Advances in Medical Genetics highlight 2nd Qatar Genetics Symposium

"In Qatar, we have made tremendous strides in our understanding of genetic disorders and in our ability to diagnose and treat them. With Hamad Hospital's new Center for Genetics, our progress in these areas will continue,"

said Dr. Ahmed Teebi, professor of pediatrics and genetic medicine at WCMC-Q and a co-organizer of the biennial symposium.

Besides a staff of highly trained geneticists, the center has extensive laboratory and testing facilities that are important for the identification and treatment of genetic disorders.

"The Qatar Genetics Symposium is an important forum for the exchange of ideas and knowledge concerning current genetics research and its application," said Tawfeg Ben Omran, MD, chairman of the Organizing and Scientific Committee for the symposium and assistant professor of clinical pediatrics at WCMC-Q.

Genetic disorders are particularly significant in the Gulf Region and the Middle East because of marriage among close relatives, which is a risk factor for genetic disorders and birth defects.

"This region of the world is largely inhabited by Arabs and Muslims who traditionally favor close-kin marriage. The consanguinity rates range from 20-70 percent in most Middle Eastern countries," said Teebi.

In his presentation, Dr. Teebi discussed the large number of abnormalities that have been observed and reported among people in Middle Eastern countries. He has published numerous papers on his discovery of more than 40 genetic disorders and is involved in research projects focused on their discovery at the genetic level and clinical management.

Zafar Nawaz, PhD, of the Pathology and Laboratory Medicine Department at Hamad Medical Corporation discussed the recent advances in cytogenetics, or the study of the structure and function of the cell and its chromosomes, in detecting genomic anomalies. "Recent improvements in testing have made it possible to improve our diagnostic skills related to genetic disorders," he said.

According to Dr. Sheila Unger from the Institute of Human Genetics, the number of disorders with a known gene has grown exponentially, "As of last count, 372 different skeletal abnormalities were known, with 215 having a connection with 140 different genes."

Progress in genetic deciphering of skeletal disorders has provided valuable information about their physiological mechanisms, she said, but international cooperation is necessary for real progress in fundamental clinical research.

Although consanguinity is associated with higher frequency of genetic disorders and birth defects, it also facilitates the mapping of genes, according to Dr. Hatem El-Shanti, director of the Shafallah Medical Genetics Center in Doha. "The identification of genes after mapping is a step forward for honing the diagnostic tools used for diagnostic testing and carrier identification," he said.

"Over the past two decades, there has been remarkable achievement in the fields of cellular neurobiology and molecular neurogenetics. The determination of the molecular development of neurological disorders is indispensable to the development of therapies for these disorders. It also plays a vital role in genetic counseling and prevention of handicaps,"

said Dr. Mustafa A.M. Salih, professor of pediatric neurology in the college of Medicine at King Saud University in Saudi Arabia.

Despite the fact that expatriates make up about 80% of the current five million inhabitants in the United Arab Emirates, intermarriage among them is rare and consanguineous marriages are still the norm, according to Dr. Lihadh Al-Gazali, professor of pediatrics, United Arab Emirates University in the UAE.

"The UAE currently ranks 6th out of 193 countries in terms of prevalence of birth defects, mainly due to genetic causes," said Al-Gazali, who also discussed the clinical and molecular basis of several disorders identified in the UAE population.

"Rare skeletal disorders provide the opportunity to understand genes and pathways that regulate the development of cartilage and bone," said Muhammad Faiyaz-Ul-Haque, PhD, scientific director of the Molecular Pathology Core Facility at King Faisal Specialist Hospital and Research Center in Saudi Arabia.

"The advances in describing the genetic defect in several conditions has endowed us with insight into the genes controlling normal growth of cartilage and development of bone. It has also open new diagnostic perspectives," he said.