A study conducted by researchers in Sidra Medicine revealed the genetic causes behind rare diseases that are difficult to treat between various groups of residents of the Middle East.
The leading study in the journal “Nature Gentx”, entitled “Semi -East Middle Eastern Genesus improves self -symmetry analysis and enhances the discovery of pathogens and those of the population of the region.”
The study provides a very important reference for careful medicine and population genetics, as it seeks to fill important gaps in global genomic studies, and also uses the latest techniques of primary installation “De Novo” and a long -reading sequence.
The installation of the primary genome “De Novo” is an advanced computer technique that creates a full reading of the genomic series of scratch instead of relying on the existing genome references, which contain many errors and voids.
By using the technique of long -reading sequence, which reads large parts of DNA without fragmentation, the study conducted by Sidra Medical Researchers provides the first genomic maps of the Middle East distinctly and unprecedented completion across the region, as this approach contributes to determining pathogens, as well as natural genetic variations.
Professor Younis Makrab, head of the genome medical and population laboratory and director of the Neuroscientist Research Program in Sidra Medicine, who led the study, said that the long -reading sequence was used to gain in -depth visions about the genotics of a group of Middle Eastern families with rare diseases, which proves that the preliminary composition “De Novo” could reveal the pathogens of diseases that have been unknown for years.
He pointed out that the study provides a valuable genome reference for the region, and this represents a qualitative shift in the field of careful medicine, and ensures that millions of Middle East residents are not excluded in genomic research anymore.
Genomy reference
The study analyzed the genome in 6 families from Qatar, Sudan, Jordan, Syria and Afghanistan, with various nervous growth disorders whose causes have not been revealed before, as this resulted in one of the most accurate genetic data groups in the region so far.
The high -quality genome groups, which completely differentiate between the mother and the father’s DNA, are an essential resource for improving clinical diagnoses and developing research on rare diseases.
Professor Ivan Ivary, Professor of Genome Science at Washington University in the United States and co -author of the study, said this work is interesting as the study seeks to understand a full set of genetic variables behind the disease, which is important to discover the causative variables and understand the contrast of the patient’s apparent pattern.
For his part, Professor Khaled Fakhro, head of the research department in Sidra Medicine and the co -author of the study, said that Sidra Medicine has been leading leading efforts in the field of genomine research at the level of the region for more than 10 years, and its latest results show that the techniques of long -reading sequence have become an essential tool for genetic discovery and careful medicine.
He pointed out that the ability to identify pathogenic variables – which were previously absent in standard genome references – is a great achievement in clinical genome.
The new genetic serials offered by the study also contribute to understanding the history of human migrations and population composition in the Middle East, providing insightful visions that promote evolutionary and anthropological research.
Dr. Hamdi Mubarak, Director of Research and Partnerships at the Qatar Institute for Define Health Care, said that with the issuance of a new group of Qatar Genome to more than 25 thousand people, the arrival of high -quality genome references is specially designed for people with Middle Eastern origins that comes in time and gains great importance, as this helps in clarifying the genetic contrast of these population and its impact on health and disease.