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Qatar researchers are developing advanced screening tools for genetic diseases-Doha News

Qatar and Weill Cornell Medicine scientists have collaborated to build an innovative, low-cost screening tool, QChip 1, to detect genetic disorders.

Researchers at Weill Cornell Medicine (WCM)’s main campus in New York, WCM-Qatar (WCM-Q) and the Qatar Foundation (QF), are working on a large scale for Qatar citizens to carry out low-cost, high-cost, high-cost development. Cooperated to collect various genome databases. A technology screening device that can detect genetic diseases.

according to WCM The screening device labeled “QChip1” in the newsletter is a “microarray that can detect over 80,000 different DNA mutations in genes associated with hereditary diseases in blood samples.”

The QChip1 microarray sells for less than $ 100 and is used to assess the risk of hereditary disease among newborns, couples planning to have a family, and inpatients.

This striking innovation will essentially advance personalized medicine in Qatar.

“The QChip1 screening array represents some important milestones for Qatar,” said Dr. Khalid Fakhro, head of research at study co-author Sidra Medicine.

“First, it represents an important result of Qatar’s early investment in generating genomic knowledge about our population.

Second, this sequence is the first in the region and can be adopted in neighboring countries whose population shares ancestors (and disease mutations) with us.

And finally, it shows the strength of collaboration across Qatar’s biomedical research community. This is because it really took several years of stakeholder effort to create a viable product that would completely transform the screening of future generations of disease. “

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Researchers say that Qatar needs a population-specific screening device because of the Qatar population. [has] Most risk variants of hereditary diseases are in different sets, 85% of which are not found in the Western population. “

“The key message here is that in order to advance precision medicine to a particular population using genetic screening tools, we need to understand the specific set of risk variants found in that population.” , Dr. Ronald Crystal of the Faculty of Genetics, co-author of the study, said. Medicine at Weil Cornell Medical College.

The QChip1 Knowledge Base collaboration also includes the efforts of Sidra Medicine and Hamad Medical Corporation.

CDr. Radja Messai-Badji, lead author of the Qatar Foundation’s Genome Program, said:

Breakdown of research

Many hereditary human diseases result from changes in pathogenic DNA within a single gene. This affects about 1 percent of the total population.

Monogenic disorders (SGD) can be either dominant or recessive. Children are 25% more likely to be affected by this pathogenic manifold, even if both unaffected parents have recessive SGD.

The NPJ Genomic Medicine article further states that “the tribal nature of marriage, in which an individual selects a spouse from a limited gene pool of members of the same tribe, is homozygous for pathogenic founder variants derived from a common ancestor. It contributes to increasing the possibility of sexuality. ”

Homozygosity is best described as a genetic condition in which a person inherits a similar DNA sequence of a particular gene from both parents.

The study also found that “the most pathogenic mutations per genome were observed in the common Arab population.” This means that this study is also relevant to other Middle Eastern societies.

Researchers described QChip1 screening by studying the DNA of 2,707 Qatari people using chips. “Through this large individual sample, we identified a total of 32,674 different risk variants, including an average of 134 risk variants per individual,” WCM said.

Researchers have also found that these pathogenic manifolds are highly cathartic-specific. This means that only about 15% of comparative DNA samples from European Americans, South Asian Americans, African Americans, and Puerto Ricans were detected.

In addition, DNA samples from Kuwait, Iran and the United Arab Emirates “only revealed about half of the Qatar variants detected,” WCM said.

Future outlook for QChip1

Dr. Asmaa AlThani, co-chief author of the Qatar Foundation’s Qatar Genome Program, said: And potentially pathogenic variants. “

Since most of the SGD database was collected from the western population, Qatar began to assemble a more comprehensive screening to collect a database showing Qatar-specific variants. This enables a more personalized and effective drug.

Dr. Asmaa AlThani added that as researchers detect new pathogen variants specific to Qatar, the necessary institutions are striving to advance the medical system at both the regional and broader regional levels.

read more: Qatar’s Genome Research Aims to Advance Precision Medicine Throughout the Region

In their report, WCM states:The QChip1 Knowledge Base and Qatar Genome Browser have been built to give researchers and clinicians access to research data and will continue to grow as more public data and literature from Qatar becomes available. .. “

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