Genetic Diseases

They are diseases, generally passed down from generation to generation, that develop as a result of deficiencies, excesses, or erroneous mutations in the genes (DNA) that encode the structure and functioning of the body.

Chromosomal diseases (e.g., Down Syndrome) are abnormalities in the number or physical structure of the chromosomes in the cell. Single-gene diseases (e.g., Cystic fibrosis, SMA), on the other hand, involve a defect in the code of a specific gene at the microscopic level.

Individuals may carry a rare defective gene without being sick (they are carriers). Because blood relatives have a high probability of carrying the same defective gene, the risk of two defective genes combining in a child to cause a disease (autosomal recessive) increases significantly.

Yes. While many genetic syndromes become apparent at birth, some genetic diseases like Huntington's disease can emerge in adulthood, and familial cancer syndromes (BRCA) can present in later years.

Individuals with a family history of hereditary diseases, recurrent miscarriages, or cancer, those planning an advanced maternal age pregnancy, and couples who are blood relatives are highly recommended to undergo genetic counseling and screening before having children.

Although there is no definitive cure for many of them, palliative treatments are applied to alleviate symptoms. However, today, 'Gene Therapy', which corrects the defective gene, or enzyme replacement therapies are being successfully used for certain diseases like SMA.