Four researchers from the Shafallah Medical Genetics Center (SMGC) have participated in an international human genetics meeting in San Francisco, California, USA to present the findings of their research projects in Qatar. The meeting is the 62nd annual meeting of the American Society of Human Genetics. It was held between November 6-10. It is the largest human genetics meeting and exposition in the world. It attracted about 7,000 scientific attendees and more than 200 exhibiting companies. American Society of Human Genetics members and leading scientists from around the world are selected to present their research findings at invited platform or poster sessions, during a 5 day packed programme. In addition, exhibitors show state-of-the-art medical and laboratory equipment, products, services and computer software designed to enhance human genetics research, teaching and diagnostics. The four researchers presented five posters that reflect on the research activities they had performed at SMGC in Doha. Two posters reported on gene discovery in two rare genetic conditions. One condition is found in one Qatari family and is related to mental retardation and multiple birth defects. The other condition represents a skin disease associated with a kidney defect with abnormal skin and low potassium levels in the blood of patients. A third poster reflects on the advances in bioinformatics tools that were adopted by SMGC to analyse large sets of genomic data. Two posters identify novel mutations in previously described genes and their relation to specific genetic disorders. Hassan Ali bin Ali, the chairman of the Shafallah Center, said: The researchers contribution to and participation at the American Society of Human Genetics meeting demonstrated the SMGC is now a world class genetics center that not only serves and helps the children at Shafallah, but contributes to the advancement of scientific knowledge on a global basis. The staff work very hard and it is encouraging to know that their research produces meaningful and positive outcomes.

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Genetics Center takes part in global meet

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