The College of Health and Life Sciences (CHLS) at Hamad Bin Khalifa University (HBKU) has delivered a CPD-accredited workshop to train physicians on essential bioinformatic tools to analyse and interpret genetic variation in clinical practice.
The workshop, which took place Saturday, aimed to equip participants to recognise basic bioinformatics tools and their exploitation to analyse genetic variation. Additionally, participants were able to interpret these variations in a clinical context using available databases, resources and software.
The workshop was presented by two eminent experts in genetics and clinical bioinformatics: Dr Borbala Mifsud, assistant professor, Genomics and Precision Medicine, CHLS, HBKU; and Dr Patricia Munroe, professor of Molecular Medicine at William Harvey Research Institute, Queen Mary University of London.


Dr Edward Stuenkel

Presentations by Dr Mifsud and Dr Munroe introduced how genetic variations are linked to diseases and how they can be used in clinical practice. They provided examples for the use of essential bioinformatics tools available for the physician audience to search and analyse genomics data, which could ultimately facilitate the implementation of precision medicine.
Qatar's increasing accessibility to technologies that interrogate genomes, including whole genome sequencing of patients through the Qatar Genome Programme, provides a wealth of data that can guide practicing physicians to diagnose specific diseases and potentially to assess future health risks in Qatar. Bioinformatics, an interdisciplinary field that combines biology, computer science and statistics that analyses and interprets extensive genomic data, is required to translate such data into advice for patients and clinicians.
The workshop was developed under the guidance of the Scientific Planning Committee, chaired by Dr Ayman al-Haj Zen, assistant professor, CHLS; Dr Nady El Hajj, assistant professor, CHLS; Dr Mifsud; Dr Omar Albagha, professor, CHLS; and Dr Sharon Maria Bout-Tabaku, attending physician, Paediatric Rheumatology, Sidra Medicine.
At the conclusion of the workshop, Dr Edward Stuenkel, founding dean of CHLS, said: “Our training initiatives at CHLS serve to bridge the gap between academia and clinical practice by furthering specialised knowledge and the understanding of newer specialised tools. These opportunities for practising physicians in Qatar help improve patient outcomes and advance efforts to implement personalised medicine.”
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