Deep Sequencing Analysis Leads to Major Genetic Discoveries at Hadassah

Friday, Jan 24 2014

Using a deep sequencing analyzer, Prof. Orly Elpeleg, Director of the Hadassah Medical Organization’s Department of Genetic and Metabolic Diseases, and her colleagues have determined the sequence of millions of DNA fragments simultaneously--8,000 times the capacity of the former generation of DNA sequencing machines. This has enabled Hadassah’s researchers to identify important gene mutations that cause severe metabolic diseases and to counteract their devastating effects.

In the last three years alone, Prof. Elpeleg and her team have identified 30 genes responsible for some of the most disabling--and sometimes deadly--children’s diseases, making Hadassah one of the top ten centers in the world to identify disease-causing gene mutations. For example, using deep sequence analysis, Hadassah researchers discovered a protein gene responsible for a rare form of infant paralysis affecting Jews who originally came from North Africa. When both parents pass the gene on to their child, the infant suffers muscle paralysis after an illness involving a fever. Prof. Dror Mevorach, Director of Hadassah’s Center for Research in Rheumatology and head of Internal Medicine Department B, has worked on this same protein for the past 15 years. He proposed treating these infants with a synthetic experimental drug that has proven effective in fighting a similar rare disease. The first four babies discovered to have the paralysis have been given this drug, yielding very good results.

The defective gene, carried by 1 in 66 people of North African origin, causes a defect in the protein that acts as a “brake” in the immune system to prevent endless firing against the illness. Instead, the defective gene allows the awakened immune reaction to continue, compromising the baby’s myelin (the coating of the nerves), which affects the transmission of signals from the spinal cord to the muscles of the limbs. (For further information, see the January 2013 issue of Blood.)


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