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

Department
of Paediatrics
Research Profile
Professor & Chair:
Prof P Sasidharan
Professor:
Prof Y M Abdulrazzaq
Prof A Souid
Prof L Al-Gazali
Prof S A Uduman
Associate Professor:
Dr E Aburawi
Dr S Bharwani
Dr H Narchi
Assistant Professor:
Dr S Al-Hammadi
Dr F Al-Jasmi
Dr R Al- Mahmoud
Dr M Al-Samri
Dr A Al-Suwaidi
Dr G Balhaj
Research Medical
Specialist:
Mr T Pramathan
Mr J Kochiyil
Research Assistant:
Ms A Al-Kendi
Medical Secretary:
Ms R Clemente
Secretary:
Ms M Al-Badwawi
Genetics/Birth Defects
(including Neuro-Genetics)
The department has a strong research interest in
the area of birth defect/dysmorphology and brain
malformations including nervous system
dysgenesis. Several disorders have been studied
at the clinical and molecular level.
For example, familial and sporadic forms of cerebral dysgenesis
were studied and a new type of agyria-pachygyria associated with
agenesis of corpus callosum was characterized, a severe form of
a syndrome of myotonia and bone dysplasia [Stüve-Wiedemann
Syndrome (SWS)] was identified to be common in the population
of the UAE. Founder mutation in the Leukemia inhibitory factor
receptor (LIFR) was found in all families affected with SWS in this
population. A birth defect registry for Al Ain Medical District was
established by the department, which has gained membership
of the International Clearing House for Birth Defects. Several
studies from this register were published identifying the
incidence and pattern of the various types of birth defects in this
population together with establishing risk factors involved in
their etiology.
In addition, the group has been investigating the reasons why some
anti-epileptic drugs (vigabatrin, lamotrigine) ingested by women
during pregnancy cause neural tube and other defects.
Departmental researches have already established that these
drugs are teratogenic. It was established that methionine was 5
times lower in embryo of treated pregnant mice than in nontreated
controls. Studies are ongoing to determine the impact of
folic acid and vitamin B12 supplementation on the frequency of
occurrence of anomalies in animal models.
Aflatoxins are commonly found in nuts, grains and have been found
to be increased in pregnant women and their offspring. Study is
ongoing to determine teratogenic effects of aflatoxins in mice.