Q.How has the sequencing of human genome opened new windows for treatment of various genetic disorders. Discuss amongst your classmates.
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Start your 14-day free trial to unlock the full solution →The sequencing of the human genome has transformed medicine by allowing doctors to pinpoint the exact genetic cause of a disorder, design targeted therapies, and predict disease risk long before symptoms appear.
The Human Genome Project, completed in 2003, gave us the complete map of all 3 billion base pairs in human DNA. Before this, treating genetic disorders was like trying to fix a car engine without knowing which part was broken — doctors could see the symptoms but not the root cause. Now, with the entire genetic code laid out, we can identify the specific gene or mutation responsible for a condition. This shift from symptom-based to gene-based medicine is the single biggest change in modern healthcare.
Consider a disorder like cystic fibrosis. Before the genome was sequenced, treatment focused on managing lung infections and digestive problems. Today, we know that a mutation in the CFTR gene causes the disease. This knowledge led to drugs like ivacaftor, which directly target the faulty protein produced by that gene. Instead of just treating symptoms, the medicine fixes the underlying molecular defect. That is a direct result of knowing the exact gene sequence.
The genome also opened the door to pharmacogenomics — the study of how your genes affect your response to drugs. A medicine that works perfectly for one person might cause severe side effects in another, simply because of a tiny difference in their DNA. For example, the drug warfarin (a blood thinner) requires different doses depending on variations in two specific genes. With genome sequencing, doctors can now prescribe the right dose from day one, avoiding dangerous trial-and-error. This is personalised medicine in action.
The NCERT textbook highlights that the Human Genome Project has also helped in the diagnosis of genetic disorders before birth through prenatal genetic testing. This allows families to make informed decisions early.
Another major advance is in cancer treatment. Many cancers are caused by mutations in genes like BRCA1 (linked to breast cancer) or EGFR (linked to lung cancer). Sequencing a tumour’s genome can reveal which mutation is driving its growth. Drugs like trastuzumab (Herceptin) are designed to block the protein produced by the mutated HER2 gene in certain breast cancers. Without the genome sequence, we would never have known that these cancers are actually different diseases at the molecular level, requiring different treatments. …
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