DOHA SCIENTISTS from across the world shared latest findings on brain development and malformation during a neurogenetics workshop held at Weill Cornell Medical College in Qatar (WCMCQ) recently.

The workshop was attended by experts from Qatar, the United States, Italy and other country from the Gulf region.

The two-day event also focused on strategies to improve diagnosis and treatment of affected individuals.

Addressing the participants, Elizabeth Ross, professor and vice-chair of neurology at Weill Cornell Medical College in the US, said: “Congenital brain malformations affect an estimated two percent of the population worldwide and pose a significant health care challenge for families and communities.

Our goals for this workshop are to create awareness about brain malformations and to improve the precision of diagnosis.

These are necessary steps toward finding betters ways to manage disabilities and seizures that can occur in these conditions.

Dr Ross presented her lecture on current understanding of the major molecular and cellular events of early brain development.

She organised the workshop in collaboration with other experts at Shafallah Medical Genetics Center and Hamad Medical Corporation (HMC).

Director of the Shafallah Medical Genetic Center and co-organiser of the workshop, Dr Hatem el Shanti discussed genetic causes of seizures in children.

“In recent years, several genes related to epilepsy have been identified.

The Middle East is an important area of research in this field because the diversity in the population.

The frequency of consanguineous marriages in the region increases the incidence of congenital or inherited disorders in the population.

This increases the likelihood that gene changes leading to the disorder can be identified.” In his presentation on advances in imaging in relation to the diagnosis of brain malformations, Dr James Barkovich, a professor of radiology at the University of California, San Francisco, said: “Advances in medical imaging have helped in identifying functional areas of the brain.

We have a better idea of what part of the brain is doing what.” According to Dr William Dobyns, a professor of pediatrics at the University of Washington, “A variety of imaging tools and the growing knowledge of genetics are improving our understanding of the underlying causes of brain malformations and helping find new genes related to the disorders.” Another speaker, Dr Renzo Guerrini, professor of child neurology and psychiatry at the University of Florence, discussed genetic causes and presentations of seizures in children.

“Better understanding of the functional areas of the brain has helped to improve treatment for disorders related to brain malformations.

For example, it is now possible to surgically remove certain areas of the brain to treat epilepsy that does not respond well to medication,” Guerrini said.

Other speakers at the workshop included Dr Hussein Kamel, senior consultant in radiology, Dr Mahmoud Fawzi Elsaid and Dr Khalid Ibrahim, senior consultants in pediatric neurology at HMC, Dr Alice Abel Aleem, director of the neurogenetics laboratory at WCMC-Q and Dr Tawfeg Ben Omran, head of clinical and metabolic genetics at HMC.

The conference gave the participants an opportunity to discuss strategies for optimising brain imaging, management of seizures and of other medical issues commonly encountered in patients affected by these disorders.

The participants brought their challenging cases for discussion to advance diagnosis.

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