factors responsible for alveolarization,
particularly VEGF will be studied. Thus the role
of Vit. D in the epithelial and mesenchymal
interactions during early lung development will
be investigated. This study has significant clinical
implications in Pediatrics as abnormal lung
development and airway reactivity frequently
lead to significant morbidity in later life. We
have observed a very high incidence of asthma
among the pediatric population in Al Ain.
Other areas of research
Other areas of research include clinical and
immunological aspects of hepatitis C,
seroepidemiology and neonatal screening of
CMV and other congenital infections. Clinical
research in neurology includes profile of
epilepsy and drug therapy of epilepsy in the
UAE as well as brain imaging and epidemiology
of cerebral palsy.
Other activities of the department include
establishing normal growth charts for children
from the UAE from ages 0-18 years, and the size
at birth of infants born to UAE nationals. These
growth charts will provide the first standards for
assessing intrauterine and postnatal physical
growth of UAE newly born infants and children.
The role of food allergy and airway reactivity is
another area of interest in our department. This
is being investigated in a population based
approach.
Factors responsible for inflammatory bowel
disease in the pediatric population is an area of
interest and studies on animal models are being
initiated now.
Outcomes of prematurity, especially in the verylow
birthweight and extremely low birthweight
groups in the local population.
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