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Molecular causes of ultra-rare syndromic retinal degeneration, obesity, and diabetes mellitus in consanguineous Palestinian families

Project Summary: 

Alström syndrome is an ultra-rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and type 2 diabetes. It is caused by biallelic mutations in the ALMS1 gene. Symptoms of Alström syndrome vary among individuals, but in general it is a progressive disease with multi-organ pathology, and results in early handicap and death.

Consanguineous marriages are very common in the Palestinian society. The extended family structure, mostly associated with consanguinity, tends to display unique distribution patterns for genetic diseases. Rare autosomal recessive diseases could be paradoxically prevalent in some villages and family clusters where consanguineous marriages ran over several generations.

In this project, we aim to identify disease-causing gene mutation/mutations responsible for prevalent phenotype of Alström syndrome in one of the Palestinian villages near the city of Jenin. This will be followed by screening the entire village population for the identified mutation/mutations. Inheritance patterns and allelic association studies will help determine the age of the identified mutation, and further delineate the expected founder effect.

We hope that our efforts will lead to the identification of carriers for this gene mutation, and will help in performing better-quality genetic counseling before marriage so we prevent or reduce the appearance of more cases of this debilitating illness.