In many genetic disorders, there is an intervention for patients. If the patient is missing an amino acid, cofactor or a fatty acid, you can supplement their diet (Homocystinuria and supplementation with pyridoxine). If they have too much of a compound, you can restrict it in their diet (PKU and phenylalanine; Familial hypercholesterolemia and cholesterol). If you know where the defect is in the protein and the pathway, you can design smart treatment strategies (Cystic Fibrosis and the rescue of misfolded CFTR; Duchenne Muscular Dystrophy and aminoglycoside treatment to enhance dystrophin transcription; upregulation of a gene with complementary activity).

Once you know the gene and the mutation, you can think about gene therapy options including inhibitory RNA molecules as well as transfer of functional genes.

Even if there is no intervention, you can provide counselling to the families in terms of family planning.

Mutation detection in population with disease and with out disease will help to understand role of mutation in cause of disease. Identification of gene will useful to understand role of gene in development of disease. You can not ovoid disease but it is possible to predict possibility of disease to take necessary precauasions.

Dear Chandramohan if we came to know about all that mutation from literature from different scientist and research in different countries around the world.Is it good to go for the region where that specific mutation study hasn't been done so far and what would be the benefit of ? like one knows about the mutation and its all, besides the finding of the frequency of that mutation of concerned population or area what are or will be the other benefits of it?

And suppose the patients is suffered from that disease and s/he knows what gonna happen next , mean the upcoming parameters from that diseases/mutations. Then is it beneficial to study it there?

In many genetic disorders, there is an intervention for patients. If the patient is missing an amino acid, cofactor or a fatty acid, you can supplement their diet (Homocystinuria and supplementation with pyridoxine). If they have too much of a compound, you can restrict it in their diet (PKU and phenylalanine; Familial hypercholesterolemia and cholesterol). If you know where the defect is in the protein and the pathway, you can design smart treatment strategies (Cystic Fibrosis and the rescue of misfolded CFTR; Duchenne Muscular Dystrophy and aminoglycoside treatment to enhance dystrophin transcription; upregulation of a gene with complementary activity).

Once you know the gene and the mutation, you can think about gene therapy options including inhibitory RNA molecules as well as transfer of functional genes.

Even if there is no intervention, you can provide counselling to the families in terms of family planning.