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
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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)