A groundbreaking study first conducted by researchers at Weill Cornell Medicine-Qatar (WCM-Q) has been expanded upon by an international team of scientists, leading to a detailed genetic map of human proteins.

The Genome sequence when printed, can fill a huge book of close print. (Image: Wikipedia)
The Genome sequence when printed, can fill a huge book of close print. (Image: Wikipedia)

The work, led by scientists at the University of Cambridge and MSD, characterised the genetic underpinnings of the human plasma ‘proteome’, identifying nearly 2,000 genetic associations with almost 1,500 proteins. Previously, only a small fraction of these associations were known, mainly because researchers could measure only a few blood proteins simultaneously in a robust manner.

The researchers use the technology ‘SOMAscan’ developed by SomaLogic, to measure 3,600 proteins in the blood of 3,300 people. They then analysed the DNA of these individuals to see which regions of their genomes were associated with protein levels, yielding a four-fold increase on the study previously published by WCM-Q. The new study has been published in leading scientific journal Nature. The earlier study was supported by the Biomedical Research Programme (BMRP) of WCM-Q.

Dr Karsten Suhre, professor of physiology and biophysics and director of the Bioinformatics Core at WCM-Q, led the earlier research in Qatar last year, which revealed many previously unknown links between genetic variations and a series of debilitating conditions, including Alzheimer’s disease, heart disease, auto-immune disorders and cancer. Following the publication of these findings, Dr Suhre was asked to participate in the latest study.

The technology that was used in the new research – the SOMAscan – is available to researchers in Qatar, and with Qatar BioBank, we have a resource that is allowing researchers in the country to unlock the secrets of the human genome, specifically the Qatari and Arabian genomes.’

He said that this is a hugely valuable resource that will be used for decades to come, hopefully heralding therapies and treatments for a range of diseases and conditions that are prevalent in the MENA region.

Dr Khaled Machaca, associate dean for research at WCM-Q, said the use of proteomics biomarkers to correlate with disease progression and prognosis is a powerful approach that is likely to become more and more useful in the future.

It is very gratifying to see such approaches being pioneered at WCM-Q, through the efforts of Dr Suhre, as this truly validates the vision of Qatar and Qatar Foundation to establish the country as a hub of knowledge generation rather than just of knowledge transfer.’

For more information about the groundbreaking research of WCM-Q, visit qatar-weill.cornell.edu.