The Department of Genetic and Metabolic Diseases
The Department of Genetics and Metabolic Diseases provides comprehensive services for reliable and innovative genetic diagnosis & genetic counseling that provides support for individuals and couples.
We offer services for pregnant women and children who suffer from congenital malformations and growth issues, patients with genetic diseases and their family members as well, persons who marry within their families, persons suffering from cancer in their families, and all concerned parties.
The gene department focuses on all patients, especially children, who have rare and undiagnosed disorders. We identify the mutations which caused their disease using a new gene. Over the years, different techniques have been used, and the “EXOME” technique is currently utilized.
Why it is important that we research the genetic foundations of congenital and hereditary diseases?
First, to develop new drugs, we need to understand the damaged component of the gene that causes the disease. Collecting accurate information about the pathogen, and understanding the gene’s interaction and synthesis, enables researchers to understand why one genetic change in DNA causes a change in amino acids of one of the proteins, changing its shape, function and role. This change may be pathogenic or fatal to the cell and the living organism in general – e.g., Sickle Cell Anemia.
Second, genetic information will enable researchers and doctors to diagnose damaged allele carriers, which affects humans at some point during their lifetime. These carriers can be in the embryo, and genetic testing can determine whether a person can suffer from certain syndromes.
Genetics science is connected with advanced medicine through genetic scans to help predict how the patient responds the drug.
Thanks to the identification of the gene and its function we can treat a section of genetic diseases by detecting the imbalance in the protein; this is called Gene Therapy. In gene therapy, the required gene is inserted into the cells of the patient. Alternatively, the technique of enzymatic pluralism is used, whereby the missing or defective protein in patients is replaced
Metabolic disorders in connective tissue examples:
Hurler Syndrome, or type A Mucosal Polysaccharide Disease, is a degenerative physical chromosomal disorder that causes debility and often poses a life risk. It is a genetic disorder caused by a deficiency in an enzyme called alpha-l-iduronidase. This enzyme breaks down a substance in the body called glycosaminoglycans. The increasing accumulation of these substances in the various organs of the body leads to the damage of them completely. It is therefore important to diagnose and treat it early.
Familial Mediterranean Fever: An idiopathic genetic disorder that usually affects populations in the Mediterranean, especially Armenians, Arabs and Eastern Jews.