Photo has been used for illustrative purpose.

Mariecar Jara-Puyod, Senior Reporter

Officials of the Al Jalila Children’s Specialty Hospital in Dubai announced on Sunday the launch of an in-depth genetic research study involving 6,500 newborns in the UAE that aims to increase the understanding and hopefully aid in the resolution of the inherited disease called Spinal Muscular Atrophy (SMA).

According to the clevelandclinic.org, SMA which comes in four forms, leads to the muscles of infants and children being undeveloped, small, weak and wasted because these do not get the signal to move.

The inability to get the signal is due to the absence of the motor neurons nerve cell that is in-charge of muscle movement. The signs and symptoms, according to the signsofsma.com are limited mobility; breathing, eating, swallowing problems; delayed gross motor skills; spontaneous tongue movement; and scoliosis, While a November 2020 article in the medscape.com indicated that SMA global prevalence was at one per 15,000 to 20,000 live births worldwide, the “Gene Therapy” portal cited the “Gene Therapy for Spinal Muscular Atrophy: The Qatari Experience” by Hossamaldein Haber Ali, Khalid Ibrahim and Tawfeq Ben Omran, stating that “in the Middle East, incidence of SMA has been reported to range from 10 to 193 per 100,000 live births.” The “40-fold” higher mark when compared to the Western rates is so as “potentially,” the cause are the “increasing (numbers) of consanguineous marriages in the region.” The SMA News Today portal states that 68 per cent of children suffering from the SMA Type 1 (Werdnig-Hoffman Disease) die before they are two years old while 82 per cent die before reaching their fourth birthday. The SMA Type 2 (Dubowitz Disease) children survive throughout adulthood with proper care.

The SMA Type 3 (Kugelberg-Welandar Disease)-afflicted have greater arm strength than leg strength and may need help in walking by age 14.

Adults challenged with the SMA Type 4 will be able to walk unaided until they are 60 years old. On Sunday, in a press statement, Al Jalila Children’s Specialty Hospital chief executive officer Dr Abdulla Ibrahim Al Khayat said: “This will be a breakthrough research study for the UAE, as, to date, no such large-scale population-based studies into epidemiology has been performed. The research takes us closer to achieving our goal in becoming the region’s leading paediatric hospital.” Specifically, the research study shall be carried out by way of a screening programme to be conducted at the Genomics Centre of the hospital.

The 6,500 newborns whose participation are given green light by their parents, shall be “recruited” from 10 public and private maternity health facilities.

The UAE Ministry of Health and Prevention and the Dubai Health Authority are project collaborators.

The project is in connection with the UAE National Advanced Sciences Agenda 2031 unveiled in 2018 by Vice President and Prime Minister of the UAE and Ruler of Dubai His Highness Sheikh Mohammed Bin Rashid Al Maktoum.

The national plan is for the promotion of advanced sciences through the empowerment of the Emirati scientists and creative minds that strengthens the nation’s “march to the future” through the adoption of modern technologies and advanced sciences.” Al Khayat said: “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.”

He added the research study conclusions shall be used as a guide towards the establishment of credible as well as reliable SMA national screening programme “for 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 programmes to study the Arab genome.”

On the worthiness of reinforcing Genomics as part of the multi-disciplinary approach to health concerns, Al Jalila Children’s Specialty Hospital-Genomics Centre director Dr Ahmad Abou Tayoum said: “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 and for children and adults alike.”