Precision Medicine and Genomics in Paediatric Healthcare was the main theme on the second day of Sidra Medicine's annual Precision Medicine and Functional Genomics (PMFG 2023) Conference.
Conference co-chair Dr Bernice Lo announced that Sidra Medicine continued to showcase its achievements and advancements in precision medicine with the recent award of two Path Towards Precision Medicine grants. The first grant, Improving Diagnostic Yield in Genome-Negative Families with Multi-omics, while the second, Clinical personalised medicine to treat immunodeficiencies, are both collaborative programmes between research and clinical care and aim to enable tailored diagnoses and targeted therapies for patients.
In another precision medicine achievement, Sidra Medicine announced the publication of its BARAKA-Qatar study on the genomic architecture of autism spectrum disorder in Qatar in the prestigious journal, Genome Medicine. The BARAKA-Qatar (Building a Resource for the Advancement of Knowledge of Autism in Qatar) study aims to establish a national resource on ASD research, consisting of a biorepository of samples and data on patients at Sidra Medicine.
Dr Khalid Fakhro, lead author of the study and Chief Research Officer at Sidra Medicine, said: "BARAKA-Qatar is the first study of its kind where we sequenced the whole genomes of over 350 families with autism, with data representing predominately Arab and other different ethnicities. This method allowed us to look for all the possible genetic variants that can contribute to autism and explain the genetic risk of these in these families."
Day 2 also held the highly anticipated panel session on "Precision medicine and functional genomics revolutionise paediatric healthcare".
Sidra Medicine CEO, Dr Iyabo Tinubu-Karch, who opened the panel session, said: "Given the dramatic pace of evolution and innovation in healthcare, our mission is underpinned specifically to transform tackling health from a reactive to a more proactive and personalised stance, where the delivery of leading clinical and translational research of value to the population of Qatar and the world — is the next frontier. To that end, we have seamlessly integrated research into clinical care pathways, enabling our researchers to take a more detailed view of individual patients — ultimately facilitating more responsive and flexible individualised care."
