Cystic Fibrosis

Cystic fibrosis is a single gene disorder caused due to amutation in the CFTR gene. It is characterized by the buildup of thick, sticky mucus which can damage vital organs. It is an inheritable disease that can be transferred from parent to children.

Medical Condition

• Respiratory disorders
• Bacterial & Viral infections
• Formation of Scar tissue (Fibrosis)
• Development of cysts in lungs
• Digestive problems (diarrhea, malnutrition & weight loss)
• Blockage of the Vas deferens (tubes that carry the sperm)

Genetic Changes

• CFTR gene provides instructional code to maintain chloride ions in and out of the cell
• Mutation in the CFTR gene disrupts the function of chloride channels, this leads to the development of thick and sticky mucus

Treatment

No specific treatment as it is a genetic disorder with high morbidity.

• Bone Marrow transplantation
• Blood transfusion
• Enzyme replacement therapy
• Gene therapy

Solution

• Genetic screening can identify single gene disorders
• Early prognosis can prevent such diseases
• Remedial & personalized medicine can change the outcome
• Doctors can suggest alternatives for couples planning pregnancy

More information

At Aaranya Biosciences we use Next Generation Sequencing (NGS) to analyze single gene disorders. Our screening test with NGS has an accuracy of 99%.