Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

Journal of Translational Medicine, Apr 2016

The 6th Pan Arab Human Genetics Conference (PAHGC), “Genetics of Multifactorial Disorders” was organized by the Center for Arab Genomic Studies (http://www.cags.org.ae) in Dubai, United Arab Emirates from 21 to 23 January, 2016. The PAHGCs are held biennially to provide a common platform to bring together regional and international geneticists to share their knowledge and to discuss common issues. Over 800 delegates attended the first 2 days of the conference and these came from various medical and scientific backgrounds. They consisted of geneticists, molecular biologists, medical practitioners, postdoctoral researchers, technical staff (e.g., nurses and lab technicians) and medical students from 35 countries around the world. On the 3rd day, a one-day workshop on “Genetic Counseling” was delivered to 26 participants. The conference focused on four major topics, namely, diabetes, genetics of neurodevelopmental disorders, congenital anomalies and cancer genetics. Personalized medicine was a recurrent theme in most of the research presented at the conference, as was the application of novel molecular findings in clinical settings. This report discusses a summary of the presentations from the meeting.

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Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

Nair et al. J Transl Med Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference Pratibha Nair 0 Sami Bizzari 0 Nirmal Rajah 0 Nada Assaf 0 Mahmoud Taleb Al‑Ali 0 Abdul Rezzak Hamzeh 0 0 Background The 6th Pan Arab Human Genetics Conference, “Genet- ics of Multifactorial Disorders” was hosted by Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences ( The 6th Pan Arab Human Genetics Conference (PAHGC), “Genetics of Multifactorial Disorders” was organized by the Center for Arab Genomic Studies (http://www.cags.org.ae) in Dubai, United Arab Emirates from 21 to 23 January, 2016. The PAHGCs are held biennially to provide a common platform to bring together regional and international geneticists to share their knowledge and to discuss common issues. Over 800 delegates attended the first 2 days of the conference and these came from various medical and scientific backgrounds. They consisted of geneticists, molecular biologists, medical practitioners, postdoctoral researchers, technical staff (e.g., nurses and lab technicians) and medical students from 35 countries around the world. On the 3rd day, a one‑ day workshop on “Genetic Counseling” was delivered to 26 participants. The conference focused on four major topics, namely, diabetes, genetics of neurodevelopmental disorders, congenital anomalies and cancer genetics. Personalized medicine was a recurrent theme in most of the research presented at the conference, as was the application of novel molecular findings in clinical settings. This report discusses a summary of the presentations from the meeting. Multifactorial disorders; Diabetes; Congenital anomalies; Neurodevelopmental disorders; Cancer; Genetic counseling - these research papers reached 426 researchers from 35 countries including USA, UK, Germany, Canada, Australia, United Arab Emirates, and Saudi Arabia. These research papers revolved around four main topics: diabetes and other metabolic disorders, genetics of neurodevelopmental disorders, congenital anomalies and cancer genetics. Using modern advances in high throughput sequencing techniques was at the center of many research papers, especially in the context of providing personalized clinical care to patients. In addition, an exhibition was held on the sidelines of the conference, where seven commercial companies showcased the latest technologies and services offered by them for human genomics and proteomics that are readily applicable for personalized medicine. Session 1 In his keynote lecture, Prof. Mark McCarthy from the Oxford Centre for Diabetes provided an overview of how results from GWAS are increasing our mechanistic understanding of Type 2 diabetes mellitus (T2DM) and helping drug discovery achieve better and faster yields [ 1 ]. Of the 100 common variants identified by GWAS to be associated with T2DM, techniques such as functional enrichment and using positional candidates have resulted in the discovery of close to 33 functional candidate genes, which can serve as putative therapeutic targets. The Centre for Arab Genomic Studies (CAGS) showcased its new line of research using the tools of metaanalysis to increase statistical power of studies conducted on Arab populations. “Type I diabetes (T1D) and HLA class II alleles in Arabs” was the focus of the first series of meta-analyses conducted by the Centre. Dr. Abdul Rezzak Hamzeh explained the main findings of these studies and pinpointed the place of Arab data on the global map of ethnic-specific data in the context of T1D [ 2, 3 ]. Dr. Anette Gjesing presented some of the work done at the University of Copenhagen in studying the prevalence of Maturity Onset Diabetes of the Young (MODY) variants in Danish women with a history of gestational diabetes (GDM). This study is similar to an earlier study done by the team on the Czech population [ 4 ]. The study found that 11  % of diabetes among women with a history of GDM could be explained by MODY variants. These women were also found to be three times more likely to develop diabetes 10-years later. Diagnosis of MODY relies majorly on genetic testing, which is expensive. Dr. Hinda Daggag delivered a talk about her work at the Imperial College of London Diabetes Centre, which involves using Urinary C-Peptide Creatinine Ratio (UCPCR) to diagnose MODY [ 5 ]. Her experience with UCPCR testing in the Emirati population seems to suggest that cut-off limits for MODY in this population are lower than the UK limits among pediatric cases and higher among adult cases. The evolutionary origin of obesity has attracted much popular attention in recent years. Dr. Vadim Stepanov presented the results of his work at the Research Institute for Medical Genetics in Tomsk where his group tried to use genome wide association studies to understand whether obesity is a decanalized phenotype. Their results indicate that observed worldwide frequency spectrum in obesity-associated genes may be, at least p (...truncated)


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Pratibha Nair, Sami Bizzari, Nirmal Rajah, Nada Assaf, Mahmoud Al-Ali, Abdul Hamzeh. Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference, Journal of Translational Medicine, 2016, pp. 96, 14, DOI: 10.1186/s12967-016-0854-4