Selected articles from the 2nd International Genomic Medicine Conference (IGMC 2013): Medical Genomics

The second international genomic medicine conference (2^nd IGMC, 2013): brief report and outcome

Authors: Muhammad M Abu-Elmagd and Mohammed H Al-Qahtani

Gene-environment interactions and obesity: recent developments and future directions

Obesity, a major public health concern, is a multifactorial disease caused by both environmental and genetic factors. Although recent genome-wide association studies have identified many loci related to obesit...

Authors: Tao Huang and Frank B Hu

Individualized medicine enabled by genomics in Saudi Arabia

The biomedical research sector in Saudi Arabia has recently received special attention from the government, which is currently supporting research aimed at improving the understanding and treatment of common d...

Authors: Muhammad Abu-Elmagd, Mourad Assidi, Hans-Juergen Schulten, Ashraf Dallol, Peter Natesan Pushparaj, Farid Ahmed, Stephen W Scherer and Mohammed Al-Qahtani

Molecular genetics of human primary microcephaly: an overview

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation. Microcephaly is the outcome of a ...

Authors: Muhammad Faheem, Muhammad Imran Naseer, Mahmood Rasool, Adeel G Chaudhary, Taha A Kumosani, Asad Muhammad Ilyas, Peter Natesan Pushparaj, Farid Ahmed, Hussain A Algahtani, Mohammad H Al-Qahtani and Hasan Saleh Jamal

The role of epigenetics in personalized medicine: challenges and opportunities

Epigenetic alterations are considered to be very influential in both the normal and disease states of an organism. These alterations include methylation, acetylation, phosphorylation, and ubiquitylation of DNA...

Authors: Mahmood Rasool, Arif Malik, Muhammad Imran Naseer, Abdul Manan, Shakeel Ahmed Ansari, Irshad Begum, Mahmood Husain Qazi, Peter Natesan Pushparaj, Adel M Abuzenadah, Mohammed Hussein Al-Qahtani, Mohammad Amjad Kamal and Siew Hua Gan

Evolutionary Diagnosis of non-synonymous variants involved in differential drug response

Many pharmaceutical drugs are known to be ineffective or have negative side effects in a substantial proportion of patients. Genomic advances are revealing that some non-synonymous single nucleotide variants (...

Authors: Nevin Z Gerek, Li Liu, Kristyn Gerold, Pegah Biparva, Eric D Thomas and Sudhir Kumar

Performance of case-control rare copy number variation annotation in classification of autism

A substantial proportion of Autism Spectrum Disorder (ASD) risk resides in de novo germline and rare inherited genetic variation. In particular, rare copy number variation (CNV) contributes to ASD risk in up to 1...

Authors: Worrawat Engchuan, Kiret Dhindsa, Anath C Lionel, Stephen W Scherer, Jonathan H Chan and Daniele Merico

Sprouty2 mediated tuning of signalling is essential for somite myogenesis

Negative regulators of signal transduction cascades play critical roles in controlling different aspects of normal embryonic development. Sprouty2 (Spry2) negatively regulates receptor tyrosine kinases (RTK) and ...

Authors: Muhammad Abu-Elmagd, Katarzyna Goljanek Whysall, Grant Wheeler and Andrea Münsterberg