Identification and characterization of genes associated with human diseases: Unraveling of novel drug targets, developing tools for diagnosis of genetic diseases

Background

Genetic studies of unique inbred consanguineous populations in southern Israel enable unraveling of the molecular basis of hereditary diseases. The laboratory focuses on the identification and characterization of genes associated with human diseases. The research being conducted is of importance to three areas:

1. Medicine: Allowing for molecular diagnosis of hereditary human diseases, enabling carrier detection and prenatal diagnosis.
2. Science: Discovery of the molecular basis for human diseases and of normal molecular developmental pathways.
3. Biotechnology: Discovery of novel drug targets for hereditary disorders, as well as developing diagnostic tools for genetic diseases.

Current research

Studies being performed rely on:

1. Linkage analysis studies of large inbred families, mostly from Bedouin communities of southern Israel
2. Molecular analysis of chromosomal aberrations associated with specific human disorders
3. Microarray analysis of disease vs. normal tissues
4. Functional genomics analysis (in vitro and in vivo) of disease-associated genes uncovered in 1-3 above

Once disease-associated genes are identified, studies of these genes ensue – from biochemical and structural analysis of the encoded proteins, to cellular studies of mutated cells and to the generation and analysis of animal models of the diseases. We have thus far identified the molecular basis of 15 human diseases, including myopia, short stature, a variant of seborrheic dermatitis and psoriasis and other rare and common diseases, including 6 severe neurodegenrative diseases in the Bedouin and the Jewish population. The findings are of both scientific and medical interest and are immediately implemented in massive carrier testing and prenatal diagnosis.