New Cure Found for Rare Genetic Disease

Experimental Treatment on 4 Infants Huge Success

(7/1/2013)


The cooperation of different fields of science and medicine has enabled an incredible breakthrough in the understanding and treatment of a newly-discovered genetic disease. The disease, which causes the sudden paralysis of infants’ limbs and vocal cords, had been dubbed ‘the curse’ by people of North African origin, the population affected by the disease. Two researchers from Hadassah Medical Center, Professor Orly El-Peleg of the department of Genetics and Professor DrorMevorachfrom the Center of RhuemotologyResearch and the department of Internal Medicine, have succeeded in identifying the gene responsible for this disease. Additionally, they discovered that medication used to treat another rare genetic disease is effective in halting the progression of paralysis caused by this disease. The experimental treatment of four infants suffering from this condition has saved their lives;some have even started to walk. ‘The curse’ has been lifted!

 

Peripheral neuropathy is a neurological condition. It affects the nerves responsible for the transmission of signals from the spinal cord to the muscles in the limbs. Normal and rapid signal transfer is dependent on the Myelin casingprotecting the nerves. In recent years, Israeli infants less than a year old have been diagnosed with degeneration of the Myelin casing,becoming gradually paralyzed as a result.

 

The common denominator between the infants who had beendiagnosed with this condition was their North African origin. All of infants were healthy until coming down with what seemed to be a simple viral fever. Yet, surprisingly, each of the infants became gradually paralyzed instead of getting better. The attending doctors were under the impression that, for some unknown reason, the defense mechanism meant to attack the virus, attacks the Myelin instead.

 

Once it been established that all the patients were of the same North African origin,one family even having two children diagnosed with the disease, genetic researchers at Hadassahwere able to identify the defective gene. This was donewith the help of new genetic technology called ‘deep sequencing’. They found that the gene responsible for the disease acts as a barrier against the infant’s immune system, which explains how the immune system (awakened by a simple virus) causes the continued attack on the Myelin. Studies have shown that this gene is found at a 1:66 frequency among healthy Jews of North African descent.

 

The next chapter in this saga shows the uniqueness of Hadassah Hospital, which always stresses the importance of cooperation between medicine and research.Three stories above the genetic lab responsible for the discovery of the gene, was the lab Professor DrorMevorach, an internist, who had spent the last decade researching that same barrier against the immune system. Prof. Mevorach confirmed the geneticists’ findings and its importance in the immune system. The findings will be published this month in the prestigious medical journal, Blood.

 

Professor Mevorach, who has been following-up with the infants and the progression of theirillnesses, decided to offer the parents an option for experimental treatment. He chose to try a medication used to treat another rare disease (PNH) and which acts as a synthetic inhibitor for the immune system. The first four infants have already begun treatment with promising results- three of the infants are showing significantsigns of improvement.