Hereditary Research Laboratory – Activities

Activities and RELEVANCE TO health DEVELOPMENT

Of 707 recessive diseases reported in Arabs, 136 have been observed in the Palestinian population. Thus, while specific diseases are important on the regional and local scale, they are rare, “orphan” diseases on the global scale. As a result, precise molecular diagnosis, which is a key to disease prevention, is possible in only ~30% of cases. A regional and community approach is therefore critical to effectively address this problem. Numerous recent reports have outlined the scarcity of comprehensive genetic services for the Arab and Middle Eastern populations, which, as noted above, are particularly vulnerable to severe recessive disease. Creation of such services is particularly important because of their implications for prevention of diseases which pose a considerable human, economical and logistic challenge that can scarcely be met by limited medical resources, such as those available in Palestine and the region.

Critical components of the appropriate genetic service are commonly agreed to be: 1) Education and training of Arab clinical and laboratory genetic specialists in those components of bioinformatics tailored towards the investigation of recessive disorders in highly inbred population. 2) Physician outreach, in order to identify families at risk. 3) Improved genetic/molecular analysis of locally relevant disease, through identification of disease genes and delineation of the local mutational spectrum. 4) Improve genetic counseling practices and 5) – Translation approach towards utilizing genetic information in clinical setting. The HRL specifically has developed the training colloquium that precisely addresses these crucial clinical and molecular capabilities and created the consented approach towards comprehensive genetic services.

The HRL has identified exactly the components of current genomics technology that can be directly transferred, will be of practical application to medical and public health research in Palestine, and that will enable students, physicians, public health workers and researchers to obtain up-to-date training in these disciplines in one hand and to research work in Palestine on the other. Clearly this requires specialized training and sustainable transfer of technology.