The most common question Prof. Orly Elpeleg, head of Hadassah’s Center of Excellence for Pediatric Metabolic Diseases, hears is, “What in the world is a metabolic disease?”
Actually, the world of metabolic diseases is a virtually undiscovered one, and Prof. Elpeleg is one of the few pioneers in this field. Metabolic diseases are caused by inborn errors of metabolism, which affect vital organs and frequently threaten a child’s ability to live.


Prof. Elpeleg and her staff work with many different groups of patients to discover the reasons for these debilitating and life-threatening diseases and to create treatment plans and cures for them. In one particular group of children suffering from neurological disorders, the brain matter is literally disappearing at an extremely accelerated pace, as seen in the brain MRI shown on the right. These children were born normal, and then the disease began its progressive devastation. There are two specific families where two of seven children and four of six children are suffering from this same biochemical problem.

Using the DNA sequencer that Hadassah recently purchased thanks to donations, Prof. Elpeleg first needs to locate a specific DNA stretch (or DNA region) that is the same in the sick children and different in the healthy children. Prof. Elpeleg compares this search to looking for one phone number in 200 phone books with 1,000 numbers on each page.

Once this DNA stretch is found, Prof. Elpeleg will work with different departments within Hadassah, such as the Gene Therapy Department or the Hebrew University-Hadassah School of Medicine. Together, they will figure out how to bypass the problem caused by this DNA stretch and thus minimize the effects of the metabolic disorder—and give a child the ability to live a normal life.