Prof. Avraham Domb (PR)
Every year, on the last day of February, Rare Disease Day is celebrated around the world. A rare disease is a disease that affects the incidence of one in 2500 people. The number of rare diseases is currently estimated at between 6000-8000 different diseases which together affect about 6-8% of the world population. This figure translates to about 300 million patients worldwide, and about half a million patients in Israel. A significant percentage of rare diseases are genetic diseases of hereditary origin.
Despite the considerable advances in medicine it is still not possible to cure most of the rare diseases, and in practice only about 3% of all rare diseases are offered drug treatment. As research in molecular biology progresses, advances in early diagnosis and medical treatment of rare diseases are expected.
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Israel is a leader in the field of early diagnosis and genetic screening tests are available to a target population in which there is a high incidence of diseases. Pre-implantation genetic diagnosis is a method that enables genetic diagnosis of a pre-embryo in the process of in vitro fertilization, in order to enable the birth of healthy babies in families where there is a high risk of inheriting a serious genetic disease to the baby.
The minority of patients in each of the rare diseases, and rightly so, does not attract investors to develop drugs and treatments for them. As a result, most scientific research is done within the walls of academic research institutions. In 2018, the Ministry of Innovation, Science and Technology established the National Knowledge Center for the Study of Rare Diseases at Ben-Gurion University of the Negev. The goals of the Knowledge Center are to decipher the genetic basis in rare diseases that have not been addressed so far; Develop models for understanding the mechanism of disease; And investigate rare familial cases of hereditary diseases. The national knowledge center has so far registered close to 50 diseases and hundreds of mutations.
Diseases that are discovered in Israel have additional patients around the world and therefore Israeli research is of international importance. Moreover, the methods of treating a rare disease are not unique to a particular disease and can sometimes be applied to other diseases as well. It is necessary to continue to invest resources in preventing the emergence of new cases of patients with rare diseases by mapping the populations in which the prevalence of rare diseases is high and there is outreach activity among these populations.
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Researchers should develop tools for early and accurate diagnosis of diseases at both the genetic and metabolic levels and the development of treatments for rare diseases based on the prevalence of the disease and the ability to treat it and its symptoms. At the same time, international collaborations with the world’s leading countries in this field of research must be maintained. Advances in genetic research and cellular and genetic medicine and an understanding of the source of the diseases will in the not-too-distant future lead to the development of drugs and treatments that will bring relief to these patients and alleviate the burden on families.
Authors: Dr. Avi Raveh and Prof. Avi Domb, Chief Scientist, Ministry of Innovation, Science and Technology
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