News and Events

The Missing Piece of the Puzzle: Dozens of Rare Disorders Diagnosed Using Advanced DNA Sequencing Technology

Publication Date: 4/29/2021 10:30 AM | by: Rambam

Rambam’s Genetic Institute has been using advanced DNA sequencing for the past three years to identify rare genetic disorders, offering hope to many families.

Dr. Karin Weiss, Director of Rambam's Genetic Institute. Photography: Rambam HCCDr. Karin Weiss, Director of Rambam's Genetic Institute. Photography: Rambam HCC

Ten-year-old Danny (not his real name) was born prematurely, and he has been fighting an intense battle to survive from the moment he was born. “When Danny was born, he was unable to breathe independently and we were terrified that he might not live. Later, he was diagnosed with multiple medical problems and birth defects, but we are dealing with all of it,” said his mother. The boy was taken from one hospital to another and examined by dozens of physicians, but until recently, the family had no idea what caused his medical condition – it had no name and remained a mystery.

The missing piece of the puzzle was discovered when Danny was brought to Rambam's Genetic Institute for an evaluation. Dr. Karin Weiss, Director of Rambam's Genetic Institute, is leading an innovative Ministry of Health research program involving DNA sequencing of rare diseases from patients all over Israel. Danny's test results were conclusive: he was suffering from a rare genetic disorder that affected his neurological development. “There is no medication for the syndrome affecting our son,” said Danny's mother. “But knowing the cause helps us in multiple ways, including locating rehabilitation resources and treatments that improve his quality of life.”

During the last three years, Rambam's Genetic Institute has performed sophisticated DNA sequencing on hundreds of Israeli families, with impressive results. “Out of the 175 Rambam patients who underwent genetic testing because of neurological development issues, approximately half were found to have a genetic abnormality,” stated Dr. Weiss. “We are talking about dozens of children who suffered from severe medical issues, without knowing the cause of their illness. In most cases, the diagnosis was unique to the child, and was not inherited from the parents. Without the genetic test, the chances were great that the illness would never have been diagnosed,” explained Dr. Weiss.

Research on the interim results of the study, which is ongoing at Rambam, will soon be presented (virtually) at the annual meeting of the American Society of Human Genetics. According to Dr. Weiss, the high concentration of diagnoses made at Rambam, a leading health care center with many complex patients, has led to important data that is crucial to patients dealing with challenging medical issues: “In 20% of the cases we identified, the diagnosis of a genetic disorder was unanticipated and changed the clinical approach to the patient. In 12% of the cases, the discovery led to new treatment options not previously considered, because the medical teams had lacked knowledge of the condition they were treating. In a significant number of cases, we were able to give these patients hope and the ability to deal more effectively with their condition,” said Dr. Weiss.

The advanced genetic testing program using DNA sequencing has resulted not only in diagnoses for individual patients, but also in the identification of specific genes involved in certain genetic illnesses. “These discoveries have made us able to define new diseases and to characterize their biological processes in a manner previously unknown to us,” explains Dr. Weiss. “In our Genetic Institute alone, we were able to identify 10 genes, which has made it possible for us and geneticists worldwide to make new diagnoses for patients and their families. These are very exciting discoveries.”