Al Jalila Children's Speciality Hospital Image Credit: Virendra Saklani/Gulf News

Dubai: Al Jalila Children’s Specialty Hospital has launched the region’s first study into the epidemiology of Spinal Muscular Atrophy (SMA), an autosomal recessive inherited disease and a leading genetic cause of death for sufferers under the age of two years.

The advanced study will focus on the epidemiology of the disease in the UAE, and will take the form of a screening programme to be led by Al Jalila Children’s Specialty Hospital’s state-of-the-art Genomics Centre – the UAE’s first clinical genomics hub in collaboration with the Ministry of Health, Dubai Health Authority, and private hospitals, who are facilitating the recruitment of 6,500 newborns across over 10 public and private maternity hospitals in the UAE. SMA genetic screening for all those infants will be conducted at Al Jalila Children’s Genomics Centre.

“As part of Al Jalila Children’s Specialty Hospital’s steadfast support of the UAE’s National Advanced Sciences Agenda 2031 in addressing health challenges, this will be a breakthrough research study for the UAE as, to date, no such large-scale population-based studies into SMA epidemiology has been performed. The research takes us one step closer to achieving our goal in becoming the region’s leading pediatric hospitals,” said Dr Abdulla Ibrahim Al Khayat, Chief Executive Officer of Al Jalila Children’s Specialty Hospital.

“We are aiming to bridge the knowledge gap about SMA among our local communities. The findings of the study will enormously help decision-makers to anticipate challenges and develop suitable measures. Specifically, our findings will provide the required data to guide the establishment of national screening programs for SMA early detection and prevention. This initiative coincides with our wise leadership’s vision to create a world-class healthcare system and aligns with the formation of the Emirati Genome Programme, one of the first dedicated programs to study the Arab genome. It also coincides with our recent launch of the Center for Genomic Arab Health 2021

Genomics is being integrated into healthcare and is becoming an essential tool to diagnose, manage, and treat patients. Al Jalila Children’s Hospital Genomics Centre is strengthening the UAE’s efforts towards combatting genetic diseases through building much-needed genomic diagnostic and screening capacities,” Dr Al Khayat added.

“The Genomics Centre is filling a significant regional gap for complex genomic diagnostics and genetic counseling by making those services more easily accessible and cost-effective,” said Dr Ahmad Abou Tayoun, Director, Al Jalila Children’s Genomics Centre. “There is an increasing demand globally for genomic testing, and the data captured through this testing is facilitating major strides forward in medical and research advancements, resulting in personalised and more effective medications and treatment plans for children and adults alike.

“I would like to thank the UAE Ministry of Health and Prevention and Dubai Health Authority for their help in facilitating our work with the private hospital sector and giving children and parents the chance to be a part of this truly groundbreaking step towards better understanding SMA - ultimately helping save lives in the future. This collaboration also embodies our leaderships vision to create a world-class healthcare system and underlines the importance of PPP for the ongoing development of healthcare services,” said Dr Mohammed Al Awadhi, Chief Operating Officer for Al Jalila Children’s Specialty Hospital.

“Through this initiative, the Genomics Centre is moving steps ahead. Rather than waiting for affected children to become very sick and present for diagnostic workup, we are now exploring newborn genetic screening as a tool for early detection before they might even become symptomatic. Early detection means earlier intervention and better clinical outcomes. Through this study, we will also generate the necessary data to determine the exact prevalence and carrier rates of SMA. The results will enable us to shed more light on the burden of SMA, raise public awareness around the disease, and support cost-effective national screening programs.” Dr Ahmad Abou Tayoun added.

News of the study comes as Al Jalila Genomics Centre celebrates its first anniversary following its launch by His Highness Sheikh Mohammed Bin Rashid Al Maktoum, Vice President and Prime Minister of the UAE and Ruler of Dubai, in 2020.

Over the past year, Al Jalila Genomics Centre has provided several genomic testing and counselling programmes for children and adults and supported doctors with its diagnostics laboratory, fully equipped clinic, and a team of certified experts in precision medicine.

Al Jalila Genomics Centre is accredited by the College of American Pathologists (CAP) and uses highly advanced molecular technologies and bioinformatics pipelines to interpret genomic data consistent with the American College of Medical Genetics and Genomics (ACMGG) guidelines.