It’s All about Our Genes

08Oct10

At Israel’s first ever  Neurogenetic Seminar, Prof. Orly Elpeleg, Director of Hadassah’s Department of Genetic and Metabolic Diseases,  announced her team’s 15th discovery of another gene that causes disabling children’s illnesses and diseases – some of them fatal.

Prof. Elpeleg’s latest research,  revealed the gene that causes Cerebellar‐Cerebral Atrophy in Jews from the Caucasus. The research results will appear in the upcoming issue of The American Journal of Human Genetics.  

Last year, she and her team detected the genetic mutation that causes Joubert Syndrome, a neurological genetic disease found in Ashkenazi Jews. The year before, they investigated the origin – and found the gene mutation – that causes babies of families of Yemenite origin to develop severe liver failure two to six months after birth. “Identifying a defective gene greatly benefits a family with a sick child,” Prof. Elpeleg said. “While the discovery cannot cure the child, it puts an end to the endless battle of searching for the source of the problem. 

“I feel a remarkable sense of peace when we are able to give the parents a diagnosis – even though they realize that their child cannot be cured. Parents can deal with sad news; what they can’t deal with is the enigmatic lack of knowledge. Uncovering the mystery gives the family immediate relief and offers hope for the future. They can take advantage of pre-natal diagnosis and pre-marriage tests for carrier detection, which helps them decide on future offspring and is a great help to the children they already have. They can also join support groups dedicated to their illness and seek medical advice. At least now they can put a name on their child’s condition.” 

Giant leaps in technology are greatly responsible for the dramatic increase in research activity – and groundbreaking research results – in genetics. “The micro‐array chip enables the identification of the molecular basis of neurodegenerative disorders,” Prof. Elpeleg explained. “In the past, it would take weeks to study the entire DNA of a patient; today, this can be done in two or three days. This new technology combined with the ‘natural asset’ of Hadassah’s patient population – people from consanguineous families, many ethnic backgrounds and a history of inbreeding – has resulted in the Hadassah team’s successful research – identifying more genes than any other medical center in the country to date.”

To share their discoveries and discuss what the future holds, Prof. Elpeleg convened the Monique and Jacques Roboh Department of Genetic Research Neurogenetic Seminar at Hadassah in early October – Israel’s first seminar on the subject. Some 250 neurologists, geneticists, pediatricians and other specialists came to Hadassah in early October to learn more about discoveries in disease-causing genes

Dr. Simon Edvardson, a pediatric neurologist and senior member of Prof. Elpeleg’s research group moderated the program. It focused on disorders identified by this technology and transmitted in an autosomal recessive manner, meaning that two copies of the abnormal gene  must be present for the disease or trait to occur.

 “It was a unique opportunity for us to share our cutting-edge achievements with others,” Prof. Elpeleg said, “and help the next generation of professionals learn about discoveries to date. While we try to publish our data as quickly as possible, the information is more vivid and has a greater impact when you explain it to live audience.

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