Hadassah

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.)

Comments

No comments yet.
First Name
Email
Comment
Enter this word:

Related Stories

alt_text

Friday, Sep 23 2016

2016 Graduates from 19 Countries Celebrate Hadassah’s IMPH Program

Singing "It's a Wonderful Country" in Hebrew, wearing their native dress, the members of the 41st International Master of Public Health (IMPH) program of the Hadassah-Hebrew University Braun School of Public Health and Community Medicine celebrated their graduation.

READ MORE ›
alt_text

Monday, Sep 19 2016

Hadassah Hospital Treats Terror Victims After Stabbing Attacks

This last week has brought a burst of terror attacks.

READ MORE ›
alt_text

Thursday, Sep 15 2016

“Stunning Results” Continue with Hadassah’s Stem Cell Treatment to Reverse MS

The Hadassah Medical Center is continuing to receive positive findings with its Phase II clinical trial using its unique stem cell approach to stop the progression and reversing the disabilities of multiple sclerosis.

READ MORE ›
alt_text

Thursday, Sep 15 2016

2012 Hadassah Stage-Four Melanoma Patient Thankfully Healthy

"Doctors in Florida who pronounced me ‘soon-dead’ can't believe that I'm healthy today,” said Hadassah melanoma patient Stewart Greenberg.

READ MORE ›

Contact Us

40 Wall Street

New York, NY 10005

support@hadassah.org

More ›

Membership Questions

membership@hadassah.org

(800) 664-5646

Donation Questions

donorservices@hadassah.org

(800) 928-0685

Missions Department

missions@hadassah.org

(800) 237-1517

Show More