We are accustomed to having blood tests when we go to the hospital, but soon patients at the Hadassah Medical Center will be asked to give DNA samples, too.
Having already identified more than 100 new disease-associated genes, researchers at Hadassah will use these new contributions to enlarge the hospital’s HADASSOME exome database. With 5,000 records, it’s the largest database of genetic variants in Israel.
Head of Bioinformatics Hagar Mor-Shaked, PhD, hurries each morning from her home in Ein Kerem village to her computer screen in the Genomic Sequencing Laboratory at Hadassah Hospital Ein Kerem to solve genetic mysteries that can unlock the causes of diseases. Most of her work involves the art of exome sequencing, reviewing the patient’s approximately 180,000 exons containing the most important DNA.
Her team mainly researches monogenic diseases, those controlled by a single gene, such as cystic fibrosis, Tay-Sachs disease, and Smith-Lemli-Opitz syndrome. While the Hadassah team also identifies rare diseases that have not yet been named.
In October 2019, Hadassah’s 100th paper was published on new disease-associated genes. Its geneticists are about to announce an additional 10 such genes in the coming months.
Contributing to Hadassah’s success is the unique composition of Israel’s gene pool. Many cousins marry each other, and extended families are large, resulting in multiple presentations of syndromes. The combination of traditional families and advanced medicine makes Hadassah ideally positioned to solve genetic mysteries.
Dr. Mor-Shaked sees a deep psychological value in being able to identify a disease. “It’s not enough to sensitively inform a couple that their child is going to be blind, deaf, and autistic,” she explains. “Parents need to know why. Once the disease is discovered and named, some afflicted families create charitable organizations to help other families who are dealing with the same disease.”
Using HADASSOME, geneticists can compare the exomes of a family they are treating now with the exomes of people of a similar ethnic background. If the case under investigation does not match existing records, then doctors know they are dealing with a new variant. That variant is added to the database.
As the HADASSOME cohort grows, Hadassah laboratories will begin examining the genetics of more complex diseases, reactions to drugs, and why some patients can safely undergo general anesthesia while others cannot.
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