Hamad Bin Khalifa University (HBKU) is participating as an academic partner at Sidra Medicine’s fourth annual Functional Genomics 2018 Symposium, being held under the theme of Big Data to Clinic at the Qatar National Convention Centre until tomorrow.
HBKU is represented through the participation of three of its science-focused entities, which are the College of Science and Engineering (CSE), College of Health and Life Sciences (CHLS) and Qatar Biomedical Research Institute (QBRI).
The symposium, which began yesterday, provides a platform for experts to discuss cutting-edge advances in genetics, genomics and “big data” in the field of medicine. The interdisciplinary international community of attendees aims to assess how best to use big genetic and clinical datasets to provide novel insights into the biology of disease. Scientific challenges including implementation, scalable data infrastructures, and developing novel therapeutics, are some of the topics that are being explored.
On Day 1 of the conference, Dr Omar Albagha, principal investigator at QBRI and professor of genetics at CHLS, participated with a cross-disciplinary host of speakers to address various aspects of genome variability and function, with a specific focus on the genetics of disorders affecting children. Dr Albagha’s discussion on Genetic Architecture of Health and Disease-related Traits in the Qatari Population highlighted the contribution of common genetic variations to health and disease traits, as well as the country’s progress towards the utilisation of precision medicine. 
Sara al-Khawaga, who is enrolled in CHLS’ PhD in Biological and Biomedical Sciences programme, also conducted a session to discuss the Incidence, Clinical Spectrum, and Molecular Mechanisms of Permanent Neonatal Diabetes Mellitus in Qatar. 
On Day 2, Dr Edward Stuenkel, dean of CHLS, is co-chairing a session on Exploring the Consequences of Mutation in Model Systems. He will aim to list the advantages of utilising animal models for gene discovery; describe the impact of non-self mutations in human disease; and explain what spatial transcriptomics can reveal about biology.
Kholoud al-Shafai, a PhD student at CHLS, will be co-moderating a Women in Science workshop to demonstrate the achievements of women in the field as they assume top positions. 
Day 3 will also witness the participation of Dr Henning Horn, assistant professor at CHLS, in a session titled The LINC Complex is Essential for Gametogenesis, which will discuss the characterisation of recently discovered mutations that are linked to male infertility. 
Throughout the symposium, CSE will be exhibiting at the HBKU booth and engaging with visitors with the aim of promoting the college’s ongoing work and programmes.
Commenting on CHLS’ participation, Dr Stuenkel said: “Sidra Medicine’s annual symposium provides a crucial platform to evaluate advancements in the field of genomics. We are looking forward to useful contributions at the symposium and to advancing our research in this area, while mutually benefiting from the wealth of expertise that surrounds us.” 
Dr Albagha said, “Many disease-related traits such as blood pressure and blood glucose levels are genetically determined. The Qatar Genome programme is a great resource for investigating the genetic basis of these disease traits. Unravelling the genetic contributions of these traits will also pave the way for precision medicine in Qatar. Our research team (in collaboration with Weill Cornell Medicine-Qatar) is currently investigating genetic contributions to more than 60 disease-related traits. We will provide some insights into this project at the Functional Genomics 2018 Symposium.”
Dr Dena al-Thani, assistant professor at CSE, said: “CSE is pioneering a data analytics in health management degree – a programme that was specifically launched to tie into Qatar’s ambitions for capacity building. By participating at the Functional Genomics Symposium, we aim to showcase CSE’s potential and impact, as well as engage in meaningful discussions with our counterparts.”
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