UAE’s experts discuss need for advances in newborn screening to identify congenital defects; address inborn errors of metabolism & genetics

Pediatricians and highly-qualified faculty of medicine across the country gathered to discuss the advances of neo-natal screening at the ‘1st International GMU Conference themed Inborn Errors of Metabolism and Advances in Neonatal Genetics’, The Address, on Friday, 16th December 2016. Organized by Gulf Medical University (GMU) in association with Thumbay Labs, one of the largest CAP-accredited networks of private diagnostic labs in the region, the conference highlighted that neonatal screening is an important tool in improving child health- which allows newborns to be screened for congenital defects and inborn errors of metabolism before the babies begin to show symptoms.

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The conference was inaugurated by Prof. Gita Ashok Raj – Provost of GMU. Speaking about the objective behind the conference, she said, “Recent breakthroughs in the diagnosis and treatment have significantly improved the prognosis of several conditions related to inborn errors of metabolism. It is vital for practicing pediatricians and caregivers to be familiar with the clinical presentation of these disorders.”

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The opening session was chaired by Prof. Majed J. Dasouki (Adj. Professor Dept. of Neurology, University of Kansas, USA) and Prof. Gita Ashok Raj, and discussed the following topics: Exome Sequencing Genetics in Medical Practice (by Prof. Rizwan Naeem, Professor of Pathology, Albert Einstein College of Medicine, New York), Taking Genomics from Lab to Bedside (Prof. P. K. Menon, Prof. Research & Director CABRI, Gulf Medical University, Ajman), Newborn Screening- The Future Ahead; Going Beyond Blood Spot Testing (by Prof. Zareen Fasih, Consultant Pediatrics-Neonatology & Professor, Thumbay Hospital – Ajman), Expanded Newborn Screening (by Dr. Osama Y. Aldirbashi, Assistant Professor, Dept. of Pediatrics, UAE University, Al Ain).

Stressing the importance of newborn screening, Prof. P. K. Menon said that GMU’s Centre for Advanced Biomedical Research and Innovation (CABRI) has a state-of-the-art laboratory which screens newborn children for 57 different inborn errors of metabolism. “The test is called ‘NeoScreen’. It is strongly recommended that all newborn children should undergo this test in the first 48 to 72 hours of life. If the inborn errors of metabolism are detected within the first week of birth, adequate steps can be taken to ensure that the child leads a healthy life.” Elaborating on the studies undertaken by CABRI, he said, “We have studied close to 5000 cases from the region, and found that approximately 4.8% of the children born have some inborn errors of metabolism, the most common being G6PD deficiencies. Hemoglobinopathy is another common problem.”

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Discussing the future of new born screening, Prof. Zareen Fasih said that the neonatal screening program was in the infancy stage across UAE, despite its deep relevance due the high consanguinity rate and incidents of inborn errors of metabolism. “If not diagnosed in the early stage, inborn errors of metabolism lead to very high morbidity and mortality in the neo-natal and pediatric population. Hence, it’s of paramount importance to do neo-natal screening blood test for each baby that’s born,” she said.

In the second session, chaired by Prof. Rizwan Naeem and Prof. Zareen Fasih, the topics discussed were Diagnostic approach to a child with Facial Dysmorphic Features (by Dr. Mohammed Naved, Consultant Pediatrician-Geneticist, HRH Sheikh Sultan Bin Khalifa Al Nahyan Humanitarian & Scientific Foundation, UAE), Genomic Sequencing in New Born Screening; The Baby Seq Project (by Prof. Majed J. Dasouki) and Inborn Errors of Metabolism – CABRI Experience (By Dr. I. A. Shaafie, Specialist Clinical Biochemist, CABRI, Gulf Medical University).

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Accredited by MOH for 7.5 CME hours, the event was attended by Pediatricians, Neonatologists, Obstetricians/Gynecologists, Researchers, Clinical Scientists, Academic Faculties, Pediatric Nurses and Students from across the country.

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