Different segments of
society face unique medical concerns. Genetic diseases are one of the most striking examples of this. The Genetics Institute at Soroka is tackling
these often-life-threatening challenges head-on. Using best practice techniques in carrier testing, clinical and prenatal diagnosis, and genetic
counseling, Soroka is making the Negev a healthier place to live for people from every walk of life, and making discoveries that lead to new
treatments that improve health and prevent human suffering worldwide. It was an honor to speak with him about his groundbreaking discoveries in
Genetics, his remarkable experiences in the field, and his great progress with innovative medical treatments for hereditary diseases.
Asked about his arrival at Soroka Medical Center, Dr. Birk noted: “I came to Soroka Medical Center more than twenty years ago for a
few months, with an already signed contract at a top academic institution in central Israel. However, what I saw at Soroka was life-changing. The
incomprehensible number and severity of different unknown genetic diseases was astounding. As a medical doctor trained in pediatrics and medical
genetics on one hand, and a PhD with expertise in developmental genetics, it was immediately clear to me that this is the place where I could make a
difference; as if I have trained all my life for precisely this setting.”
What do you think, in your educational and research training, prepared you the most for your work in the field? “My training
was excellent for this type of work- combining thorough medical training with extensive research training and expertise. However, there are things
that are the most crucial - that can hardly be taught: listen to your patients, deeply comprehend their culture and adjust your approach so that it
fits their culture and enables earning their trust, and listen carefully to all they know about their disease.
What was the initial reason for your first work with the Sephardic Jewish community? Had work been going on in this area for a period of
years? “While research of genetic diseases in Ashkenazi Jews has been the focus of much of Jewish genetic research, hereditary diseases
in Sephardic Jews were less recognized. I encountered severe diseases in those communities that could not be prevented because the causative
mutations were unknown. It is a joy to make a difference where there is a need rather than crowding existing fields where one is not needed.”
You have been able to discover two rare genetic diseases among the Sephardim. Do you think that you will discover more genetic disease
among the Sephardim? “My work is ongoing, encompassing practically all Jewish cohorts. In fact, we have discovered over the past few
years further diseases prevalent in Moroccan Jews, as well as in Iranian Jews, and have even unraveled some of the first severe hereditary diseases
in Indian Jews and Ethiopian Jews. Enabling prevention of severe diseases in all Jewish communities is extremely fulfilling.”
Do you have a story of special significance for you about the patients of Sephardic genetic heritage that you have treated?
“One of the first Jewish Moroccan families I studied had only two sons - both with a severe neurological disease. Both, ages 9 and 13 at the time,
were already with no eye contact or evident comprehension. Until the age of one year they had been practically fine, but by two years of age they
were already fully disconnected, fed by gastric tube and lost any ability to communicate or move. The parents told me that since the birth of the
older child there was not one minute that one of the parents was not at home. And of course, they avoided having further children as there was no
way of knowing whether the disease will recur. Our discoveries two years later enabled what was seemingly impossible - allowing such couples to give
birth to healthy children.”
What do you hope for in the future in the field of Sephardic genetics studies? “I would like mostly openness - to recognize
that hereditary diseases do exist in any community. And then, to implement effectively prevention programs that will allow eradication of those
diseases and birth of healthy children.” We are very much looking forward to Dr. Ohad Birk’s visit to New York City and we look forward to having
you join us for what will be an exciting and informative evening.
To sign up for the lecture:
https://www.shearithisrael.org/programs/jewish-education-major-lectures
