PIONEERING RESEARCH AROUND GENOMICS OF RARE DISEASES IN THE MIDDLE EAST

As countries strive to reach net-zero by 2050, striking a balance between the amount of greenhouse gas produced and the amount removed from the atmosphere, a team of researchers in the UAE is making its own sustainable impact by turning CO2 into useful products by using gold nanoparticles. Dr. Dinesh Shetty, Assistant Professor in Chemistry at Khalifa University, is leading collaborative research with New York University Abu Dhabi (NYUAD) and the National Chemical Institute in Slovenia, in developing, designing and synthesising advanced materials for energy conversion. The project’s main goal lies in converting CO2, which is abundant and free, into valueadded products.As a greenhouse gas, CO2 is commonly referred to with a negative connotation. However, Dr. Shetty aims to transform this perception, using it for the benefit of society as part of his work’s purpose.Some of the value-added products the research has created include carbon monoxide (CO) and methane, both of which have a strong industrial value. CO is one of the chemicals used in several chemical conversions in the industry, while methane gas represents a valuable industrial gas that is also used in cooking on a daily basis.Gold nanoparticles serve as a beneficial material in the photocatalytic method used by the team, which absorbs light and uses it to convert CO2 into other products. Reusability is another benefit of such material. “We did at least four or five cycles just to prove the concept but technically, we can do more. This work is important because we are talking about zero carbon by 2050 and carbon dioxide in our atmosphere is increasing temperatures around the world because it is a greenhouse gas. Thus, it is not only about reducing it from the atmosphere. The best scenario for us is almost mitigating it from the atmosphere because if we continue business as usual, statistics confirm that many places will be underwater by 2050 because sea levels are going to continue increasing,” Dr. Shetty explained.Rather than storing the gas underground or absorbing it from the atmosphere, the

Reference Link: https://www.ku.ac.ae/turning-co2-into-useful-products-using-gold-nanoparticles-embedded-in-a-novel-material team of researchers is removing it in its entirety to help achieve the zero-carbon goal. The beneficial value-added products from a free source also help create a viable circular economy cycle. Looking ahead, Dr. Shetty plans on developing many materials for the UAE’s priority areas, including blue ammonia production, battery, and hydrogen production. He is also focusing on making the material more efficient and scalable, in order to make it commercially viable

Rare diseases are increasingly coming into the spotlight in the Middle East as local researchers work on mapping out the region’s genomic database. Dr. Ahmad Abou Tayoun, Director of the Genomics Center of Excellence at Al Jalila Children’s, Associate Professor of Genetics at the Mohammed Bin Rashid University of Medicine and Health Sciences, and a Clinical Molecular Geneticist, is leading research through his paper entitled “The Genomic Landscape of Rare Disorders in the Middle East”. Rare diseases affect less than 1 in 200,000 individuals. However, with 6,000 rare diseases in the world, they impact more than 450 million people globally. They are clinically unrecognisable and complex due to their multi-system presentations. They pose a diagnostic odyssey, which entails recurrent hospitalisation of patients within a time period of five to seven years, as well as ineffective treatment or management plans and no working diagnosis. As a result, they have become a significant economic and societal burden. However, 80 percent of such diseases have a genetic aetiology, highlighting the importance of using genomics and genetics early on to attempt finding a diagnosis and place the patient on a diagnostics track. “This is what is known in the west, where diagnostic systems are currently more advanced. In the Middle East, we are aware of the high presence of rare diseases due to the relatively higher rates of marriages between relatives. However, there is hardly any data from the region that has been shared worldwide. Therefore, we do not know the exact burden of rare disorders,” Dr. Abou Tayoun explained. Although he expects the figure to be high, the actual genetic data to quantify the burden is still unknown as most countries in the Middle East lack the required resources or, at times, regulations hinder sharing genetic data beyond borders. A lack of appropriate skillsets, such as trained genetic counsellors and clinical molecular geneticists, as well as facilities to deliver these services to patients, have also become obstacles for the region to being able to truly thrive in the field. However, one of the main strengths of Dr. Abou Tayoun’s paper is found in attempting to solve this issue in the Middle East. His team was able to establish one of the region’s first paediatric genomic centers in the UAE, which contains multidisciplinary teams under the same umbrella. Such a center is key for rare diseases as many of them emerge as multi-system disorders. The center contains a laboratory which is accredited by the College of American Pathologists and this laboratory offers stateof-the-art genetic tests. In addition, there are trained specialists and genetic counsellors, who Dr. Abou Tayoun refers to as the vehicle between the laboratory, the caring physicians and the patients. The study details the team’s experience with over 500 patients, revealing data and different genomic testing technologies which have been explored in the west. “We sequence all 20,000 genes in the human genome for each patient, providing a diagnostic yield of around 40 percent. Thus, 4 out of 10 patients who go through the testing end up with a diagnosis, which is an improvement. Other testing modalities in the past have had around a 1 to 2 percent diagnostic yield,” he explained. The study also shows that 70 percent of the presenting patients were less than five years of age, which entails early intervention and management, consequently helping shorten the diagnostic odyssey. In the past, families from the Middle East commonly travel abroad for genetic testing. Today, Dr. Abou Tayoun’s work is filling that gap. “The genetic world is moving towards finding new therapies based on genetic findings. We lay out a large number of mutations in the paper in over 200 genes, and over a third of them are not found in worldwide disease databases. They are found all over the Middle East providing targets for new therapies, hence, it is vital to disclose such data. There is a huge beneficial impact locally and globally,” he concluded. The project’s next steps include launching major projects as an outcome of such research, one of which focuses on rapid whole genome sequencing in the intensive care unit – the first to offer such a service in the Middle East. Over the next few years, at least 200 families will be enrolled in the project. The team is also working on an initiative of new-born screening for spinal muscular atrophy (SMA). The initiative will include the screening of 6,500 Emirati new-borns over the next four years and will help to develop an understanding of the epidemiology of the disease and its prevalence. It will also provide lifesaving gene therapy.

Dr.

Ahmad Abou Tayoun Director of the Genomics Center of Excellence at Al Jalila Children's Specialty Hospital, Associate Professor of Genetics at the Mohammed Bin Rashid University of Medicine and Health Sciences, and Clinical Molecular Geneticist