Human Genetic Disorders

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The National Institute for Biotechnology
in the Negev Ltd.
Ben-Gurion University of the Negev

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Research Field

Research in the Birk lab seeks to decipher the molecular basis of hereditary diseases in unique local inbred communities. In the local Bedouin community of ~250,000, nearly 60% of marriages are between first and second cousins, and more than 80% marry within tribes. As a result, many recessive diseases emerge. While some are rare disorders, others are prevalent throughout the Arab world. Of special interest are monogenic cases of common disorders, such as celiac, autism, gout, cardiac arrhythmias and diabetes, allowing unique opportunities to identify novel molecular pathways and drug targets for these common diseases.

Unlike many human genetics laboratories, which only conduct bioinformatics and genetics studies, the Birk group also performs research across the entire scope of downstream delineation of mechanisms of the diseases studied. Specifically, their work ranges from biochemical and metabolic studies, to addressing the structural biology of mutant proteins associated with disease, to the generation and study of mutant Drosophila, zebrafish and mouse models of human diseases, to the generation and analysis of patients’ induced pluripotent stem cells.

To date, the Birk team has deciphered the molecular basis of more than 30 human diseases, including some of the most common hereditary diseases in the Arab world and two of the most common severe hereditary diseases in Sephardi Jews, progressive cerebellocerebral atrophy (PCCA) and PCCA2. Based on their findings,massive-scale carrier screening tests are being routinely conducted throughout Israel and in other parts of the world. Research from Birk and his colleagues is being effectively translated into disease-prevention programs that have led to a near 30% reduction in infant mortality in Israeli Bedouins, as well as near eradication of some of the most horrific hereditary diseases in Sephardi Jews, similar to the eradication of Tay Sachs in Askenazi Jews.

In term of biotechnology, the in-depth studies being conducted in the Birk lab on unique monogenic cases of more common diseases, such as ADHD, autism, psoriasis, multiple sclerosis, coeliac disease, gout and atrial fibrillation, have led to the identification of major novel molecular pathways of these common diseases and accordingly, of novel drug targets.

Prof. Ohad Birk, MD, PhD

Prof. Birk looks to decipher the molecular basis of human hereditary diseases by studying monogenic diseases in unique inbred communities, both Arab-Bedouin and Jewish,where inter-marriage results in increased frequency of these recessive diseases. His lab has deciphered the basis of more than 30 human diseases, some of which are prevalent in Arab communities worldwide, and others which are of the most common hereditary diseases in Sephardi Jews. Based on their findings, massive carrier testing is implemented for disease prevention. The Birk team also conducts biochemical and developmental biology studies using Drosophila, zebrafish and mutant mouse models, as well as generating and analyzing patients’ stem cells, to decipher downstream molecular pathways of these diseases.Through such studies, novel drug targets have been identified for common diseases, such as atrial fibrillation, osteoporosis, gout, multiple sclerosis, attention deficit hyperactivity disorder (ADHD), and others.

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