Shafallah researchers take part in US forum

November 13, 2012 - 6:11:47 am

Researchers from the Shafallah Medical Genetics Center at the meeting.

DOHA: Four researchers from the Shafallah Medical Genetics Center (SMGC) took part in an international human genetics meeting in San Francisco, California, in the United States. They presented findings of their research projects that were produced in Qatar.

The meeting that concluded on Friday was the largest human genetics meeting and exposition in the world. It attracted about 7,000 delegates and more than 200 exhibiting companies. 

American Society of Human Genetics members and leading scientists from around the world were selected to present their research findings or poster sessions, during the five- day event.

In addition, the event showcased 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 reflected on the research activities they performed in the Shafallah Medical Genetics Center 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 reflected on the advances in bioinformatics tools that were adopted by the Shafallah Medical Genetics Center to analyze large sets of genomic data. 

Two posters identify novel mutations in previously described genes and their relation to specific genetic disorders.

The results of the research presented at this meeting will be published in good scientific journals, thus marking the contribution of Qatar to the human genetics literature. The Peninsula