Continuing our 28 Days, 28 Rare Diseases campaign, today we focus on Cystic Fibrosis (CF)—a genetic disorder that affects the lungs, digestive system, and other organs. Under the leadership of Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of the few highly qualified medical geneticists in India, our center has diagnosed and managed numerous cases of cystic fibrosis and other inherited diseases.
Cystic Fibrosis is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, leading to the production of thick, sticky mucus that clogs the lungs and obstructs the pancreas. This results in persistent lung infections, digestive issues, and other complications. Early genetic testing and medical intervention can significantly improve outcomes and quality of life.
Understanding Cystic Fibrosis – Our Experience in Clinical Genetics
In our experience, families often seek medical attention when their child experiences chronic respiratory infections, difficulty gaining weight, or persistent digestive issues. Since Cystic Fibrosis is genetically inherited, newborn screening and genetic testing for the CFTR gene play a critical role in early diagnosis and treatment.
Over the past year, our center has supported families affected by Cystic Fibrosis through genetic counselling, advanced diagnostic testing, and personalized treatment plans. While CF is a lifelong condition, modern medical advancements, targeted therapies, and nutritional support have significantly improved survival rates and quality of life.
With early diagnosis, lung therapies, and specialized treatments, individuals with Cystic Fibrosis can manage symptoms effectively and live longer, healthier lives.
Frequently Asked Questions (FAQs) on Cystic Fibrosis
What causes Cystic Fibrosis?
Cystic Fibrosis is caused by mutations in the CFTR gene, which affects the production of a protein that regulates the movement of salt and water in and out of cells. This leads to thick, sticky mucus buildup in the lungs, pancreas, and other organs.
Is Cystic Fibrosis inherited?
Yes. Cystic Fibrosis follows an autosomal recessive inheritance pattern, meaning a child must inherit two copies of the mutated CFTR gene (one from each parent) to develop the condition. Carrier screening can help families assess their genetic risk before planning a pregnancy.
Can Cystic Fibrosis be diagnosed before birth?
Yes. Prenatal genetic testing can detect CF in a developing baby if both parents are carriers. Newborn screening programs also help in early detection, allowing prompt medical intervention.
Can individuals with Cystic Fibrosis live normal lives?
With modern medical advancements, individuals with CF are living longer than ever before. Early treatment, specialized lung therapies, nutritional support, and targeted medications have greatly improved life expectancy and quality of life.
Are genetic diseases like Cystic Fibrosis untreatable?
No. While CF cannot be completely cured, new targeted treatments such as CFTR modulators, airway clearance therapies, and personalized medicine have revolutionized disease management. Medical genetics research continues to explore new therapeutic options, including gene therapy.
Genetic Testing and Counselling for Cystic Fibrosis
As one of the leading clinical geneticists in India, Dr. Roshan Daniel and our team provide comprehensive genetic testing and counselling for families affected by Cystic Fibrosis and other inherited diseases.
If you or your child is experiencing chronic respiratory symptoms, digestive issues, or has a family history of Cystic Fibrosis, genetic consultation can provide clarity and guidance on diagnosis, treatment options, and future family planning.
Our services include:
✔ Genetic testing for CFTR gene mutations
✔ Carrier screening for families planning pregnancy
✔ Newborn genetic screening for early detection
✔ Personalized treatment plans for Cystic Fibrosis
✔ Online genetic consultations for remote patients
Join Us in Spreading Awareness
Cystic Fibrosis is one of many genetic diseases that require greater awareness, early diagnosis, and specialized medical care. As part of our 28 Days, 28 Rare Diseases campaign, we will continue sharing insights into rare genetic disorders, advanced genetic testing, and breakthroughs in medical genetics.
📢 If you or someone you know needs information on genetic testing, genetic counselling, or Cystic Fibrosis management, reach out to our center.
Together, we can ensure that no disease is too rare to care.